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Q5VZB9 (DMRTA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Doublesex- and mab-3-related transcription factor A1
Gene names
Name:DMRTA1
Synonyms:DMO
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length504 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus Potential.

Tissue specificity

Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary. Ref.4

Sequence similarities

Belongs to the DMRT family.

Contains 1 DM DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 504504Doublesex- and mab-3-related transcription factor A1
PRO_0000242700

Regions

DNA binding97 – 14448DM

Natural variations

Natural variant3421R → C in a colorectal cancer sample; somatic mutation. Ref.5
VAR_036331

Experimental info

Sequence conflict2121V → F in BAC04672. Ref.1
Sequence conflict3141A → S in BAC04672. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q5VZB9 [UniParc].

Last modified December 7, 2004. Version 1.
Checksum: E482189FB80B6A6E

FASTA50453,125
        10         20         30         40         50         60 
MERSQCGSRD RGVSGRPHLA PGLVVAAPPP PSPALPVPSG MQVPPAFLRP PSLFLRAAAA 

        70         80         90        100        110        120 
AAAAAAATSG SGGCPPAPGL ESGVGAVGCG YPRTPKCARC RNHGVVSALK GHKRFCRWRD 

       130        140        150        160        170        180 
CACAKCTLIA ERQRVMAAQV ALRRQQAQEE SEARGLQRLL CSGLSWPPGG RASGGGGRAE 

       190        200        210        220        230        240 
NPQSTGGPAA GAALGLGALR QASGSATPAF EVFQQDYPEE KQEQKESKCE SCQNGQEELI 

       250        260        270        280        290        300 
SKSHQLYLGS SSRSNGVIGK QSIGSSISEY SNKPDSILSP HPGEQSGGEE SPRSLSSSDL 

       310        320        330        340        350        360 
ESGNESEWVK DLTATKASLP TVSSRPRDPL DILTKIFPNY RRSRLEGILR FCKGDVVQAI 

       370        380        390        400        410        420 
EQVLNGKEHK PDNRNLANSE ELENTAFQRA SSFSLAGIGF GTLGNKSAFS PLQTTSASYG 

       430        440        450        460        470        480 
GDSSLYGVNP RVGISPLRLA YSSAGRGLSG FMSPYLTPGL VPTLPFRPAL DYAFSGMIRD 

       490        500 
SSYLSSKDSI TCGRLYFRPN QDNP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-342.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_071443.2. NM_022160.2.
UniGeneHs.371976.

3D structure databases

ProteinModelPortalQ5VZB9.
SMRQ5VZB9. Positions 92-139.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122014. 3 interactions.
IntActQ5VZB9. 3 interactions.
STRING9606.ENSP00000319651.

PTM databases

PhosphoSiteQ5VZB9.

Polymorphism databases

DMDM74747785.

Proteomic databases

PaxDbQ5VZB9.
PRIDEQ5VZB9.

Protocols and materials databases

DNASU63951.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325870; ENSP00000319651; ENSG00000176399.
GeneID63951.
KEGGhsa:63951.
UCSCuc003zpp.1. human.

Organism-specific databases

CTD63951.
GeneCardsGC09P022436.
H-InvDBHIX0007957.
HGNCHGNC:13826. DMRTA1.
HPAHPA044764.
MIM614803. gene.
neXtProtNX_Q5VZB9.
PharmGKBPA27384.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG150784.
HOGENOMHOG000231615.
HOVERGENHBG058695.
InParanoidQ5VZB9.
OMACGYPRTP.
OrthoDBEOG7TXKGH.
PhylomeDBQ5VZB9.
TreeFamTF317837.

Gene expression databases

BgeeQ5VZB9.
CleanExHS_DMRTA1.
GenevestigatorQ5VZB9.

Family and domain databases

Gene3D4.10.1040.10. 1 hit.
InterProIPR001275. DM_DNA-bd.
IPR005173. DMA.
IPR026607. DMRT/dsx/mab-3.
IPR009060. UBA-like.
[Graphical view]
PANTHERPTHR12322. PTHR12322. 1 hit.
PfamPF00751. DM. 1 hit.
PF03474. DMA. 1 hit.
[Graphical view]
SMARTSM00301. DM. 1 hit.
[Graphical view]
SUPFAMSSF46934. SSF46934. 1 hit.
SSF82927. SSF82927. 1 hit.
PROSITEPS40000. DM_1. 1 hit.
PS50809. DM_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi63951.
NextBio65744.
PROQ5VZB9.
SOURCESearch...

Entry information

Entry nameDMRTA_HUMAN
AccessionPrimary (citable) accession number: Q5VZB9
Secondary accession number(s): A1L481, Q8N8Y9, Q9H4B9
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: December 7, 2004
Last modified: April 16, 2014
This is version 80 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM