Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi97 – 14448DMPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. core promoter proximal region sequence-specific DNA binding Source: GO_Central
  2. metal ion binding Source: UniProtKB-KW
  3. protein homodimerization activity Source: GO_Central
  4. sequence-specific DNA binding transcription factor activity Source: GO_Central

GO - Biological processi

  1. male mating behavior Source: Ensembl
  2. ovarian follicle development Source: Ensembl
  3. sex differentiation Source: GO_Central
  4. transcription, DNA-templated Source: UniProtKB-KW
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
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:13826. DMRTA1.

Subcellular locationi

  1. Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27384.

Polymorphism and mutation databases

BioMutaiDMRTA1.
DMDMi74747785.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 504504Doublesex- and mab-3-related transcription factor A1PRO_0000242700Add
BLAST

Proteomic databases

PaxDbiQ5VZB9.
PRIDEiQ5VZB9.

PTM databases

PhosphoSiteiQ5VZB9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ5VZB9.
CleanExiHS_DMRTA1.
GenevestigatoriQ5VZB9.

Organism-specific databases

HPAiHPA044764.

Interactioni

Protein-protein interaction databases

BioGridi122014. 3 interactions.
IntActiQ5VZB9. 3 interactions.
STRINGi9606.ENSP00000319651.

Structurei

3D structure databases

ProteinModelPortaliQ5VZB9.
SMRiQ5VZB9. Positions 92-139.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG150784.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000231615.
HOVERGENiHBG058695.
InParanoidiQ5VZB9.
OMAiGRLYFRP.
OrthoDBiEOG7TXKGH.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti212 – 2121V → F in BAC04672 (PubMed:14702039).Curated
Sequence conflicti314 – 3141A → S in BAC04672 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti342 – 3421R → C in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036331

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.1. human.

Polymorphism and mutation databases

BioMutaiDMRTA1.

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. Positions 92-139.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122014. 3 interactions.
IntActiQ5VZB9. 3 interactions.
STRINGi9606.ENSP00000319651.

PTM databases

PhosphoSiteiQ5VZB9.

Polymorphism and mutation databases

BioMutaiDMRTA1.
DMDMi74747785.

Proteomic databases

PaxDbiQ5VZB9.
PRIDEiQ5VZB9.

Protocols and materials databases

DNASUi63951.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325870; ENSP00000319651; ENSG00000176399.
GeneIDi63951.
KEGGihsa:63951.
UCSCiuc003zpp.1. human.

Organism-specific databases

CTDi63951.
GeneCardsiGC09P022436.
H-InvDBHIX0007957.
HGNCiHGNC:13826. DMRTA1.
HPAiHPA044764.
MIMi614803. gene.
neXtProtiNX_Q5VZB9.
PharmGKBiPA27384.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG150784.
GeneTreeiENSGT00550000074486.
HOGENOMiHOG000231615.
HOVERGENiHBG058695.
InParanoidiQ5VZB9.
OMAiGRLYFRP.
OrthoDBiEOG7TXKGH.
PhylomeDBiQ5VZB9.
TreeFamiTF317837.

Miscellaneous databases

GenomeRNAii63951.
NextBioi65744.
PROiQ5VZB9.
SOURCEiSearch...

Gene expression databases

BgeeiQ5VZB9.
CleanExiHS_DMRTA1.
GenevestigatoriQ5VZB9.

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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination."
    Ottolenghi C., Fellous M., Barbieri M., McElreavey K.
    Genomics 79:333-343(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 98-360, TISSUE SPECIFICITY.
    Tissue: Testis.
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-342.

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: April 29, 2015
This is version 86 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

External Data

Dasty 3

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 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.