Details for: EYA1

Gene ID: 2138

Symbol: EYA1

Ensembl ID: ENSG00000104313

Description: EYA transcriptional coactivator and phosphatase 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: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.8880
    Cell Significance Index: -11.3500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 5.3822
    Cell Significance Index: 115.0500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 4.5284
    Cell Significance Index: 200.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 4.2412
    Cell Significance Index: 160.6100
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 3.2660
    Cell Significance Index: 45.6700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 2.5433
    Cell Significance Index: 88.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.7617
    Cell Significance Index: 631.9000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.4448
    Cell Significance Index: 110.8700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.2353
    Cell Significance Index: 75.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.1633
    Cell Significance Index: 27.9000
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.1021
    Cell Significance Index: 11.4800
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 1.0293
    Cell Significance Index: 10.3000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9236
    Cell Significance Index: 51.8300
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.7678
    Cell Significance Index: 7.9200
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.6721
    Cell Significance Index: 7.4100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.5616
    Cell Significance Index: 9.7100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2824
    Cell Significance Index: 5.2200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1885
    Cell Significance Index: 2.9900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1400
    Cell Significance Index: 2.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1065
    Cell Significance Index: 67.6700
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.0995
    Cell Significance Index: 1.2900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0970
    Cell Significance Index: 19.4600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0425
    Cell Significance Index: 1.9800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0269
    Cell Significance Index: 18.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0236
    Cell Significance Index: 44.4200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0184
    Cell Significance Index: 25.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0167
    Cell Significance Index: 7.6000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0028
    Cell Significance Index: 5.2300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0009
    Cell Significance Index: 1.4300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0090
    Cell Significance Index: -1.1600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0099
    Cell Significance Index: -0.2400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0125
    Cell Significance Index: -0.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0169
    Cell Significance Index: -12.3600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0181
    Cell Significance Index: -2.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0181
    Cell Significance Index: -13.7000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0184
    Cell Significance Index: -13.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0213
    Cell Significance Index: -11.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0226
    Cell Significance Index: -14.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0237
    Cell Significance Index: -4.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0260
    Cell Significance Index: -14.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0353
    Cell Significance Index: -10.1600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0390
    Cell Significance Index: -7.0300
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0529
    Cell Significance Index: -0.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0645
    Cell Significance Index: -13.6000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0778
    Cell Significance Index: -13.2800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0850
    Cell Significance Index: -10.4500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0867
    Cell Significance Index: -11.9100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0927
    Cell Significance Index: -11.9700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0976
    Cell Significance Index: -10.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1045
    Cell Significance Index: -12.1800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1080
    Cell Significance Index: -3.1800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1089
    Cell Significance Index: -7.3200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1184
    Cell Significance Index: -2.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1215
    Cell Significance Index: -12.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1239
    Cell Significance Index: -14.1900
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.1320
    Cell Significance Index: -0.7200
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.1433
    Cell Significance Index: -1.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1580
    Cell Significance Index: -12.5100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1593
    Cell Significance Index: -8.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1607
    Cell Significance Index: -11.9800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1729
    Cell Significance Index: -1.8800
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1903
    Cell Significance Index: -2.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2017
    Cell Significance Index: -12.7100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2075
    Cell Significance Index: -12.7200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2098
    Cell Significance Index: -10.9300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.2152
    Cell Significance Index: -2.7100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2249
    Cell Significance Index: -3.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2309
    Cell Significance Index: -10.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2339
    Cell Significance Index: -12.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2573
    Cell Significance Index: -7.1900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2621
    Cell Significance Index: -7.4800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.2766
    Cell Significance Index: -5.4500
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.2781
    Cell Significance Index: -2.3000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2786
    Cell Significance Index: -9.7600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2994
    Cell Significance Index: -6.0100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3064
    Cell Significance Index: -10.0300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3165
    Cell Significance Index: -10.0800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3221
    Cell Significance Index: -6.9600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3259
    Cell Significance Index: -14.1700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3286
    Cell Significance Index: -17.0700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3397
    Cell Significance Index: -12.4700
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.3490
    Cell Significance Index: -6.9600
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.3517
    Cell Significance Index: -4.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3694
    Cell Significance Index: -12.9800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3747
    Cell Significance Index: -7.8200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3827
    Cell Significance Index: -10.2200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.3841
    Cell Significance Index: -12.1500
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.3944
    Cell Significance Index: -5.9000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4054
    Cell Significance Index: -11.6200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4067
    Cell Significance Index: -6.9700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4084
    Cell Significance Index: -6.8400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4132
    Cell Significance Index: -4.8200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.4213
    Cell Significance Index: -6.4100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4233
    Cell Significance Index: -8.9900
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.4243
    Cell Significance Index: -5.0000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4264
    Cell Significance Index: -10.9600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4354
    Cell Significance Index: -10.8600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4391
    Cell Significance Index: -8.5700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4443
    Cell Significance Index: -12.8000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.4602
    Cell Significance Index: -7.1200

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. **Transcriptional Coactivator and Phosphatase**: EYA1 is a multifunctional protein that acts as both a transcriptional coactivator and phosphatase, influencing gene expression and chromatin structure. 2. **Histone Phosphatase Activity**: EYA1's histone phosphatase activity is essential for chromatin remodeling and DNA repair, particularly in response to DNA double-strand breaks. 3. **Cellular Expression**: EYA1 is highly expressed in embryonic tissues, including the nervous system, kidneys, and auditory system, suggesting its role in developmental processes. 4. **Signaling Pathway Involvement**: EYA1 is involved in multiple signaling pathways, including those regulating cell proliferation, differentiation, and survival, highlighting its importance in tissue homeostasis. **Pathways and Functions** EYA1's functions can be broadly categorized into the following pathways: 1. **Developmental Biology**: EYA1 plays a crucial role in embryonic development, including the formation of the ureteric bud, kidney development, and auditory system morphogenesis. 2. **Chromatin Remodeling**: EYA1's histone phosphatase activity regulates chromatin structure and accessibility, influencing gene expression and cellular differentiation. 3. **DNA Repair**: EYA1's phosphatase activity is essential for DNA repair, particularly in response to DNA double-strand breaks. 4. **Cell Proliferation and Differentiation**: EYA1's involvement in signaling pathways regulating cell proliferation and differentiation highlights its importance in tissue homeostasis. **Clinical Significance** EYA1's dysregulation has been implicated in various human diseases, including: 1. **Ear and Hearing Loss**: Mutations in EYA1 have been associated with autosomal recessive hearing loss, highlighting its critical role in auditory system development. 2. **Kidney Disease**: EYA1's involvement in kidney development and function suggests its potential role in kidney disease, including polycystic kidney disease. 3. **Cancer**: EYA1's dysregulation has been implicated in various cancers, including renal cell carcinoma and medulloblastoma. In conclusion, EYA1 is a multifunctional protein that plays a critical role in developmental and cellular processes. Its dysregulation has significant implications for human disease, highlighting the importance of further research into its functions and clinical significance.

Genular Protein ID: 4026442723

Symbol: EYA1_HUMAN

Name: Eyes absent homolog 1

UniProtKB Accession Codes:

Q99502 A6NHQ0 G5E9R4 Q0P516 Q8WX80

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 16 ChiTaRS 1 DEPOD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 3 EMBL 8 Ensembl 6 ExpressionAtlas 1 GO 39 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 8 Rhea 9 SFLD 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9361030

Title: Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

PubMed ID: 9361030

DOI: 10.1093/hmg/6.13.2247

PubMed ID: 9020840

Title: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

PubMed ID: 9020840

DOI: 10.1038/ng0297-157

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 9359046

Title: BOR and BO syndromes are allelic defects of EYA1.

PubMed ID: 9359046

PubMed ID: 11409867

Title: Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

PubMed ID: 11409867

DOI: 10.1007/s004390100495

PubMed ID: 12500905

Title: Six and Eya expression during human somitogenesis and MyoD gene family activation.

PubMed ID: 12500905

DOI: 10.1023/a:1020990825644

PubMed ID: 16441263

Title: Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.

PubMed ID: 16441263

DOI: 10.1111/j.1529-8817.2005.00204.x

PubMed ID: 16691597

Title: Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.

PubMed ID: 16691597

DOI: 10.1002/ajmg.a.31285

PubMed ID: 19234442

Title: Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions.

PubMed ID: 19234442

DOI: 10.1038/nature07849

PubMed ID: 10464653

Title: Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

PubMed ID: 10464653

DOI: 10.1089/gte.1997.1.243

PubMed ID: 10655545

Title: Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

PubMed ID: 10655545

DOI: 10.1093/hmg/9.3.363

PubMed ID: 10991693

Title: Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

PubMed ID: 10991693

DOI: 10.1136/jmg.37.8.623

PubMed ID: 11558900

Title: Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

PubMed ID: 11558900

DOI: 10.1007/s100380170033

PubMed ID: 12701758

Title: Mutation of the EYA1 gene in patients with branchio-oto syndrome.

PubMed ID: 12701758

DOI: 10.1080/0036554021000028103

PubMed ID: 21280147

Title: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

PubMed ID: 21280147

DOI: 10.1002/humu.21402

PubMed ID: 23508780

Title: Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

PubMed ID: 23508780

DOI: 10.1007/s00439-013-1289-0

Sequence Information:

  • Length: 592
  • Mass: 64593
  • Checksum: D62365F81EB692E2
  • Sequence:
    • MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS 
LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT PSSQTMAAYG QTQFTTGMQQ 
ATAYATYPQP GQPYGISSYG ALWAGIKTEG GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY 
SYQMQGSSFT TSSGIYTGNN SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM 
TSSNTSPTTP STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD 
GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR DPPTSVSLGL 
RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS TYNFGTDGFP AAATSANLCL 
ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN NVGGLLGPAK REAWLQLRAE IEALTDSWLT 
LALKALSLIH SRTNCVNILV TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER 
IIQRFGRKVV YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL

Genular Protein ID: 3216703852

Symbol: A0A2R8Y6K4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8Y6K4

Database IDs:

ARBA 12 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PIRSR 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 Rhea 3 RuleBase 1 SAM 1 SFLD 2 SMR 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: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

Sequence Information:

  • Length: 621
  • Mass: 67560
  • Checksum: 5D32BE804806BB19
  • Sequence:
    • MEDPRGINGQ SVQTSQASSD VAVSSSCRSM EMQDLTSPHS RLSGSSESPS GPKLGNSHIN 
SNSMTPNGTE VKTEPMSSSE TASTTADGSL NNFSGSAIGS SSFSPRPTHQ FSPPQIYPSN 
RPYPHILPTP SSQTMAAYGQ TQFTTGMQQA TAYATYPQPG QPYGISSYGA LWAGIKTEGG 
LSQSQSPGQT GFLSYGTSFS TPQPGQAPYS YQMQGSSFTT SSGIYTGNNS LTNSSGFNSS 
QQDYPSYPSF GQGQYAQYYN SSPYPAHYMT SSNTSPTTPS TNATYQLQEP PSGITSQAVT 
DPTAEYSTIH SPSTPIKDSD SDRLRRGSDG KSRGRGRRNN NPSPPPDSDL ERVFIWDLDE 
TIIVFHSLLT GSYANRYGRD PPTSVSLGLR MEEMIFNLAD THLFFNDLEE CDQVHIDDVS 
SDDNGQDLST YNFGTDGFPA AATSANLCLA TGVRGGVDWM RKLAFRYRRV KEIYNTYKNN 
VGGLLGPAKR EAWLQLRAEI EALTDSWLTL ALKALSLIHS RTNCVNILVT TTQLIPALAK 
VLLYGLGIVF PIENIYSATK IGKESCFERI IQRFGRKVVY VVIGDGVEEE QGAKKHAMPF 
WRISSHSDLM ALHHALELEY L

Genular Protein ID: 2894622270

Symbol: Q0P517_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q0P517

Database IDs:

ARBA 12 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 1 InterPro 4 NCBI Taxonomy 1 NCBIfam 1 PANTHER 2 PIRSR 2 PeptideAtlas 1 Pfam 1 RefSeq 1 Rhea 3 RuleBase 1 SAM 1 SFLD 2 SMR 1

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: 519
  • Mass: 57264
  • Checksum: 795C6502337C9A1D
  • Sequence:
    • MFPSNAWAFY FLSFLTNSRP YPHILPTPSS QTMAAYGQTQ FTTGMQQATA YATYPQPGQP 
YGISSYGALW AGIKTEGGLS QSQSPGQTGF LSYGTSFSTP QPGQAPYSYQ MQGSSFTTSS 
GIYTGNNSLT NSSGFNSSQQ DYPSYPSFGQ GQYAQYYNSS PYPAHYMTSS NTSPTTPSTN 
ATYQLQEPPS GITSQAVTDP TAEYSTIHSP STPIKDSDSD RLRRGSDGKS RGRGRRNNNP 
SPPPDSDLER VFIWDLDETI IVFHSLLTGS YANRYGRDPP TSVSLGLRME EMIFNLADTH 
LFFNDLEECD QVHIDDVSSD DNGQDLSTYN FGTDGFPAAA TSANLCLATG VRGGVDWMRK 
LAFRYRRVKE IYNTYKNNVG GLLGPAKREA WLQLRAEIEA LTDSWLTLAL KALSLIHSRT 
NCVNILVTTT QLIPALAKVL LYGLGIVFPI ENIYSATKIG KESCFERIIQ RFGRKVVYVV 
IGDGVEEEQG AKKHAMPFWR ISSHSDLMAL HHALELEYL

Genular Protein ID: 1321608476

Symbol: F8WB53_HUMAN

Name: N/A

UniProtKB Accession Codes:

F8WB53

Database IDs:

ARBA 12 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 PANTHER 2 PIRSR 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 2 Rhea 3 RuleBase 1 SAM 1 SFLD 2 SMR 1 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: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

Sequence Information:

  • Length: 591
  • Mass: 64451
  • Checksum: 73E3CFFD6B7F61A7
  • Sequence:
    • MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS 
LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS KPYPHILPTP SSQTMAAYGQ TQFTTGMQQA 
TAYATYPQPG QPYGISSYGA LWAGIKTEGG LSQSQSPGQT GFLSYGTSFS TPQPGQAPYS 
YQMQGSSFTT SSGIYTGNNS LTNSSGFNSS QQDYPSYPSF GQGQYAQYYN SSPYPAHYMT 
SSNTSPTTPS TNATYQLQEP PSGITSQAVT DPTAEYSTIH SPSTPIKDSD SDRLRRGSDG 
KSRGRGRRNN NPSPPPDSDL ERVFIWDLDE TIIVFHSLLT GSYANRYGRD PPTSVSLGLR 
MEEMIFNLAD THLFFNDLEE CDQVHIDDVS SDDNGQDLST YNFGTDGFPA AATSANLCLA 
TGVRGGVDWM RKLAFRYRRV KEIYNTYKNN VGGLLGPAKR EAWLQLRAEI EALTDSWLTL 
ALKALSLIHS RTNCVNILVT TTQLIPALAK VLLYGLGIVF PIENIYSATK IGKESCFERI 
IQRFGRKVVY VVIGDGVEEE QGAKKHAMPF WRISSHSDLM ALHHALELEY L

Genular Protein ID: 2464484309

Symbol: B3KXR1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KXR1

Database IDs:

ARBA 12 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 8 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 PANTHER 2 PIRSR 2 PeptideAtlas 1 Pfam 1 RefSeq 4 Rhea 3 RuleBase 1 SAM 1 SFLD 2

Sequence Information:

  • Length: 470
  • Mass: 51780
  • Checksum: 80C07CA7BEF517ED
  • Sequence:
    • MQQATAYATY PQPGQPYGIS SYGIKTEGGL SQSQSPGQTG FLSYGTSFST PQPGQAPYSY 
QMQGSSFTTS SGIYTGNNSL TNSSGFNSSQ QDYPSYPSFG QGQYAQYYNS SPYPAHYMTS 
SNTSPTTPST NATYQLQEPP SGITSQAVTD PTAEYSTIHS PSTPIKDSDS DRLRRGSDGK 
SRGRGRRSNN PSPPPDSDLE RVFIWDLDET IIVFHSLLTG SYANRYGRDP PTSVSLGLRM 
EEMIFNLADT HLFFNDLEEC DQVHIDDVSS DDNGQDLSTY NFGTDGFPAA ATSANLCLAT 
GVRGGVDWMR KLAFRYRRVK EIYNTYKNNV GGLLGPAKRE AWLQLRAEIE ALTDSWLTLA 
LKALSLIHSR TNCVNILVTT TQLIPALAKV LLYGLGIVFP IENIYSATKI GKESCFERII 
QRFGRKVVYV VIGDGVEEEQ GAKKHAMPFW RISSHSDLMA LHHALELEYL

Genular Protein ID: 3820382028

Symbol: A6NCB9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A6NCB9

Database IDs:

ARBA 12 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 2 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 NCBIfam 1 PANTHER 2 PIRSR 2 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 Rhea 3 RuleBase 1 SAM 1 SFLD 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: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

Sequence Information:

  • Length: 586
  • Mass: 63953
  • Checksum: 5713563439B5B0D5
  • Sequence:
    • MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS ETASTTADGS 
LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS KPYPHILPTP SSQTMAAYGQ TQFTTGMQQA 
TAYATYPQPG QPYGISSYGI KTEGGLSQSQ SPGQTGFLSY GTSFSTPQPG QAPYSYQMQG 
SSFTTSSGIY TGNNSLTNSS GFNSSQQDYP SYPSFGQGQY AQYYNSSPYP AHYMTSSNTS 
PTTPSTNATY QLQEPPSGIT SQAVTDPTAE YSTIHSPSTP IKDSDSDRLR RGSDGKSRGR 
GRRNNNPSPP PDSDLERVFI WDLDETIIVF HSLLTGSYAN RYGRDPPTSV SLGLRMEEMI 
FNLADTHLFF NDLEECDQVH IDDVSSDDNG QDLSTYNFGT DGFPAAATSA NLCLATGVRG 
GVDWMRKLAF RYRRVKEIYN TYKNNVGGLL GPAKREAWLQ LRAEIEALTD SWLTLALKAL 
SLIHSRTNCV NILVTTTQLI PALAKVLLYG LGIVFPIENI YSATKIGKES CFERIIQRFG 
RKVVYVVIGD GVEEEQGAKK HAMPFWRISS HSDLMALHHA LELEYL

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.