Details for: AP2M1

Gene ID: 1173

Symbol: AP2M1

Ensembl ID: ENSG00000161203

Description: adaptor related protein complex 2 subunit mu 1

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: 324.1501
    Cell Significance Index: -50.4200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 243.3732
    Cell Significance Index: -61.7300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 180.4477
    Cell Significance Index: -74.3400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 176.6861
    Cell Significance Index: -71.7800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 173.9167
    Cell Significance Index: -82.1100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 155.7004
    Cell Significance Index: -80.0900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 123.0958
    Cell Significance Index: -82.6000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 75.3501
    Cell Significance Index: -71.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 60.5780
    Cell Significance Index: -74.6900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 23.0705
    Cell Significance Index: -70.8600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 21.4430
    Cell Significance Index: -84.6200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 18.3100
    Cell Significance Index: -49.0500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 5.6257
    Cell Significance Index: 47.2600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.8783
    Cell Significance Index: 256.1300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.7381
    Cell Significance Index: 164.3800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.6692
    Cell Significance Index: 366.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.1617
    Cell Significance Index: 265.8000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.0426
    Cell Significance Index: 53.7100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.9826
    Cell Significance Index: 127.9100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.9007
    Cell Significance Index: 66.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.8842
    Cell Significance Index: 339.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.8218
    Cell Significance Index: 84.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.6638
    Cell Significance Index: 908.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.5824
    Cell Significance Index: 202.8500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.5138
    Cell Significance Index: 26.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.4417
    Cell Significance Index: 107.4500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.4242
    Cell Significance Index: 16.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.4038
    Cell Significance Index: 38.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3677
    Cell Significance Index: 274.3500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.3580
    Cell Significance Index: 175.4400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.3145
    Cell Significance Index: 10.5000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.3124
    Cell Significance Index: 61.6800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.1404
    Cell Significance Index: 23.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.0812
    Cell Significance Index: 28.8700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0677
    Cell Significance Index: 472.0500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.0566
    Cell Significance Index: 31.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.0440
    Cell Significance Index: 123.1200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9862
    Cell Significance Index: 51.2300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5438
    Cell Significance Index: 53.7900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5156
    Cell Significance Index: 11.1700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4822
    Cell Significance Index: 4.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4476
    Cell Significance Index: 160.5400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4295
    Cell Significance Index: 27.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4271
    Cell Significance Index: 81.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4206
    Cell Significance Index: 29.7500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2243
    Cell Significance Index: 4.1500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1824
    Cell Significance Index: 36.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1734
    Cell Significance Index: 5.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1713
    Cell Significance Index: 29.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1105
    Cell Significance Index: 1.8500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0325
    Cell Significance Index: 23.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0305
    Cell Significance Index: 23.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0041
    Cell Significance Index: 7.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0114
    Cell Significance Index: -8.4200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0225
    Cell Significance Index: -1.1400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0240
    Cell Significance Index: -0.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0355
    Cell Significance Index: -5.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0401
    Cell Significance Index: -73.8700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0414
    Cell Significance Index: -63.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0423
    Cell Significance Index: -4.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0598
    Cell Significance Index: -37.3500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0613
    Cell Significance Index: -83.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0696
    Cell Significance Index: -44.2300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0946
    Cell Significance Index: -65.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1063
    Cell Significance Index: -59.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1090
    Cell Significance Index: -6.7000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1179
    Cell Significance Index: -2.0200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1210
    Cell Significance Index: -3.0900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1215
    Cell Significance Index: -55.1400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1562
    Cell Significance Index: -7.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1780
    Cell Significance Index: -37.4900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1809
    Cell Significance Index: -4.8500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1924
    Cell Significance Index: -7.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2214
    Cell Significance Index: -7.0900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2362
    Cell Significance Index: -8.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2413
    Cell Significance Index: -69.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3044
    Cell Significance Index: -20.4700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3760
    Cell Significance Index: -43.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3912
    Cell Significance Index: -56.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4021
    Cell Significance Index: -46.0700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4082
    Cell Significance Index: -11.7000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4923
    Cell Significance Index: -13.1700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.6013
    Cell Significance Index: -68.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.6294
    Cell Significance Index: -48.3000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6468
    Cell Significance Index: -51.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7779
    Cell Significance Index: -81.0000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.7875
    Cell Significance Index: -10.0900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.8609
    Cell Significance Index: -12.9000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.9318
    Cell Significance Index: -10.1300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.9848
    Cell Significance Index: -55.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.0181
    Cell Significance Index: -53.0300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.0276
    Cell Significance Index: -14.0200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.0332
    Cell Significance Index: -29.4900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.1314
    Cell Significance Index: -26.1400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -1.1541
    Cell Significance Index: -79.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1767
    Cell Significance Index: -72.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.1797
    Cell Significance Index: -29.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.1843
    Cell Significance Index: -25.2200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.4887
    Cell Significance Index: -43.8500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.5077
    Cell Significance Index: -66.6900

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:** AP2M1 is a 95-kDa protein that belongs to the AP-2 family of adaptor proteins. It is composed of three subunits: mu, alpha, and gamma. AP2M1 is highly expressed in various tissues, including immune cells, neurons, and epithelial cells. Its molecular weight and subunit composition enable it to interact with multiple partners, regulating a wide range of cellular processes. **Pathways and Functions:** AP2M1 is involved in several key pathways, including: 1. **Adaptive Immune System:** AP2M1 mediates the internalization of receptors and ligands, regulating immune cell function and signaling pathways. It interacts with CD4, CD8, and CD28 receptors, modulating T-cell activation and proliferation. 2. **Endocytosis:** AP2M1 regulates clathrin-mediated endocytosis, cargo recognition, and vesicle trafficking. It interacts with clathrin, facilitating the internalization of receptors and ligands. 3. **Neurotransmission:** AP2M1 is involved in the regulation of synaptic vesicle endocytosis, neurotransmitter receptor internalization, and postsynaptic signal transmission. It interacts with AMPA receptors, regulating synaptic plasticity and neuronal function. 4. **Viral Infections:** AP2M1 interacts with HIV-1 proteins, modulating viral entry, replication, and disease pathogenesis. **Clinical Significance:** AP2M1's involvement in immune-related disorders and diseases highlights its potential as a therapeutic target. Dysregulation of AP2M1 has been implicated in various conditions, including: 1. **Autoimmune Diseases:** AP2M1's role in regulating immune cell function and signaling pathways makes it a potential target for autoimmune diseases, such as rheumatoid arthritis and lupus. 2. **Cancer:** AP2M1's involvement in endocytosis and vesicle trafficking may contribute to cancer progression and metastasis. 3. **Neurological Disorders:** AP2M1's role in neurotransmission and synaptic plasticity may be implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, AP2M1 is a multifunctional protein that plays a crucial role in various cellular processes, including adaptive immune response, endocytosis, and neurotransmission. Its dysregulation has been implicated in various diseases, highlighting its potential as a therapeutic target. Further research is needed to elucidate the complex mechanisms of AP2M1 and its role in human disease.

Genular Protein ID: 4071974767

Symbol: AP2M1_HUMAN

Name: AP-2 mu chain

UniProtKB Accession Codes:

Q96CW1 A6NE12 D3DNT1 P20172 P53679

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEBI 3 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 33 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 17 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7788527

Title: Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7788527

DOI: 10.1093/dnares/2.1.37

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 10910768

Title: RLIP76, an effector of the GTPase Ral, interacts with the AP2 complex: involvement of the Ral pathway in receptor endocytosis.

PubMed ID: 10910768

DOI: 10.1242/jcs.113.16.2837

PubMed ID: 12032142

Title: Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery.

PubMed ID: 12032142

DOI: 10.1074/jbc.m200522200

PubMed ID: 11877457

Title: Phosphorylation of the AP2 mu subunit by AAK1 mediates high affinity binding to membrane protein sorting signals.

PubMed ID: 11877457

DOI: 10.1083/jcb.200111068

PubMed ID: 14745134

Title: Adaptor protein complexes as the key regulators of protein sorting in the post-Golgi network.

PubMed ID: 14745134

DOI: 10.1247/csf.28.419

PubMed ID: 12952941

Title: Clathrin-mediated endocytosis in AP-2-depleted cells.

PubMed ID: 12952941

DOI: 10.1083/jcb.200305145

PubMed ID: 12694563

Title: Endocytosis of the viral chemokine receptor US28 does not require beta-arrestins but is dependent on the clathrin-mediated pathway.

PubMed ID: 12694563

DOI: 10.1034/j.1600-0854.2003.00079.x

PubMed ID: 15473838

Title: Adaptors for clathrin coats: structure and function.

PubMed ID: 15473838

DOI: 10.1146/annurev.cellbio.20.010403.104543

PubMed ID: 14985334

Title: Analysis of clathrin-mediated endocytosis of epidermal growth factor receptor by RNA interference.

PubMed ID: 14985334

DOI: 10.1074/jbc.c400046200

PubMed ID: 16581796

Title: Clathrin adaptor AP2 regulates thrombin receptor constitutive internalization and endothelial cell resensitization.

PubMed ID: 16581796

DOI: 10.1128/mcb.26.8.3231-3242.2006

PubMed ID: 17643423

Title: MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation.

PubMed ID: 17643423

DOI: 10.1016/j.yexcr.2007.06.015

PubMed ID: 19033387

Title: The adaptor complex AP-2 regulates post-endocytic trafficking through the non-clathrin Arf6-dependent endocytic pathway.

PubMed ID: 19033387

DOI: 10.1242/jcs.033522

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19419997

Title: The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway.

PubMed ID: 19419997

DOI: 10.1152/ajpcell.00630.2008

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23676497

Title: Endocytosis of synaptic ADAM10 in neuronal plasticity and Alzheimer's disease.

PubMed ID: 23676497

DOI: 10.1172/jci65401

PubMed ID: 23529131

Title: Oestrogen promotes KCNQ1 potassium channel endocytosis and postendocytic trafficking in colonic epithelium.

PubMed ID: 23529131

DOI: 10.1113/jphysiol.2013.251678

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: 25066864

Title: Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B.

PubMed ID: 25066864

DOI: 10.1016/j.mcn.2014.07.006

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33436498

Title: Cytoplasmic short linear motifs in ACE2 and integrin beta3 link SARS-CoV-2 host cell receptors to mediators of endocytosis and autophagy.

PubMed ID: 33436498

DOI: 10.1126/scisignal.abf1117

PubMed ID: 11583591

Title: Study of the interaction of the medium chain mu 2 subunit of the clathrin-associated adapter protein complex 2 with cytotoxic T-lymphocyte antigen 4 and CD28.

PubMed ID: 11583591

DOI: 10.1042/0264-6021:3590427

PubMed ID: 31104773

Title: A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

PubMed ID: 31104773

DOI: 10.1016/j.ajhg.2019.04.001

Sequence Information:

  • Length: 435
  • Mass: 49655
  • Checksum: 82803219BA279954
  • Sequence:
    • MIGGLFIYNH KGEVLISRVY RDDIGRNAVD AFRVNVIHAR QQVRSPVTNI ARTSFFHVKR 
SNIWLAAVTK QNVNAAMVFE FLYKMCDVMA AYFGKISEEN IKNNFVLIYE LLDEILDFGY 
PQNSETGALK TFITQQGIKS QHQTKEEQSQ ITSQVTGQIG WRREGIKYRR NELFLDVLES 
VNLLMSPQGQ VLSAHVSGRV VMKSYLSGMP ECKFGMNDKI VIEKQGKGTA DETSKSGKQS 
IAIDDCTFHQ CVRLSKFDSE RSISFIPPDG EFELMRYRTT KDIILPFRVI PLVREVGRTK 
LEVKVVIKSN FKPSLLAQKI EVRIPTPLNT SGVQVICMKG KAKYKASENA IVWKIKRMAG 
MKESQISAEI ELLPTNDKKK WARPPISMNF EVPFAPSGLK VRYLKVFEPK LNYSDHDVIK 
WVRYIGRSGI YETRC

Genular Protein ID: 2330299134

Symbol: E9PFW3_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PFW3

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 5 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 2 GeneTree 1 HGNC 1 IntAct 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 1 PRINTS 1 PROSITE 4 PeptideAtlas 2 Pfam 1 PhylomeDB 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

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: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 460
  • Mass: 52304
  • Checksum: B693E3B0195DAC5F
  • Sequence:
    • MIGGLFIYNH KGEVLISRVY RDDIGSRQAA DSAVFSSSGP FPGEWLEANR RNAVDAFRVN 
VIHARQQVRS PVTNIARTSF FHVKRSNIWL AAVTKQNVNA AMVFEFLYKM CDVMAAYFGK 
ISEENIKNNF VLIYELLDEI LDFGYPQNSE TGALKTFITQ QGIKSQHQTK EEQSQITSQV 
TGQIGWRREG IKYRRNELFL DVLESVNLLM SPQGQVLSAH VSGRVVMKSY LSGMPECKFG 
MNDKIVIEKQ GKGTADETSK SGKQSIAIDD CTFHQCVRLS KFDSERSISF IPPDGEFELM 
RYRTTKDIIL PFRVIPLVRE VGRTKLEVKV VIKSNFKPSL LAQKIEVRIP TPLNTSGVQV 
ICMKGKAKYK ASENAIVWKI KRMAGMKESQ ISAEIELLPT NDKKKWARPP ISMNFEVPFA 
PSGLKVRYLK VFEPKLNYSD HDVIKWVRYI GRSGIYETRC

Genular Protein ID: 2003025599

Symbol: B4DNB9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DNB9

Database IDs:

ARBA 12 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 5 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 2 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 1 PRINTS 1 PROSITE 4 PeptideAtlas 1 Pfam 1 RefSeq 1 SUPFAM 2

Sequence Information:

  • Length: 460
  • Mass: 52338
  • Checksum: 06D349B013FD0192
  • Sequence:
    • MIGGLFIYNH KGEVLISRVY RDDIGSRQAA DSAVFSSSGP FPGEWLEANR RNAVDAFRVN 
VIHARQQVRS PVTNIARTSF FHVKRSNIWL AAVTKQNVNA AMVFEFLYKM CDVMAAYFGK 
ISEENIKNNF VLIYELLDEI LDFGYPQNSE TGALKTFITQ QGIKSQHQTK EEQSQITSQV 
TGQIGWRREG IKYRRNELFL DVLESVNLLM SPQGQVLSAH VSGRVVMKSY LSGMPECKFG 
MNDKIVIEKQ GKGTADETSK SGKQSIAIDD CTFHQCVRLS KFDSERSISF IPPDGEFELM 
RYRTTKDIIF PFRVIPLVRE VGRTKLEVKV VIKSNFKPSL LAQKIEVRIP TPLNTSGVQV 
ICMKGKAKYK ASENAIVWKI KRMAGMKESQ ISAEIELLPT NDKKKWARPP ISMNFEVPFA 
PSGLKVRYLK VFEPKLNYSD HDVIKWVRYI GRSGIYETRC

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.