UniProtKB - Q99502 (EYA1_HUMAN)
Eyes absent homolog 1
EYA1
Functioni
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity).
Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442).
Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity).
Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity).
Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity).
Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity).
By similarity1 PublicationCatalytic activityi
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 328 | NucleophileBy similarity | 1 | |
Metal bindingi | 328 | MagnesiumBy similarity | 1 | |
Active sitei | 330 | Proton donorBy similarity | 1 | |
Metal bindingi | 330 | Magnesium; via carbonyl oxygenBy similarity | 1 | |
Metal bindingi | 556 | MagnesiumBy similarity | 1 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- protein serine/threonine phosphatase activity Source: UniProtKB-EC
- protein tyrosine phosphatase activity Source: UniProtKB
- RNA binding Source: Ensembl
GO - Biological processi
- anatomical structure development Source: GO_Central
- anatomical structure morphogenesis Source: ProtInc
- aorta morphogenesis Source: Ensembl
- branching involved in ureteric bud morphogenesis Source: Ensembl
- cell differentiation Source: GO_Central
- chromatin organization Source: UniProtKB-KW
- cochlea morphogenesis Source: Ensembl
- double-strand break repair Source: UniProtKB
- embryonic skeletal system morphogenesis Source: Ensembl
- histone dephosphorylation Source: UniProtKB
- mesodermal cell fate specification Source: Ensembl
- metanephros development Source: Ensembl
- middle ear morphogenesis Source: Ensembl
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: GO_Central
- neuron fate specification Source: Ensembl
- otic vesicle morphogenesis Source: Ensembl
- outer ear morphogenesis Source: Ensembl
- outflow tract morphogenesis Source: Ensembl
- pattern specification process Source: Ensembl
- pharyngeal system development Source: Ensembl
- positive regulation of DNA repair Source: UniProtKB
- positive regulation of epithelial cell proliferation Source: Ensembl
- positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: Ensembl
- protein sumoylation Source: UniProtKB
- regulation of neuron differentiation Source: Ensembl
- response to ionizing radiation Source: UniProtKB
- semicircular canal morphogenesis Source: Ensembl
- sensory perception of sound Source: ProtInc
- striated muscle tissue development Source: Ensembl
Keywordsi
Molecular function | Activator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase |
Biological process | DNA damage, DNA repair, Transcription, Transcription regulation |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q99502 |
Reactomei | R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
SignaLinki | Q99502 |
SIGNORi | Q99502 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:EYA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3519, EYA1 |
MIMi | 601653, gene |
neXtProti | NX_Q99502 |
VEuPathDBi | HostDB:ENSG00000104313 |
Subcellular locationi
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- protein-DNA complex Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Branchiootorenal syndrome 1 (BOR1)6 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064942 | 95 | P → S in BOR1. 1 Publication | 1 | |
Natural variantiVAR_064943 | 140 | G → S in BOR1. 1 Publication | 1 | |
Natural variantiVAR_064944 | 363 | E → V in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016865 | 426 | G → S in BOR1; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909199EnsemblClinVar. | 1 | |
Natural variantiVAR_016866 | 429 | D → G in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016867 | 440 | R → Q in BOR1. 2 PublicationsCorresponds to variant dbSNP:rs121909196EnsemblClinVar. | 1 | |
Natural variantiVAR_005203 | 487 | S → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909200EnsemblClinVar. | 1 | |
Natural variantiVAR_005204 | 505 | L → R in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909201EnsemblClinVar. | 1 | |
Natural variantiVAR_064945 | 514 | L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs112340154Ensembl. | 1 | |
Natural variantiVAR_064946 | 527 | Y → C in BOR1. 1 Publication | 1 | |
Natural variantiVAR_064947 | 569 | M → T in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016869 | 583 | L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs397517920EnsemblClinVar. | 1 |
Otofaciocervical syndrome 1 (OTFCS1)2 Publications
Branchiootic syndrome 1 (BOS1)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_044452 | 242 | S → G in BOS1. 1 PublicationCorresponds to variant dbSNP:rs191838840EnsemblClinVar. | 1 |
Anterior segment anomalies with or without cataract (ASA)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016864 | 363 | E → K in ASA. 1 PublicationCorresponds to variant dbSNP:rs121909198EnsemblClinVar. | 1 | |
Natural variantiVAR_016868 | 547 | R → G in ASA; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909197EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 328 | D → A: Loss of tyrosine phosphatase activity toward H2AX. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 2138 |
GeneReviewsi | EYA1 |
MalaCardsi | EYA1 |
MIMi | 113650, phenotype 166780, phenotype 602588, phenotype |
OpenTargetsi | ENSG00000104313 |
Orphaneti | 107, BOR syndrome 52429, Branchiootic syndrome 2792, Otofaciocervical syndrome |
PharmGKBi | PA27931 |
Miscellaneous databases
Pharosi | Q99502, Tbio |
Genetic variation databases
BioMutai | EYA1 |
DMDMi | 3183005 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000218643 | 1 – 592 | Eyes absent homolog 1Add BLAST | 592 |
Post-translational modificationi
Keywords - PTMi
Ubl conjugationProteomic databases
EPDi | Q99502 |
MassIVEi | Q99502 |
MaxQBi | Q99502 |
PaxDbi | Q99502 |
PeptideAtlasi | Q99502 |
PRIDEi | Q99502 |
ProteomicsDBi | 34020 78303 [Q99502-1] 78304 [Q99502-2] |
PTM databases
DEPODi | EYA1 |
iPTMneti | Q99502 |
PhosphoSitePlusi | Q99502 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000104313, Expressed in kidney and 171 other tissues |
ExpressionAtlasi | Q99502, baseline and differential |
Genevisiblei | Q99502, HS |
Organism-specific databases
HPAi | ENSG00000104313, Tissue enhanced (choroid plexus, parathyroid gland) |
Interactioni
Subunit structurei
Probably interacts with SIX2, SIX4 and SIX5.
Interacts with H2AX in response to DNA damage.
Interacts with SIX3; promotes EYA1 translocation to the nucleus.
By similarityBinary interactionsi
Q99502
With | #Exp. | IntAct |
---|---|---|
SIX1 [Q15475] | 4 | EBI-12244764,EBI-743675 |
Protein-protein interaction databases
BioGRIDi | 108439, 43 interactors |
CORUMi | Q99502 |
DIPi | DIP-60446N |
IntActi | Q99502, 17 interactors |
STRINGi | 9606.ENSP00000342626 |
Miscellaneous databases
RNActi | Q99502, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 95 | DisorderedSequence analysisAdd BLAST | 95 | |
Regioni | 240 – 320 | DisorderedSequence analysisAdd BLAST | 81 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 87 | Polar residuesSequence analysisAdd BLAST | 87 | |
Compositional biasi | 240 – 286 | Polar residuesSequence analysisAdd BLAST | 47 | |
Compositional biasi | 287 – 307 | Basic and acidic residuesSequence analysisAdd BLAST | 21 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3107, Eukaryota |
GeneTreei | ENSGT00950000182978 |
InParanoidi | Q99502 |
OMAi | FTAGMQQ |
OrthoDBi | 1030296at2759 |
PhylomeDBi | Q99502 |
TreeFami | TF319337 |
Family and domain databases
CDDi | cd02601, HAD_Eya, 1 hit |
Gene3Di | 3.40.50.12350, 1 hit |
InterProi | View protein in InterPro IPR006545, EYA_dom IPR042577, EYA_dom_metazoan IPR038102, EYA_dom_sf IPR028472, EYA_fam IPR028471, Eyes_absent_h1 |
PANTHERi | PTHR10190, PTHR10190, 1 hit PTHR10190:SF11, PTHR10190:SF11, 1 hit |
TIGRFAMsi | TIGR01658, EYA-cons_domain, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEMQDLTSPH SRLSGSSESP SGPKLGNSHI NSNSMTPNGT EVKTEPMSSS
60 70 80 90 100
ETASTTADGS LNNFSGSAIG SSSFSPRPTH QFSPPQIYPS NRPYPHILPT
110 120 130 140 150
PSSQTMAAYG QTQFTTGMQQ ATAYATYPQP GQPYGISSYG ALWAGIKTEG
160 170 180 190 200
GLSQSQSPGQ TGFLSYGTSF STPQPGQAPY SYQMQGSSFT TSSGIYTGNN
210 220 230 240 250
SLTNSSGFNS SQQDYPSYPS FGQGQYAQYY NSSPYPAHYM TSSNTSPTTP
260 270 280 290 300
STNATYQLQE PPSGITSQAV TDPTAEYSTI HSPSTPIKDS DSDRLRRGSD
310 320 330 340 350
GKSRGRGRRN NNPSPPPDSD LERVFIWDLD ETIIVFHSLL TGSYANRYGR
360 370 380 390 400
DPPTSVSLGL RMEEMIFNLA DTHLFFNDLE ECDQVHIDDV SSDDNGQDLS
410 420 430 440 450
TYNFGTDGFP AAATSANLCL ATGVRGGVDW MRKLAFRYRR VKEIYNTYKN
460 470 480 490 500
NVGGLLGPAK REAWLQLRAE IEALTDSWLT LALKALSLIH SRTNCVNILV
510 520 530 540 550
TTTQLIPALA KVLLYGLGIV FPIENIYSAT KIGKESCFER IIQRFGRKVV
560 570 580 590
YVVIGDGVEE EQGAKKHAMP FWRISSHSDL MALHHALELE YL
The sequence of this isoform differs from the canonical sequence as follows:
1-41: MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTE → MLLFPQVA
The sequence of this isoform differs from the canonical sequence as follows:
140-144: Missing.
351-380: Missing.
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WB53 | F8WB53_HUMAN | Eyes absent homolog | EYA1 | 591 | Annotation score: | ||
A6NCB9 | A6NCB9_HUMAN | Eyes absent homolog | EYA1 | 586 | Annotation score: | ||
E7EQM5 | E7EQM5_HUMAN | Eyes absent homolog | EYA1 | 558 | Annotation score: | ||
A0A2R8Y6K4 | A0A2R8Y6K4_HUMAN | Eyes absent homolog | EYA1 | 621 | Annotation score: | ||
A0A2R8YET7 | A0A2R8YET7_HUMAN | Eyes absent homolog | EYA1 | 586 | Annotation score: | ||
A0A2R8YGM9 | A0A2R8YGM9_HUMAN | Eyes absent homolog | EYA1 | 585 | Annotation score: | ||
E5RHZ7 | E5RHZ7_HUMAN | Eyes absent homolog | EYA1 | 148 | Annotation score: | ||
A0A2R8YF73 | A0A2R8YF73_HUMAN | Eyes absent homolog | EYA1 | 90 | Annotation score: | ||
E5RIQ7 | E5RIQ7_HUMAN | Eyes absent homolog | EYA1 | 212 | Annotation score: | ||
A0A2R8YFS6 | A0A2R8YFS6_HUMAN | Eyes absent homolog | EYA1 | 82 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 33 | N → D in AAL73437 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_024439 | 20 | P → A. Corresponds to variant dbSNP:rs1445404EnsemblClinVar. | 1 | |
Natural variantiVAR_070033 | 41 | E → K Found in a patient with congenital cataract. 1 PublicationCorresponds to variant dbSNP:rs561111097EnsemblClinVar. | 1 | |
Natural variantiVAR_064942 | 95 | P → S in BOR1. 1 Publication | 1 | |
Natural variantiVAR_064943 | 140 | G → S in BOR1. 1 Publication | 1 | |
Natural variantiVAR_044452 | 242 | S → G in BOS1. 1 PublicationCorresponds to variant dbSNP:rs191838840EnsemblClinVar. | 1 | |
Natural variantiVAR_016864 | 363 | E → K in ASA. 1 PublicationCorresponds to variant dbSNP:rs121909198EnsemblClinVar. | 1 | |
Natural variantiVAR_064944 | 363 | E → V in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016865 | 426 | G → S in BOR1; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909199EnsemblClinVar. | 1 | |
Natural variantiVAR_016866 | 429 | D → G in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016867 | 440 | R → Q in BOR1. 2 PublicationsCorresponds to variant dbSNP:rs121909196EnsemblClinVar. | 1 | |
Natural variantiVAR_005203 | 487 | S → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909200EnsemblClinVar. | 1 | |
Natural variantiVAR_005204 | 505 | L → R in BOR1. 1 PublicationCorresponds to variant dbSNP:rs121909201EnsemblClinVar. | 1 | |
Natural variantiVAR_064945 | 514 | L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs112340154Ensembl. | 1 | |
Natural variantiVAR_064946 | 527 | Y → C in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016868 | 547 | R → G in ASA; with cataract. 1 PublicationCorresponds to variant dbSNP:rs121909197EnsemblClinVar. | 1 | |
Natural variantiVAR_064947 | 569 | M → T in BOR1. 1 Publication | 1 | |
Natural variantiVAR_016869 | 583 | L → P in BOR1. 1 PublicationCorresponds to variant dbSNP:rs397517920EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001486 | 1 – 41 | MEMQD…PNGTE → MLLFPQVA in isoform EYA1B. CuratedAdd BLAST | 41 | |
Alternative sequenceiVSP_045793 | 140 – 144 | Missing in isoform EYA1D. 1 Publication | 5 | |
Alternative sequenceiVSP_045794 | 351 – 380 | Missing in isoform EYA1D. 1 PublicationAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y10260 Genomic DNA Translation: CAA71309.1 AJ000097 mRNA Translation: CAA03922.1 AJ000098 mRNA Translation: CAA03923.1 AF467247 mRNA Translation: AAL73437.1 AC016465 Genomic DNA No translation available. AC022858 Genomic DNA No translation available. CH471068 Genomic DNA Translation: EAW86976.1 BC121799 mRNA Translation: AAI21800.1 |
CCDSi | CCDS34906.1 [Q99502-1] |
RefSeqi | NP_000494.2, NM_000503.5 [Q99502-1] NP_001275503.1, NM_001288574.1 NP_001275504.1, NM_001288575.1 NP_742055.1, NM_172058.3 [Q99502-1] NP_742056.1, NM_172059.3 NP_742057.1, NM_172060.3 XP_016868695.1, XM_017013206.1 XP_016868701.1, XM_017013212.1 [Q99502-2] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y10260 Genomic DNA Translation: CAA71309.1 AJ000097 mRNA Translation: CAA03922.1 AJ000098 mRNA Translation: CAA03923.1 AF467247 mRNA Translation: AAL73437.1 AC016465 Genomic DNA No translation available. AC022858 Genomic DNA No translation available. CH471068 Genomic DNA Translation: EAW86976.1 BC121799 mRNA Translation: AAI21800.1 |
CCDSi | CCDS34906.1 [Q99502-1] |
RefSeqi | NP_000494.2, NM_000503.5 [Q99502-1] NP_001275503.1, NM_001288574.1 NP_001275504.1, NM_001288575.1 NP_742055.1, NM_172058.3 [Q99502-1] NP_742056.1, NM_172059.3 NP_742057.1, NM_172060.3 XP_016868695.1, XM_017013206.1 XP_016868701.1, XM_017013212.1 [Q99502-2] |
3D structure databases
AlphaFoldDBi | Q99502 |
SMRi | Q99502 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108439, 43 interactors |
CORUMi | Q99502 |
DIPi | DIP-60446N |
IntActi | Q99502, 17 interactors |
STRINGi | 9606.ENSP00000342626 |
PTM databases
DEPODi | EYA1 |
iPTMneti | Q99502 |
PhosphoSitePlusi | Q99502 |
Genetic variation databases
BioMutai | EYA1 |
DMDMi | 3183005 |
Proteomic databases
EPDi | Q99502 |
MassIVEi | Q99502 |
MaxQBi | Q99502 |
PaxDbi | Q99502 |
PeptideAtlasi | Q99502 |
PRIDEi | Q99502 |
ProteomicsDBi | 34020 78303 [Q99502-1] 78304 [Q99502-2] |
Protocols and materials databases
Antibodypediai | 25098, 231 antibodies from 31 providers |
DNASUi | 2138 |
Genome annotation databases
Organism-specific databases
CTDi | 2138 |
DisGeNETi | 2138 |
GeneCardsi | EYA1 |
GeneReviewsi | EYA1 |
HGNCi | HGNC:3519, EYA1 |
HPAi | ENSG00000104313, Tissue enhanced (choroid plexus, parathyroid gland) |
MalaCardsi | EYA1 |
MIMi | 113650, phenotype 166780, phenotype 601653, gene 602588, phenotype |
neXtProti | NX_Q99502 |
OpenTargetsi | ENSG00000104313 |
Orphaneti | 107, BOR syndrome 52429, Branchiootic syndrome 2792, Otofaciocervical syndrome |
PharmGKBi | PA27931 |
VEuPathDBi | HostDB:ENSG00000104313 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3107, Eukaryota |
GeneTreei | ENSGT00950000182978 |
InParanoidi | Q99502 |
OMAi | FTAGMQQ |
OrthoDBi | 1030296at2759 |
PhylomeDBi | Q99502 |
TreeFami | TF319337 |
Enzyme and pathway databases
PathwayCommonsi | Q99502 |
Reactomei | R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
SignaLinki | Q99502 |
SIGNORi | Q99502 |
Miscellaneous databases
BioGRID-ORCSi | 2138, 8 hits in 1072 CRISPR screens |
ChiTaRSi | EYA1, human |
GeneWikii | EYA1 |
GenomeRNAii | 2138 |
Pharosi | Q99502, Tbio |
PROi | PR:Q99502 |
RNActi | Q99502, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000104313, Expressed in kidney and 171 other tissues |
ExpressionAtlasi | Q99502, baseline and differential |
Genevisiblei | Q99502, HS |
Family and domain databases
CDDi | cd02601, HAD_Eya, 1 hit |
Gene3Di | 3.40.50.12350, 1 hit |
InterProi | View protein in InterPro IPR006545, EYA_dom IPR042577, EYA_dom_metazoan IPR038102, EYA_dom_sf IPR028472, EYA_fam IPR028471, Eyes_absent_h1 |
PANTHERi | PTHR10190, PTHR10190, 1 hit PTHR10190:SF11, PTHR10190:SF11, 1 hit |
TIGRFAMsi | TIGR01658, EYA-cons_domain, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | EYA1_HUMAN | |
Accessioni | Q99502Primary (citable) accession number: Q99502 Secondary accession number(s): A6NHQ0 Q8WX80 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | July 15, 1998 | |
Last modified: | May 25, 2022 | |
This is version 185 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families