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Protein

Doublesex- and mab-3-related transcription factor A1

Gene

DMRTA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi97 – 144DMPROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Doublesex- and mab-3-related transcription factor A1
Gene namesi
Name:DMRTA1
Synonyms:DMO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:13826. DMRTA1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi63951.
OpenTargetsiENSG00000176399.
PharmGKBiPA27384.

Polymorphism and mutation databases

BioMutaiDMRTA1.
DMDMi74747785.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002427001 – 504Doublesex- and mab-3-related transcription factor A1Add BLAST504

Proteomic databases

PaxDbiQ5VZB9.
PeptideAtlasiQ5VZB9.
PRIDEiQ5VZB9.

PTM databases

iPTMnetiQ5VZB9.
PhosphoSitePlusiQ5VZB9.

Expressioni

Tissue specificityi

Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary.1 Publication

Gene expression databases

BgeeiENSG00000176399.
CleanExiHS_DMRTA1.
GenevisibleiQ5VZB9. HS.

Organism-specific databases

HPAiHPA044764.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122014. 3 interactors.
IntActiQ5VZB9. 3 interactors.
STRINGi9606.ENSP00000319651.

Structurei

3D structure databases

ProteinModelPortaliQ5VZB9.
SMRiQ5VZB9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DMRT family.Curated
Contains 1 DM DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000231615.
HOVERGENiHBG058695.
InParanoidiQ5VZB9.
KOiK19491.
OMAiGRLYFRP.
OrthoDBiEOG091G0K2L.
PhylomeDBiQ5VZB9.
TreeFamiTF317837.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view]
SMARTiSM00301. DM. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEiPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5VZB9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MERSQCGSRD RGVSGRPHLA PGLVVAAPPP PSPALPVPSG MQVPPAFLRP
60 70 80 90 100
PSLFLRAAAA AAAAAAATSG SGGCPPAPGL ESGVGAVGCG YPRTPKCARC
110 120 130 140 150
RNHGVVSALK GHKRFCRWRD CACAKCTLIA ERQRVMAAQV ALRRQQAQEE
160 170 180 190 200
SEARGLQRLL CSGLSWPPGG RASGGGGRAE NPQSTGGPAA GAALGLGALR
210 220 230 240 250
QASGSATPAF EVFQQDYPEE KQEQKESKCE SCQNGQEELI SKSHQLYLGS
260 270 280 290 300
SSRSNGVIGK QSIGSSISEY SNKPDSILSP HPGEQSGGEE SPRSLSSSDL
310 320 330 340 350
ESGNESEWVK DLTATKASLP TVSSRPRDPL DILTKIFPNY RRSRLEGILR
360 370 380 390 400
FCKGDVVQAI EQVLNGKEHK PDNRNLANSE ELENTAFQRA SSFSLAGIGF
410 420 430 440 450
GTLGNKSAFS PLQTTSASYG GDSSLYGVNP RVGISPLRLA YSSAGRGLSG
460 470 480 490 500
FMSPYLTPGL VPTLPFRPAL DYAFSGMIRD SSYLSSKDSI TCGRLYFRPN

QDNP
Length:504
Mass (Da):53,125
Last modified:December 7, 2004 - v1
Checksum:iE482189FB80B6A6E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti212V → F in BAC04672 (PubMed:14702039).Curated1
Sequence conflicti314A → S in BAC04672 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036331342R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs372873186dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096011 mRNA. Translation: BAC04672.1.
AL161730 Genomic DNA. Translation: CAH73857.1.
BC130435 mRNA. Translation: AAI30436.1.
BC130437 mRNA. Translation: AAI30438.1.
AJ290954 mRNA. Translation: CAC16590.1.
CCDSiCCDS6514.1.
RefSeqiNP_071443.2. NM_022160.2.
UniGeneiHs.371976.

Genome annotation databases

EnsembliENST00000325870; ENSP00000319651; ENSG00000176399.
GeneIDi63951.
KEGGihsa:63951.
UCSCiuc003zpp.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096011 mRNA. Translation: BAC04672.1.
AL161730 Genomic DNA. Translation: CAH73857.1.
BC130435 mRNA. Translation: AAI30436.1.
BC130437 mRNA. Translation: AAI30438.1.
AJ290954 mRNA. Translation: CAC16590.1.
CCDSiCCDS6514.1.
RefSeqiNP_071443.2. NM_022160.2.
UniGeneiHs.371976.

3D structure databases

ProteinModelPortaliQ5VZB9.
SMRiQ5VZB9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122014. 3 interactors.
IntActiQ5VZB9. 3 interactors.
STRINGi9606.ENSP00000319651.

PTM databases

iPTMnetiQ5VZB9.
PhosphoSitePlusiQ5VZB9.

Polymorphism and mutation databases

BioMutaiDMRTA1.
DMDMi74747785.

Proteomic databases

PaxDbiQ5VZB9.
PeptideAtlasiQ5VZB9.
PRIDEiQ5VZB9.

Protocols and materials databases

DNASUi63951.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325870; ENSP00000319651; ENSG00000176399.
GeneIDi63951.
KEGGihsa:63951.
UCSCiuc003zpp.2. human.

Organism-specific databases

CTDi63951.
DisGeNETi63951.
GeneCardsiDMRTA1.
H-InvDBHIX0007957.
HGNCiHGNC:13826. DMRTA1.
HPAiHPA044764.
MIMi614803. gene.
neXtProtiNX_Q5VZB9.
OpenTargetsiENSG00000176399.
PharmGKBiPA27384.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3815. Eukaryota.
ENOG410XSK9. LUCA.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000231615.
HOVERGENiHBG058695.
InParanoidiQ5VZB9.
KOiK19491.
OMAiGRLYFRP.
OrthoDBiEOG091G0K2L.
PhylomeDBiQ5VZB9.
TreeFamiTF317837.

Miscellaneous databases

GenomeRNAii63951.
PROiQ5VZB9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176399.
CleanExiHS_DMRTA1.
GenevisibleiQ5VZB9. HS.

Family and domain databases

Gene3Di4.10.1040.10. 1 hit.
InterProiIPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view]
PANTHERiPTHR12322. PTHR12322. 1 hit.
PfamiPF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view]
SMARTiSM00301. DM. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEiPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDMRTA_HUMAN
AccessioniPrimary (citable) accession number: Q5VZB9
Secondary accession number(s): A1L481, Q8N8Y9, Q9H4B9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: December 7, 2004
Last modified: November 2, 2016
This is version 96 of the entry and version 1 of the sequence. [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 chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.