Details for: SMC1A

Gene ID: 8243

Symbol: SMC1A

Ensembl ID: ENSG00000072501

Description: structural maintenance of chromosomes 1A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 184.8016
    Cell Significance Index: -28.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 142.3258
    Cell Significance Index: -36.1000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.1390
    Cell Significance Index: -47.7500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 93.0814
    Cell Significance Index: -37.8200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 86.1222
    Cell Significance Index: -44.3000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 39.9479
    Cell Significance Index: -38.1400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.3872
    Cell Significance Index: -41.1700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.9881
    Cell Significance Index: -42.8300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.8108
    Cell Significance Index: -42.6600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.6790
    Cell Significance Index: -32.8000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.8035
    Cell Significance Index: 210.1800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.5419
    Cell Significance Index: 41.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.3849
    Cell Significance Index: 150.6400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3134
    Cell Significance Index: 17.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2452
    Cell Significance Index: 202.5300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2326
    Cell Significance Index: 244.6200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.0745
    Cell Significance Index: 126.7200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.0509
    Cell Significance Index: 58.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.9745
    Cell Significance Index: 62.8700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8766
    Cell Significance Index: 107.7900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8545
    Cell Significance Index: 117.3500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8140
    Cell Significance Index: 146.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7826
    Cell Significance Index: 427.4100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5757
    Cell Significance Index: 15.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5145
    Cell Significance Index: 14.8300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5076
    Cell Significance Index: 351.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4795
    Cell Significance Index: 211.9800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4787
    Cell Significance Index: 96.0200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4671
    Cell Significance Index: 16.2300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4357
    Cell Significance Index: 9.4400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4301
    Cell Significance Index: 388.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4284
    Cell Significance Index: 42.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4214
    Cell Significance Index: 26.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4085
    Cell Significance Index: 21.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3847
    Cell Significance Index: 10.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3556
    Cell Significance Index: 16.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3229
    Cell Significance Index: 115.8100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2630
    Cell Significance Index: 33.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2285
    Cell Significance Index: 11.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2215
    Cell Significance Index: 15.3200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2173
    Cell Significance Index: 9.8500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2060
    Cell Significance Index: 14.5700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1723
    Cell Significance Index: 13.2200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1329
    Cell Significance Index: 15.2300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0950
    Cell Significance Index: 18.0800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0870
    Cell Significance Index: 4.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0645
    Cell Significance Index: 11.0200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0480
    Cell Significance Index: 2.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0228
    Cell Significance Index: 43.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0143
    Cell Significance Index: 26.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0132
    Cell Significance Index: 20.2800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0060
    Cell Significance Index: 0.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0026
    Cell Significance Index: 0.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0023
    Cell Significance Index: 1.7000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0083
    Cell Significance Index: -5.2900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0123
    Cell Significance Index: -7.6900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0134
    Cell Significance Index: -9.9300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0145
    Cell Significance Index: -19.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0169
    Cell Significance Index: -12.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0177
    Cell Significance Index: -8.0500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0225
    Cell Significance Index: -2.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0444
    Cell Significance Index: -25.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0629
    Cell Significance Index: -3.3000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0706
    Cell Significance Index: -7.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0924
    Cell Significance Index: -6.8900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1030
    Cell Significance Index: -21.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1385
    Cell Significance Index: -3.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1399
    Cell Significance Index: -20.3300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1545
    Cell Significance Index: -44.4600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1874
    Cell Significance Index: -4.3300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2142
    Cell Significance Index: -24.4500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3010
    Cell Significance Index: -6.3000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3366
    Cell Significance Index: -10.7800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3663
    Cell Significance Index: -6.7700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3730
    Cell Significance Index: -38.8400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3794
    Cell Significance Index: -25.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4108
    Cell Significance Index: -7.0400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4181
    Cell Significance Index: -10.6800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4263
    Cell Significance Index: -9.0800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4339
    Cell Significance Index: -9.2800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4454
    Cell Significance Index: -5.3100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4595
    Cell Significance Index: -20.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4718
    Cell Significance Index: -37.3700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5324
    Cell Significance Index: -10.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5501
    Cell Significance Index: -13.7500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5862
    Cell Significance Index: -9.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5868
    Cell Significance Index: -22.2200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.6119
    Cell Significance Index: -4.9900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.6329
    Cell Significance Index: -6.8800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.6709
    Cell Significance Index: -14.6900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6857
    Cell Significance Index: -18.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6973
    Cell Significance Index: -19.9900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.7140
    Cell Significance Index: -20.9700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.7313
    Cell Significance Index: -9.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7558
    Cell Significance Index: -46.3400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.9169
    Cell Significance Index: -21.9900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.9274
    Cell Significance Index: -8.5400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.0185
    Cell Significance Index: -37.3900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.0186
    Cell Significance Index: -35.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0253
    Cell Significance Index: -30.2000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Cohesin Complex**: SMC1A is a key component of the cohesin complex, which is a protein complex that binds to DNA and holds sister chromatids together during cell division. 2. **Sister Chromatid Cohesion**: SMC1A is essential for the formation and maintenance of sister chromatid cohesion, preventing premature separation of sister chromatids and ensuring accurate chromosome segregation. 3. **Cell Cycle Regulation**: SMC1A is involved in regulating the cell cycle, particularly during mitosis, where it ensures proper chromosome segregation and cytokinesis. 4. **DNA Damage Response**: SMC1A plays a role in the response to DNA damage, where it helps to maintain genome stability and prevent errors in chromosome segregation. **Pathways and Functions** 1. **Cell Cycle Regulation**: SMC1A is involved in regulating the cell cycle, particularly during mitosis, where it ensures proper chromosome segregation and cytokinesis. 2. **Cohesin Complex Formation**: SMC1A is a key component of the cohesin complex, which is essential for maintaining sister chromatid cohesion. 3. **DNA Damage Response**: SMC1A plays a role in the response to DNA damage, where it helps to maintain genome stability and prevent errors in chromosome segregation. 4. **Meiosis**: SMC1A is involved in meiotic cell cycle regulation, where it ensures proper chromosome segregation and recombination. 5. **Sumoylation**: SMC1A is a target of sumoylation, a post-translational modification that regulates protein activity and stability. **Clinical Significance** 1. **Cancer**: Mutations in the SMC1A gene have been implicated in various cancers, including breast cancer, ovarian cancer, and leukemia, highlighting its importance in cancer development and progression. 2. **Genetic Disorders**: SMC1A mutations have been associated with genetic disorders, such as 3-M syndrome, which is characterized by intellectual disability and cancer predisposition. 3. **Reproductive Disorders**: SMC1A is involved in meiotic cell cycle regulation, and mutations in this gene have been implicated in reproductive disorders, such as infertility and miscarriage. 4. **Neurological Disorders**: SMC1A has been implicated in neurological disorders, such as autism and schizophrenia, highlighting its potential role in brain development and function. In conclusion, the SMC1A gene is a crucial component of the cohesin complex, which plays a vital role in maintaining genome stability and proper chromosome segregation during cell division. Mutations in this gene have been implicated in various cancers, genetic disorders, reproductive disorders, and neurological disorders, highlighting its clinical significance and importance in human health.

Genular Protein ID: 2624851290

Symbol: SMC1A_HUMAN

Name: Structural maintenance of chromosomes protein 1A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7757074

Title: The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PubMed ID: 7757074

DOI: 10.1093/hmg/4.2.243

PubMed ID: 8724849

Title: Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 8724849

DOI: 10.1093/dnares/3.1.17

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11877377

Title: SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.

PubMed ID: 11877377

DOI: 10.1101/gad.970702

PubMed ID: 9295362

Title: HEC binds to the seventh regulatory subunit of the 26 S proteasome and modulates the proteolysis of mitotic cyclins.

PubMed ID: 9295362

DOI: 10.1074/jbc.272.38.24081

PubMed ID: 10409732

Title: Hec1p, an evolutionarily conserved coiled-coil protein, modulates chromosome segregation through interaction with SMC proteins.

PubMed ID: 10409732

DOI: 10.1128/mcb.19.8.5417

PubMed ID: 11076961

Title: Characterization of vertebrate cohesin complexes and their regulation in prophase.

PubMed ID: 11076961

DOI: 10.1083/jcb.151.4.749

PubMed ID: 12199140

Title: Localization of human SMC1 protein at kinetochores.

PubMed ID: 12199140

DOI: 10.1023/a:1016563523208

PubMed ID: 14657349

Title: MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation.

PubMed ID: 14657349

DOI: 10.1073/pnas.2536810100

PubMed ID: 15837422

Title: Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates.

PubMed ID: 15837422

DOI: 10.1016/j.molcel.2005.03.017

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22977523

Title: Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit.

PubMed ID: 22977523

DOI: 10.3892/etm.2011.232

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22628566

Title: In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader complex.

PubMed ID: 22628566

DOI: 10.1073/pnas.1206840109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28166369

Title: Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

PubMed ID: 28166369

DOI: 10.1111/epi.13669

PubMed ID: 31452512

Title: Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance.

PubMed ID: 31452512

DOI: 10.7554/elife.47362

PubMed ID: 32409525

Title: Cryo-EM structure of the human cohesin-NIPBL-DNA complex.

PubMed ID: 32409525

DOI: 10.1126/science.abb0981

PubMed ID: 16604071

Title: X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PubMed ID: 16604071

DOI: 10.1038/ng1779

PubMed ID: 17273969

Title: Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation.

PubMed ID: 17273969

DOI: 10.1086/511888

PubMed ID: 17221863

Title: Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PubMed ID: 17221863

DOI: 10.1002/humu.9478

PubMed ID: 18996922

Title: Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

PubMed ID: 18996922

DOI: 10.1093/hmg/ddn369

PubMed ID: 19701948

Title: SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

PubMed ID: 19701948

DOI: 10.1002/humu.21095

PubMed ID: 20358602

Title: Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

PubMed ID: 20358602

DOI: 10.1002/ajmg.a.33348

PubMed ID: 20635401

Title: Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PubMed ID: 20635401

DOI: 10.1002/ajmg.a.33486

PubMed ID: 24124034

Title: Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

PubMed ID: 24124034

DOI: 10.1002/ajmg.a.36252

PubMed ID: 31334757

Title: Cohesin complex-associated holoprosencephaly.

PubMed ID: 31334757

DOI: 10.1093/brain/awz210

Sequence Information:

  • Length: 1233
  • Mass: 143233
  • Checksum: E0A44CA7476C88A6
  • Sequence:
  • MGFLKLIEIE NFKSYKGRQI IGPFQRFTAI IGPNGSGKSN LMDAISFVLG EKTSNLRVKT 
    LRDLIHGAPV GKPAANRAFV SMVYSEEGAE DRTFARVIVG GSSEYKINNK VVQLHEYSEE 
    LEKLGILIKA RNFLVFQGAV ESIAMKNPKE RTALFEEISR SGELAQEYDK RKKEMVKAEE 
    DTQFNYHRKK NIAAERKEAK QEKEEADRYQ RLKDEVVRAQ VQLQLFKLYH NEVEIEKLNK 
    ELASKNKEIE KDKKRMDKVE DELKEKKKEL GKMMREQQQI EKEIKEKDSE LNQKRPQYIK 
    AKENTSHKIK KLEAAKKSLQ NAQKHYKKRK GDMDELEKEM LSVEKARQEF EERMEEESQS 
    QGRDLTLEEN QVKKYHRLKE EASKRAATLA QELEKFNRDQ KADQDRLDLE ERKKVETEAK 
    IKQKLREIEE NQKRIEKLEE YITTSKQSLE EQKKLEGELT EEVEMAKRRI DEINKELNQV 
    MEQLGDARID RQESSRQQRK AEIMESIKRL YPGSVYGRLI DLCQPTQKKY QIAVTKVLGK 
    NMDAIIVDSE KTGRDCIQYI KEQRGEPETF LPLDYLEVKP TDEKLRELKG AKLVIDVIRY 
    EPPHIKKALQ YACGNALVCD NVEDARRIAF GGHQRHKTVA LDGTLFQKSG VISGGASDLK 
    AKARRWDEKA VDKLKEKKER LTEELKEQMK AKRKEAELRQ VQSQAHGLQM RLKYSQSDLE 
    QTKTRHLALN LQEKSKLESE LANFGPRIND IKRIIQSRER EMKDLKEKMN QVEDEVFEEF 
    CREIGVRNIR EFEEEKVKRQ NEIAKKRLEF ENQKTRLGIQ LDFEKNQLKE DQDKVHMWEQ 
    TVKKDENEIE KLKKEEQRHM KIIDETMAQL QDLKNQHLAK KSEVNDKNHE MEEIRKKLGG 
    ANKEMTHLQK EVTAIETKLE QKRSDRHNLL QACKMQDIKL PLSKGTMDDI SQEEGSSQGE 
    DSVSGSQRIS SIYAREALIE IDYGDLCEDL KDAQAEEEIK QEMNTLQQKL NEQQSVLQRI 
    AAPNMKAMEK LESVRDKFQE TSDEFEAARK RAKKAKQAFE QIKKERFDRF NACFESVATN 
    IDEIYKALSR NSSAQAFLGP ENPEEPYLDG INYNCVAPGK RFRPMDNLSG GEKTVAALAL 
    LFAIHSYKPA PFFVLDEIDA ALDNTNIGKV ANYIKEQSTC NFQAIVISLK EEFYTKAESL 
    IGVYPEQGDC VISKVLTFDL TKYPDANPNP NEQ

Genular Protein ID: 1087930864

Symbol: G8JLG1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 1211
  • Mass: 140859
  • Checksum: 9E837EFEA36AD4D2
  • Sequence:
  • MLEVSIPTPH RYVRGKSNLM DAISFVLGEK TSNLRVKTLR DLIHGAPVGK PAANRAFVSM 
    VYSEEGAEDR TFARVIVGGS SEYKINNKVV QLHEYSEELE KLGILIKARN FLVFQGAVES 
    IAMKNPKERT ALFEEISRSG ELAQEYDKRK KEMVKAEEDT QFNYHRKKNI AAERKEAKQE 
    KEEADRYQRL KDEVVRAQVQ LQLFKLYHNE VEIEKLNKEL ASKNKEIEKD KKRMDKVEDE 
    LKEKKKELGK MMREQQQIEK EIKEKDSELN QKRPQYIKAK ENTSHKIKKL EAAKKSLQNA 
    QKHYKKRKGD MDELEKEMLS VEKARQEFEE RMEEESQSQG RDLTLEENQV KKYHRLKEEA 
    SKRAATLAQE LEKFNRDQKA DQDRLDLEER KKVETEAKIK QKLREIEENQ KRIEKLEEYI 
    TTSKQSLEEQ KKLEGELTEE VEMAKRRIDE INKELNQVME QLGDARIDRQ ESSRQQRKAE 
    IMESIKRLYP GSVYGRLIDL CQPTQKKYQI AVTKVLGKNM DAIIVDSEKT GRDCIQYIKE 
    QRGEPETFLP LDYLEVKPTD EKLRELKGAK LVIDVIRYEP PHIKKALQYA CGNALVCDNV 
    EDARRIAFGG HQRHKTVALD GTLFQKSGVI SGGASDLKAK ARRWDEKAVD KLKEKKERLT 
    EELKEQMKAK RKEAELRQVQ SQAHGLQMRL KYSQSDLEQT KTRHLALNLQ EKSKLESELA 
    NFGPRINDIK RIIQSREREM KDLKEKMNQV EDEVFEEFCR EIGVRNIREF EEEKVKRQNE 
    IAKKRLEFEN QKTRLGIQLD FEKNQLKEDQ DKVHMWEQTV KKDENEIEKL KKEEQRHMKI 
    IDETMAQLQD LKNQHLAKKS EVNDKNHEME EIRKKLGGAN KEMTHLQKEV TAIETKLEQK 
    RSDRHNLLQA CKMQDIKLPL SKGTMDDISQ EEGSSQGEDS VSGSQRISSI YAREALIEID 
    YGDLCEDLKD AQAEEEIKQE MNTLQQKLNE QQSVLQRIAA PNMKAMEKLE SVRDKFQETS 
    DEFEAARKRA KKAKQAFEQI KKERFDRFNA CFESVATNID EIYKALSRNS SAQAFLGPEN 
    PEEPYLDGIN YNCVAPGKRF RPMDNLSGGE KTVAALALLF AIHSYKPAPF FVLDEIDAAL 
    DNTNIGKVAN YIKEQSTCNF QAIVISLKEE FYTKAESLIG VYPEQGDCVI SKVLTFDLTK 
    YPDANPNPNE Q

Genular Protein ID: 1008249157

Symbol: Q68EN4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 417
  • Mass: 48888
  • Checksum: EA7302053D16FD4A
  • Sequence:
  • MGFLKLIEIE NFKSYKGRQI IGPFQRFTAI IGPNGSGKSN LMDAISFVLG EKTSNLRVKT 
    LRDLIHGAPV GKPAANRAFV SMVYSEEGAE DRTFARVIVG GSSEYKINNK VVQLHEYSEE 
    LEKLGILIKA RNFLVFQGAV ESIAMKNPKE RTALFEEISR SGELAQEYDK RKKEMVKAEE 
    DTQFNYHRKK NIAAERKEAK QEKEEADRYQ RLKDEVVRAQ VQLQLFKLYH NEVEIEKLNK 
    ELASKNKEIE KDKKRMDKVE DELKEKKKEL GKMMREQQQI EKEIKEKDSE LNQKRPQYIK 
    AKENTSHKIK KLEAAKKSLQ NAQKHYKKRK GDMDELEKEM LSVEKARQEF EERMEEESQS 
    QGRDLTLEEN QVKKYHRLKE EASKRAATLA QELEKFNRDQ KADQDRLDLE ERKKKKK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.