Q5VZB9 (DMRTA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Doublesex- and mab-3-related transcription factor A1

Gene names

Name:	DMRTA1
Synonyms:	DMO

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	504 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW sex differentiation Inferred from electronic annotation. Source: InterPro transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 504	504	Doublesex- and mab-3-related transcription factor A1		PRO_0000242700
Regions
	DNA binding	97 – 144	48	DM
Natural variations
	Natural variant	342	1	R → C in a colorectal cancer sample; somatic mutation. Ref.5		VAR_036331
Experimental info
	Sequence conflict	212	1	V → F in BAC04672. Ref.1
	Sequence conflict	314	1	A → S in BAC04672. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q5VZB9 [UniParc]. Last modified December 7, 2004. Version 1. Checksum: E482189FB80B6A6E	FASTA	504	53,125
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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.
IPI	IPI00298421.
RefSeq	NP_071443.2. NM_022160.2.
UniGene	Hs.371976.
3D structure databases
ProteinModelPortal	Q5VZB9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5VZB9. 3 interactions.
STRING	9606.ENSP00000319651.
PTM databases
PhosphoSite	Q5VZB9.
Polymorphism databases
DMDM	74747785.
Proteomic databases
PaxDb	Q5VZB9.
PRIDE	Q5VZB9.
Protocols and materials databases
DNASU	63951.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325870; ENSP00000319651; ENSG00000176399.
GeneID	63951.
KEGG	hsa:63951.
UCSC	uc003zpp.1. human.
Organism-specific databases
CTD	63951.
GeneCards	GC09P022436.
H-InvDB	HIX0007957.
HGNC	HGNC:13826. DMRTA1.
HPA	HPA044764.
MIM	614803. gene.
neXtProt	NX_Q5VZB9.
PharmGKB	PA27384.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG150784.
HOGENOM	HOG000231615.
HOVERGEN	HBG058695.
InParanoid	Q5VZB9.
OMA	GRLYFRP.
OrthoDB	EOG43FGXM.
Gene expression databases
Bgee	Q5VZB9.
CleanEx	HS_DMRTA1.
Genevestigator	Q5VZB9.
GermOnline	ENSG00000176399. Homo sapiens.
Family and domain databases
Gene3D	4.10.1040.10. 1 hit.
InterPro	IPR001275. DM_DNA-bd. IPR005173. DMA. IPR026607. DMRT/dsx/mab-3. IPR009060. UBA-like. [Graphical view]
PANTHER	PTHR12322. PTHR12322. 1 hit.
Pfam	PF00751. DM. 1 hit. PF03474. DMA. 1 hit. [Graphical view]
SMART	SM00301. DM. 1 hit. [Graphical view]
SUPFAM	SSF82927. DM_DNA_bd. 1 hit. SSF46934. UBA_like. 1 hit.
PROSITE	PS40000. DM_1. 1 hit. PS50809. DM_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	63951.
NextBio	65744.
SOURCE	Search...

Entry information

Entry name

DMRTA_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 73 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.