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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DMRTA1 Gene

protein-coding GIFtS: 47
GCID: GC09P022436

DMRT-like family A1

Explore 1 disease affiliated with
DMRTA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
DMRT-Like Family A1¹ ²
DMO² ³
DMRT4²
Doublesex- And Mab-3-Related Transcription Factor A1²

External Ids:	HGNC: 13826¹	Entrez Gene: 63951²	Ensembl: ENSG00000176399⁷	OMIM: 614803⁵	UniProtKB: Q5VZB9³

Export aliases for DMRTA1 gene to outside databases

Previous GC identifers: GC09P022774 GC09P022647

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DMRTA1 gene promoter:
AhR NF-1 Sp1 AP-4 POU6F1 (c2) Arnt C/EBPalpha CHOP-10 Pax-4a RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DMRTA1 promoter sequence

Search SABiosciences Chromatin IP Primers for DMRTA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMRTA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21.3 Ensembl cytogenetic band: 9p21.3 HGNC cytogenetic band: 9p21.3

DMRTA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRTA1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P022436: view genomic region (about GC identifiers)

Start:	22,446,840 bp from pter	End:	22,452,472 bp from pter
Size:	5,633 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DMRTA_HUMAN, Q5VZB9 (See protein sequence)

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

Size: 504 amino acids; 53125 Da

Subcellular location: Nucleus (Potential)

Secondary accessions: A1L481 Q8N8Y9 Q9H4B9

Explore the universe of human proteins at neXtProt for DMRTA1: NX_Q5VZB9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5VZB9

DMRTA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_071443.2

ENSEMBL proteins:

ENSP00000319651

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	Uscn Proteins for DMRTA1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

DMRTA1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DMRTA1 for domains About GeneDecksing

4 InterPro domains/families:

IPR005173 DMA

IPR026607 DMRT/dsx/mab-3

IPR001275 DM_DNA-bd

IPR009060 UBA-like

Graphical View of Domain Structure for InterPro Entry Q5VZB9

ProtoNet protein and cluster: Q5VZB9

1 Blocks protein family: IPB001275 DM DNA-binding

UniProtKB/Swiss-Prot: DMRTA_HUMAN, Q5VZB9

Similarity: Belongs to the DMRT family

Similarity: Contains 1 DM DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTA1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0043565	sequence-specific DNA binding	IEA	--
GO:0046872	metal ion binding	IEA	--

DMRTA1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for DMRTA1:

Increased cell number in S and

Animal Models:
Mouse knock-out Dmrta1^tm1.1Zark for DMRTA1
6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Dmrta1):

behavior/neurological	endocrine/exocrine gland	no phenotypic analysis	reproductive system	skeleton
taste/olfaction

DMRTA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DMRTA1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for DMRTA1 (ENSP00000319651⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ORC5	ENSP00000297431⁴	STRING: ENSP00000297431
STAT5B	ENSP00000293328⁴	STRING: ENSP00000293328

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0007548	sex differentiation	IEA	--
GO:0030154	cell differentiation	--	--

DMRTA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DMRTA1
Search CenterWatch for drugs/clinical trials and news about DMRTA1 / DMRTA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DMRTA1 gene:

NM_022160.2

Unigene Cluster for DMRTA1:

DMRT-like family A1

Hs.371976 [show with all ESTs]

Unigene Representative Sequence: NM_022160

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000325870(uc003zpp.1)

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Additional cDNA sequence:

AJ290954.1 AK096011.1 AK130018.1 BC130435.1 BC130437.1

2 DOTS entries:

DT.75190734 DT.101967104

10 AceView cDNA sequences:

AJ290954 AI017682 AW771629 AW771612 AK096011 AK130018 BG565407 NM_022160

BI769349 AI915415

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DMRTA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACGTGCACA

About this image

DMRTA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Foregut

Foregut Endoderm Cells

Endoderm

Bone

Zeugopod Growth Plate

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DMRTA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DMRTA1

SOURCE GeneReport for Unigene cluster: Hs.371976

UniProtKB/Swiss-Prot: DMRTA_HUMAN, Q5VZB9

Tissue specificity: Expressed in liver, kidney, pancreas, prostate and weakly detected in testis and ovary

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DMRTA1 gene from 3/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	DMRTA1⁶	--	43(a)	1 ↔ 1	2(61204738-61210068)
fruit fly (Drosophila melanogaster)	Insecta	dmrt99B⁶	doublesex-Mab related 99B	22(a)	1 → many	3R(25518313-25522747)
worm (Caenorhabditis elegans)	Secernentea	dmd-5⁶	DM (Doublesex/MAB-3) Domain family member (dmd-5)	26(a)	1 → many	II(5772045-5774200)

ENSEMBL Gene Tree for DMRTA1 (if available)
TreeFam Gene Tree for DMRTA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DMRTA1 gene

DMRT2² DMRT3² DMRTA2² DMRT1² DMRTB1²

2 SIMAP similar genes for DMRTA1 using alignment to 1 protein entry: DMRTA_HUMAN:

DMRT2 DMRTA2

DMRTA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140979069^1,2		--	22444955(+)	`TAACCA/CTATGA`	1	--	us2k¹		0	--	--	--	--
rs186031632^1,2		--	22445074(+)	`AGACAA/GTGTTT`	1	--	us2k¹		0	--	--	--	--
rs190443721^1,2		--	22445091(+)	`CCTCAA/GTTTTT`	1	--	us2k¹		0	--	--	--	--
rs78219171^1,2	C,F,	--	22445111(+)	`ATGCAT/CTATCT`	1	--	us2k¹		1		EA	120
rs144938684^1,2		--	22445119(+)	`TCTGCA/CTAATT`	1	--	us2k¹		0	--	--	--	--
rs182160518^1,2		--	22445423(+)	`GCTTTA/CTCGTT`	1	--	us2k¹		0	--	--	--	--
rs186051325^1,2		--	22445465(+)	`AGAACC/TAAAAA`	1	--	us2k¹		0	--	--	--	--
rs75279729^1,2	C,	--	22445528(+)	`TAGGCA/GGGAGT`	1	--	us2k¹		0	--	--	--	--
rs150110035^1,2		--	22445590(+)	`CCAGAA/GGTTAG`	1	--	us2k¹		0	--	--	--	--
rs639841^1,2	C,F,A,H,	--	22445662(-)	`CTTTTG/TGTCTG`	1	--	us2k¹		21		NS EA WA NA CSA	2347

HapMap Linkage Disequilibrium report for DMRTA1 (22446840 - 22452472 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DMRTA1: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DMRTA1 for disorders           About GeneDecksing

OMIM gene information: 614803    OMIM disorders: --

1 disease for DMRTA1:    About MalaCards

prostatitis

1 disease from the University of Copenhagen DISEASES database for DMRTA1:

Metabolic acidosis

Export disorders for DMRTA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DMRTA1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DMRTA1)

Utopia: connect your pdf to the dynamic
world of online information

DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. (PubMed id 11863363)^{1, 2} Ottolenghi C.... McElreavey K. (2002)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 63951	HGNC: 13826	AceView: DMRTA1	Ensembl:ENSG00000176399	euGenes: HUgn63951
ECgene: DMRTA1	H-InvDB: DMRTA1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DMRTA1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DMRTA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DMRTA1 gene:
Search GeneIP for patents involving DMRTA1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMRTA1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMRTA1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMRTA1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMRTA1

	GenScript Custom Purified and Recombinant Proteins Services for DMRTA1		GenScript cDNA clones with any tag delivered in your preferred vector for DMRTA1
	GenScript Custom Assay Services for DMRTA1		GenScript Custom Superior Antibodies Services for DMRTA1
	GenScript Custom overexpressing Cell Line Services for DMRTA1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTA1

	SwitchGear 3'UTR luciferase reporter plasmids for DMRTA1
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ThermoFisher Antibodies for DMRTA1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRTA1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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DMRTA1 Gene

DMRT-like family A1

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DMRTA1 Gene

DMRT-like family A1

Aliasesfor DMRTA1 gene

Summariesfor DMRTA1 gene

Genomic Viewsfor DMRTA1 gene

Proteinsfor DMRTA1 gene

Protein Domains /Familiesfor DMRTA1 gene

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for DMRTA1 gene

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for DMRTA1 gene

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for DMRTA1 gene

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for DMRTA1 gene

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for DMRTA1 gene

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