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Q5VZB9

- DMRTA_HUMAN

UniProt

Q5VZB9 - DMRTA_HUMAN

Protein

Doublesex- and mab-3-related transcription factor A1

Gene

DMRTA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 1 (07 Dec 2004)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi97 – 14448DMPROSITE-ProRule annotationAdd
    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

    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 PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    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

    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:
    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

    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: October 1, 2014
    This is version 82 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