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UniProtKB - Q8IX12 (CCAR1_HUMAN)

Protein

Cell division cycle and apoptosis regulator protein 1

Gene

CCAR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938).By similarity3 Publications

GO - Molecular functioni

  • nuclear receptor transcription coactivator activity Source: MGI
  • RNA binding Source: UniProtKB
  • RNA polymerase II distal enhancer sequence-specific DNA binding Source: UniProtKB
  • transcription coactivator activity Source: UniProtKB
  • transcription corepressor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, Repressor
Biological processApoptosis, Cell cycle, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Cell division cycle and apoptosis regulator protein 1
Alternative name(s):
Cell cycle and apoptosis regulatory protein 1
Short name:
CARP-1
Death inducer with SAP domain
Gene namesi
Name:CCAR1
Synonyms:CARP1, DIS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000060339.13
HGNCiHGNC:24236 CCAR1
MIMi612569 gene
neXtProtiNX_Q8IX12

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi55749
OpenTargetsiENSG00000060339
PharmGKBiPA134920227

Polymorphism and mutation databases

BioMutaiCCAR1
DMDMi94707499

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002331481 – 1150Cell division cycle and apoptosis regulator protein 1Add BLAST1150

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei456PhosphoserineCombined sources1
Modified residuei627PhosphothreonineCombined sources1
Cross-linki637Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei667PhosphothreonineCombined sources1
Modified residuei685PhosphoserineCombined sources1
Modified residuei697PhosphoserineCombined sources1
Modified residuei861PhosphothreonineCombined sources1
Cross-linki1012Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki1012Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki1067Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1135Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8IX12
MaxQBiQ8IX12
PaxDbiQ8IX12
PeptideAtlasiQ8IX12
PRIDEiQ8IX12
ProteomicsDBi70961
70962 [Q8IX12-2]

PTM databases

iPTMnetiQ8IX12
PhosphoSitePlusiQ8IX12

Expressioni

Tissue specificityi

Expressed in various epithelial cancer cell lines, including breast, colon, prostate, pancreatic and leukemia. Expression is regulated by growth factors.1 Publication

Gene expression databases

BgeeiENSG00000060339 Expressed in 202 organ(s), highest expression level in testis
CleanExiHS_CCAR1
ExpressionAtlasiQ8IX12 baseline and differential
GenevisibleiQ8IX12 HS

Organism-specific databases

HPAiHPA007856
HPA048513

Interactioni

Subunit structurei

Directly interacts with ESR1, NR3C1 and p53/TP53 (By similarity). Interacts (via N-terminus) with CALCOCO1. Interacts with MED1 (By similarity). Interacts with GATA1. Interacts with AR and GATA2.By similarity3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi120867, 57 interactors
CORUMiQ8IX12
DIPiDIP-27607N
IntActiQ8IX12, 36 interactors
MINTiQ8IX12
STRINGi9606.ENSP00000265872

Structurei

3D structure databases

ProteinModelPortaliQ8IX12
SMRiQ8IX12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini636 – 670SAPPROSITE-ProRule annotationAdd BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 249Interaction with AR1 PublicationAdd BLAST249
Regioni203 – 660Interaction with GATA21 PublicationAdd BLAST458
Regioni643 – 1150Interaction with GATA11 PublicationAdd BLAST508

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili594 – 618Sequence analysisAdd BLAST25
Coiled coili1033 – 1114Sequence analysisAdd BLAST82

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi73 – 79Poly-Ala7
Compositional biasi293 – 361Arg-richAdd BLAST69
Compositional biasi673 – 889Glu-richAdd BLAST217

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4246 Eukaryota
ENOG410Z0UJ LUCA
GeneTreeiENSGT00530000063672
HOVERGENiHBG079908
InParanoidiQ8IX12
OMAiMITVNRD
OrthoDBiEOG091G03QV
PhylomeDBiQ8IX12
TreeFamiTF316387

Family and domain databases

Gene3Di1.10.720.30, 1 hit
InterProiView protein in InterPro
IPR025224 CCAR1/CCAR2
IPR025954 DBC1/CARP1_inactive_NUDIX_dom
IPR011992 EF-hand-dom_pair
IPR012340 NA-bd_OB-fold
IPR025223 S1-like_RNA-bd_dom
IPR003034 SAP_dom
IPR036361 SAP_dom_sf
PANTHERiPTHR14304 PTHR14304, 1 hit
PfamiView protein in Pfam
PF14443 DBC1, 1 hit
PF14444 S1-like, 1 hit
PF02037 SAP, 1 hit
SMARTiView protein in SMART
SM01122 DBC1, 1 hit
SM00513 SAP, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF50249 SSF50249, 1 hit
SSF68906 SSF68906, 1 hit
PROSITEiView protein in PROSITE
PS50800 SAP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IX12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAQFGGQKNP PWATQFTATA VSQPAALGVQ QPSLLGASPT IYTQQTALAA 
        60         70         80         90        100
AGLTTQTPAN YQLTQTAALQ QQAAAAAAAL QQQYSQPQQA LYSVQQQLQQ 
       110        120        130        140        150
PQQTLLTQPA VALPTSLSLS TPQPTAQITV SYPTPRSSQQ QTQPQKQRVF 
       160        170        180        190        200
TGVVTKLHDT FGFVDEDVFF QLSAVKGKTP QVGDRVLVEA TYNPNMPFKW 
       210        220        230        240        250
NAQRIQTLPN QNQSQTQPLL KTPPAVLQPI APQTTFGVQT QPQPQSLLQA 
       260        270        280        290        300
QISAASITPL LQTQPQPLLQ QPQQKAGLLQ PPVRIVSQPQ PARRLDPPSR 
       310        320        330        340        350
FSGRNDRGDQ VPNRKDDRSR ERERERRRSR ERSPQRKRSR ERSPRRERER 
       360        370        380        390        400
SPRRVRRVVP RYTVQFSKFS LDCPSCDMME LRRRYQNLYI PSDFFDAQFT 
       410        420        430        440        450
WVDAFPLSRP FQLGNYCNFY VMHREVESLE KNMAILDPPD ADHLYSAKVM 
       460        470        480        490        500
LMASPSMEDL YHKSCALAED PQELRDGFQH PARLVKFLVG MKGKDEAMAI 
       510        520        530        540        550
GGHWSPSLDG PDPEKDPSVL IKTAIRCCKA LTGIDLSVCT QWYRFAEIRY 
       560        570        580        590        600
HRPEETHKGR TVPAHVETVV LFFPDVWHCL PTRSEWETLS RGYKQQLVEK 
       610        620        630        640        650
LQGERKEADG EQDEEEKDDG EAKEISTPTH WSKLDPKTMK VNDLRKELES 
       660        670        680        690        700
RALSSKGLKS QLIARLTKQL KVEEQKEEQK ELEKSEKEED EDDDRKSEDD 
       710        720        730        740        750
KEEEERKRQE EIERQRRERR YILPDEPAII VHPNWAAKSG KFDCSIMSLS 
       760        770        780        790        800
VLLDYRLEDN KEHSFEVSLF AELFNEMLQR DFGVRIYKSL LSLPEKEDKK 
       810        820        830        840        850
EKDKKSKKDE RKDKKEERDD ETDEPKPKRR KSGDDKDKKE DRDERKKEDK 
       860        870        880        890        900
RKDDSKDDDE TEEDNNQDEY DPMEAEEAED EEDDRDEEEM TKRDDKRDIN 
       910        920        930        940        950
RYCKERPSKD KEKEKTQMIT INRDLLMAFV YFDQSHCGYL LEKDLEEILY 
       960        970        980        990       1000
TLGLHLSRAQ VKKLLNKVVL RESCFYRKLT DTSKDEENHE ESESLQEDML 
      1010       1020       1030       1040       1050
GNRLLLPTPT VKQESKDVEE NVGLIVYNGA MVDVGSLLQK LEKSEKVRAE 
      1060       1070       1080       1090       1100
VEQKLQLLEE KTDEDEKTIL NLENSNKSLS GELREVKKDL SQLQENLKIS 
      1110       1120       1130       1140       1150
ENMNLQFENQ MNKTIRNLST VMDEIHTVLK KDNVKNEDKD QKSKENGASV
Length:1,150
Mass (Da):132,821
Last modified:May 2, 2006 - v2
Checksum:i30618DCC8097F552
GO
Isoform 2 (identifier: Q8IX12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-97: Missing.

Note: No experimental confirmation available.
Show »
Length:1,135
Mass (Da):131,043
Checksum:i1F36D655EC82941E
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H2E6F5H2E6_HUMAN
Cell division cycle and apoptosis r...
CCAR1
772Annotation score:
H0YFJ7H0YFJ7_HUMAN
Cell division cycle and apoptosis r...
CCAR1
290Annotation score:
F5H1H2F5H1H2_HUMAN
Cell division cycle and apoptosis r...
CCAR1
646Annotation score:
A0A0C4DGG8A0A0C4DGG8_HUMAN
Cell division cycle and apoptosis r...
CCAR1
1,043Annotation score:
F5H3E1F5H3E1_HUMAN
Cell division cycle and apoptosis r...
CCAR1
568Annotation score:
F5H7M9F5H7M9_HUMAN
Cell division cycle and apoptosis r...
CCAR1
171Annotation score:
F5H3I8F5H3I8_HUMAN
Cell division cycle and apoptosis r...
CCAR1
119Annotation score:
F5H1L3F5H1L3_HUMAN
Cell division cycle and apoptosis r...
CCAR1
84Annotation score:
F5H808F5H808_HUMAN
Cell division cycle and apoptosis r...
CCAR1
95Annotation score:
H0YFT7H0YFT7_HUMAN
Cell division cycle and apoptosis r...
CCAR1
48Annotation score:

Sequence cautioni

The sequence AAH26036 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI08683 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA91354 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti296D → Y in BAA91354 (PubMed:14702039).Curated1
Sequence conflicti305N → S in BAG60310 (PubMed:14702039).Curated1
Sequence conflicti492K → E in BAA91847 (PubMed:14702039).Curated1
Sequence conflicti618D → Y in AAH15475 (PubMed:15489334).Curated1
Sequence conflicti650S → G in AAO17319 (Ref. 2) Curated1
Sequence conflicti650S → G in BAA91700 (PubMed:14702039).Curated1
Sequence conflicti723L → S in BAF85338 (PubMed:14702039).Curated1
Sequence conflicti801 – 803EKD → KKK in AAH89420 (PubMed:15489334).Curated3
Sequence conflicti816 – 818EER → KKK in AAH15475 (PubMed:15489334).Curated3
Sequence conflicti853D → G (PubMed:12816952).Curated1
Sequence conflicti853D → G (Ref. 2) Curated1
Sequence conflicti853D → G in BAA91700 (PubMed:14702039).Curated1
Sequence conflicti1104N → S (PubMed:12816952).Curated1
Sequence conflicti1104N → S (Ref. 2) Curated1
Sequence conflicti1104N → S in BAA91700 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058330588T → I. Corresponds to variant dbSNP:rs1782338Ensembl.1
Natural variantiVAR_035497607E → K in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_058331681E → G. Corresponds to variant dbSNP:rs1060145Ensembl.1
Natural variantiVAR_058332747M → V. Corresponds to variant dbSNP:rs11542602Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03773683 – 97Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY249140 mRNA Translation: AAP82002.1
AF465616 mRNA Translation: AAO17319.1
AK000741 mRNA Translation: BAA91354.1 Different initiation.
AK001452 mRNA Translation: BAA91700.1
AK001701 mRNA Translation: BAA91847.1
AK023438 mRNA Translation: BAB14574.1
AK298004 mRNA Translation: BAG60310.1
AK299307 mRNA Translation: BAG61320.1
AK292649 mRNA Translation: BAF85338.1
AL513534 Genomic DNA No translation available.
AL391539 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54302.1
BC015475 mRNA Translation: AAH15475.1
BC026036 mRNA Translation: AAH26036.1 Sequence problems.
BC089420 mRNA Translation: AAH89420.1
BC130626 mRNA Translation: AAI30627.1
BC132725 mRNA Translation: AAI32726.1
BC108682 mRNA Translation: AAI08683.1 Sequence problems.
CCDSiCCDS60547.1 [Q8IX12-2]
CCDS7282.1 [Q8IX12-1]
RefSeqiNP_001269888.1, NM_001282959.1 [Q8IX12-2]
NP_001269889.1, NM_001282960.1 [Q8IX12-2]
NP_060707.2, NM_018237.3 [Q8IX12-1]
UniGeneiHs.49853

Genome annotation databases

EnsembliENST00000265872; ENSP00000265872; ENSG00000060339 [Q8IX12-1]
ENST00000543719; ENSP00000445254; ENSG00000060339 [Q8IX12-2]
GeneIDi55749
KEGGihsa:55749
UCSCiuc001joo.5 human [Q8IX12-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY249140 mRNA Translation: AAP82002.1
AF465616 mRNA Translation: AAO17319.1
AK000741 mRNA Translation: BAA91354.1 Different initiation.
AK001452 mRNA Translation: BAA91700.1
AK001701 mRNA Translation: BAA91847.1
AK023438 mRNA Translation: BAB14574.1
AK298004 mRNA Translation: BAG60310.1
AK299307 mRNA Translation: BAG61320.1
AK292649 mRNA Translation: BAF85338.1
AL513534 Genomic DNA No translation available.
AL391539 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54302.1
BC015475 mRNA Translation: AAH15475.1
BC026036 mRNA Translation: AAH26036.1 Sequence problems.
BC089420 mRNA Translation: AAH89420.1
BC130626 mRNA Translation: AAI30627.1
BC132725 mRNA Translation: AAI32726.1
BC108682 mRNA Translation: AAI08683.1 Sequence problems.
CCDSiCCDS60547.1 [Q8IX12-2]
CCDS7282.1 [Q8IX12-1]
RefSeqiNP_001269888.1, NM_001282959.1 [Q8IX12-2]
NP_001269889.1, NM_001282960.1 [Q8IX12-2]
NP_060707.2, NM_018237.3 [Q8IX12-1]
UniGeneiHs.49853

3D structure databases

ProteinModelPortaliQ8IX12
SMRiQ8IX12
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120867, 57 interactors
CORUMiQ8IX12
DIPiDIP-27607N
IntActiQ8IX12, 36 interactors
MINTiQ8IX12
STRINGi9606.ENSP00000265872

PTM databases

iPTMnetiQ8IX12
PhosphoSitePlusiQ8IX12

Polymorphism and mutation databases

BioMutaiCCAR1
DMDMi94707499

Proteomic databases

EPDiQ8IX12
MaxQBiQ8IX12
PaxDbiQ8IX12
PeptideAtlasiQ8IX12
PRIDEiQ8IX12
ProteomicsDBi70961
70962 [Q8IX12-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265872; ENSP00000265872; ENSG00000060339 [Q8IX12-1]
ENST00000543719; ENSP00000445254; ENSG00000060339 [Q8IX12-2]
GeneIDi55749
KEGGihsa:55749
UCSCiuc001joo.5 human [Q8IX12-1]

Organism-specific databases

CTDi55749
DisGeNETi55749
EuPathDBiHostDB:ENSG00000060339.13
GeneCardsiCCAR1
HGNCiHGNC:24236 CCAR1
HPAiHPA007856
HPA048513
MIMi612569 gene
neXtProtiNX_Q8IX12
OpenTargetsiENSG00000060339
PharmGKBiPA134920227
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4246 Eukaryota
ENOG410Z0UJ LUCA
GeneTreeiENSGT00530000063672
HOVERGENiHBG079908
InParanoidiQ8IX12
OMAiMITVNRD
OrthoDBiEOG091G03QV
PhylomeDBiQ8IX12
TreeFamiTF316387

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Miscellaneous databases

ChiTaRSiCCAR1 human
GeneWikiiCCAR1
GenomeRNAii55749
PROiPR:Q8IX12
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000060339 Expressed in 202 organ(s), highest expression level in testis
CleanExiHS_CCAR1
ExpressionAtlasiQ8IX12 baseline and differential
GenevisibleiQ8IX12 HS

Family and domain databases

Gene3Di1.10.720.30, 1 hit
InterProiView protein in InterPro
IPR025224 CCAR1/CCAR2
IPR025954 DBC1/CARP1_inactive_NUDIX_dom
IPR011992 EF-hand-dom_pair
IPR012340 NA-bd_OB-fold
IPR025223 S1-like_RNA-bd_dom
IPR003034 SAP_dom
IPR036361 SAP_dom_sf
PANTHERiPTHR14304 PTHR14304, 1 hit
PfamiView protein in Pfam
PF14443 DBC1, 1 hit
PF14444 S1-like, 1 hit
PF02037 SAP, 1 hit
SMARTiView protein in SMART
SM01122 DBC1, 1 hit
SM00513 SAP, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF50249 SSF50249, 1 hit
SSF68906 SSF68906, 1 hit
PROSITEiView protein in PROSITE
PS50800 SAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCCAR1_HUMAN
AccessioniPrimary (citable) accession number: Q8IX12
Secondary accession number(s): A0JLT7
, A1L4P7, A8K9D4, B4DNP8, B4DRK8, Q32NE3, Q5EBM3, Q5VUP6, Q6PIZ0, Q6X935, Q9H8N4, Q9NVA7, Q9NVQ0, Q9NWM6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 2, 2006
Last modified: September 12, 2018
This is version 139 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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