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Q5VZB9

- DMRTA_HUMAN

UniProt

Q5VZB9 - DMRTA_HUMAN

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Protein

Doublesex- and mab-3-related transcription factor A1

Gene
DMRTA1, DMO
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi97 – 14448DMAdd
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. male mating behavior Source: Ensembl
  2. ovarian follicle development Source: Ensembl
  3. 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: Chromosome 9

Organism-specific databases

HGNCiHGNC:13826. DMRTA1.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27384.

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the DMRT family.

Phylogenomic databases

eggNOGiNOG150784.
HOGENOMiHOG000231615.
HOVERGENiHBG058695.
InParanoidiQ5VZB9.
OMAiCGYPRTP.
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

MERSQCGSRD RGVSGRPHLA PGLVVAAPPP PSPALPVPSG MQVPPAFLRP    50
PSLFLRAAAA AAAAAAATSG SGGCPPAPGL ESGVGAVGCG YPRTPKCARC 100
RNHGVVSALK GHKRFCRWRD CACAKCTLIA ERQRVMAAQV ALRRQQAQEE 150
SEARGLQRLL CSGLSWPPGG RASGGGGRAE NPQSTGGPAA GAALGLGALR 200
QASGSATPAF EVFQQDYPEE KQEQKESKCE SCQNGQEELI SKSHQLYLGS 250
SSRSNGVIGK QSIGSSISEY SNKPDSILSP HPGEQSGGEE SPRSLSSSDL 300
ESGNESEWVK DLTATKASLP TVSSRPRDPL DILTKIFPNY RRSRLEGILR 350
FCKGDVVQAI EQVLNGKEHK PDNRNLANSE ELENTAFQRA SSFSLAGIGF 400
GTLGNKSAFS PLQTTSASYG GDSSLYGVNP RVGISPLRLA YSSAGRGLSG 450
FMSPYLTPGL VPTLPFRPAL DYAFSGMIRD SSYLSSKDSI TCGRLYFRPN 500
QDNP 504
Length:504
Mass (Da):53,125
Last modified:December 7, 2004 - v1
Checksum:iE482189FB80B6A6E
GO

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti212 – 2121V → F in BAC04672. 1 Publication
Sequence conflicti314 – 3141A → S in BAC04672. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 databases

DMDMi74747785.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6514.1.
RefSeqi NP_071443.2. NM_022160.2.
UniGenei Hs.371976.

3D structure databases

ProteinModelPortali Q5VZB9.
SMRi Q5VZB9. Positions 92-139.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122014. 3 interactions.
IntActi Q5VZB9. 3 interactions.
STRINGi 9606.ENSP00000319651.

PTM databases

PhosphoSitei Q5VZB9.

Polymorphism databases

DMDMi 74747785.

Proteomic databases

PaxDbi Q5VZB9.
PRIDEi Q5VZB9.

Protocols and materials databases

DNASUi 63951.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325870 ; ENSP00000319651 ; ENSG00000176399 .
GeneIDi 63951.
KEGGi hsa:63951.
UCSCi uc003zpp.1. human.

Organism-specific databases

CTDi 63951.
GeneCardsi GC09P022436.
H-InvDB HIX0007957.
HGNCi HGNC:13826. DMRTA1.
HPAi HPA044764.
MIMi 614803. gene.
neXtProti NX_Q5VZB9.
PharmGKBi PA27384.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG150784.
HOGENOMi HOG000231615.
HOVERGENi HBG058695.
InParanoidi Q5VZB9.
OMAi CGYPRTP.
OrthoDBi EOG7TXKGH.
PhylomeDBi Q5VZB9.
TreeFami TF317837.

Miscellaneous databases

GenomeRNAii 63951.
NextBioi 65744.
PROi Q5VZB9.
SOURCEi Search...

Gene expression databases

Bgeei Q5VZB9.
CleanExi HS_DMRTA1.
Genevestigatori Q5VZB9.

Family and domain databases

Gene3Di 4.10.1040.10. 1 hit.
InterProi IPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view ]
PANTHERi PTHR12322. PTHR12322. 1 hit.
Pfami PF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view ]
SMARTi SM00301. DM. 1 hit.
[Graphical view ]
SUPFAMi SSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEi PS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 81 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

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