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Protein

Doublesex- and mab-3-related transcription factor A1

Gene

DMRTA1

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

Functioni

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-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

Organism-specific databases

EuPathDBiHostDB:ENSG00000176399.3
HGNCiHGNC:13826 DMRTA1
MIMi614803 gene
neXtProtiNX_Q5VZB9

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

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
HPA062253

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

Phylogenomic databases

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

Family and domain databases

Gene3Di4.10.1040.10, 1 hit
InterProiView protein in InterPro
IPR001275 DM_DNA-bd
IPR036407 DM_DNA-bd_sf
IPR005173 DMA
IPR026607 DMRT/dsx/mab-3
IPR009060 UBA-like_sf
PANTHERiPTHR12322 PTHR12322, 1 hit
PfamiView protein in Pfam
PF00751 DM, 1 hit
PF03474 DMA, 1 hit
SMARTiView protein in SMART
SM00301 DM, 1 hit
SUPFAMiSSF46934 SSF46934, 1 hit
SSF82927 SSF82927, 1 hit
PROSITEiView protein in PROSITE
PS40000 DM_1, 1 hit
PS50809 DM_2, 1 hit

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 dbSNP:rs372873186Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096011 mRNA Translation: BAC04672.1
AL161730 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiDMRTA_HUMAN
AccessioniPrimary (citable) accession number: Q5VZB9
Secondary accession number(s): A1L481, Q8N8Y9, Q9H4B9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: December 7, 2004
Last modified: May 23, 2018
This is version 107 of the entry and version 1 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 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

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