Aliases for DMRTB1 Gene

Aliases for DMRTB1 Gene

  • DMRT Like Family B With Proline Rich C-Terminal 1 2 3 5
  • Doublesex- And Mab-3-Related Transcription Factor B1 3 4
  • DMRT-Like Family B With Proline-Rich C-Terminal, 1 2
  • DMRTB1 5

External Ids for DMRTB1 Gene

Previous GeneCards Identifiers for DMRTB1 Gene

  • GC01P053572
  • GC01P052814
  • GC01P053283
  • GC01P053294
  • GC01P053637
  • GC01P053697
  • GC01P053925
  • GC01P052040

Summaries for DMRTB1 Gene

GeneCards Summary for DMRTB1 Gene

DMRTB1 (DMRT Like Family B With Proline Rich C-Terminal 1) is a Protein Coding gene. Diseases associated with DMRTB1 include Spastic Paraplegia 24, Autosomal Recessive and Hypoplastic Right Heart Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is DMRTA2.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DMRTB1 Gene

Genomics for DMRTB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DMRTB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J053429 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 265.4 -28.0 -27996 3.6 SIN3A YY1 NRF1 CTCF SP1 POU5F1 ZSCAN4 NANOG RAD21 SCRT2 DMRTB1 HSALNG0003702 LRP8 LOC100507564 MAGOH LINC01771 RNU7-95P SLC25A3P1 piR-30444-004 lnc-GLIS1-2
GH01J053459 Promoter 0.3 EPDnew 250.7 0.0 -19 0.1 DMRTB1 piR-47084-001 LRP8
GH01J053485 Enhancer 0.9 Ensembl ENCODE 11.8 +26.5 26480 1.1 MYC ZNF654 REST TRIM22 BHLHE40 ZNF639 CTCF RAD21 SMC3 ZBTB48 HSALNG0003706 DMRTB1 RNU7-95P HSALNG0003713 GLIS1
GH01J053447 Enhancer 0.9 Ensembl ENCODE dbSUPER 9.1 -10.4 -10398 3.2 CTCF SIN3A PKNOX1 FOXM1 SCRT1 BHLHE40 POU5F1 RAD21 NANOG SMC3 piR-47084-001 RNU7-95P DMRTB1 ENSG00000288527 lnc-DMRTB1-1 LRP8
GH01J053502 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.3 +43.9 43872 2.3 ZSCAN16 ZNF341 KLF7 KLF9 SP2 KLF16 ZSCAN5A ZBTB48 ZSCAN23 CBLL2 MAGOH GPX7 LRRC42 NDC1 DMRTB1 SLC25A3P1 HSALNG0003706 HSALNG0003713 GLIS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMRTB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DMRTB1

Top Transcription factor binding sites by QIAGEN in the DMRTB1 gene promoter:
  • Chx10
  • HNF-1
  • HNF-1A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • p53
  • Pax-4a

Genomic Locations for DMRTB1 Gene

Latest Assembly
chr1:53,459,399-53,467,488
(GRCh38/hg38)
Size:
8,090 bases
Orientation:
Plus strand

Previous Assembly
chr1:53,925,072-53,933,161
(GRCh37/hg19 by Entrez Gene)
Size:
8,090 bases
Orientation:
Plus strand

chr1:53,925,072-53,933,161
(GRCh37/hg19 by Ensembl)
Size:
8,090 bases
Orientation:
Plus strand

Genomic View for DMRTB1 Gene

Genes around DMRTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMRTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMRTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMRTB1 Gene

Proteins for DMRTB1 Gene

  • Protein details for DMRTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MA1-DMRTB_HUMAN
    Recommended name:
    Doublesex- and mab-3-related transcription factor B1
    Protein Accession:
    Q96MA1
    Secondary Accessions:
    • Q96SD2

    Protein attributes for DMRTB1 Gene

    Size:
    342 amino acids
    Molecular mass:
    36205 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DMRTB1 Gene

Post-translational modifications for DMRTB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMRTB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMRTB1 Gene

Domains & Families for DMRTB1 Gene

Gene Families for DMRTB1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for DMRTB1 Gene

InterPro:
Blocks:
  • DM DNA-binding

Suggested Antigen Peptide Sequences for DMRTB1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54197, highly similar to Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA (B4DXR0_HUMAN)
  • Doublesex- and mab-3-related transcription factor B1 (DMRTB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MA1

UniProtKB/Swiss-Prot:

DMRTB_HUMAN :
  • Belongs to the DMRT family.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRTB1: view

Function for DMRTB1 Gene

Phenotypes From GWAS Catalog for DMRTB1 Gene

Gene Ontology (GO) - Molecular Function for DMRTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with DMRTB1: view
genes like me logo Genes that share phenotypes with DMRTB1: view

Animal Models for DMRTB1 Gene

MGI Knock Outs for DMRTB1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMRTB1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMRTB1 Gene

Localization for DMRTB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMRTB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMRTB1 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 1

Gene Ontology (GO) - Cellular Components for DMRTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with DMRTB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMRTB1 Gene

Pathways & Interactions for DMRTB1 Gene

PathCards logo

SuperPathways for DMRTB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMRTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007281 germ cell development IBA 21873635
GO:0007548 sex differentiation IBA 21873635
genes like me logo Genes that share ontologies with DMRTB1: view

No data available for Pathways by source and SIGNOR curated interactions for DMRTB1 Gene

Drugs & Compounds for DMRTB1 Gene

No Compound Related Data Available

Transcripts for DMRTB1 Gene

mRNA/cDNA for DMRTB1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMRTB1

Alternative Splicing Database (ASD) splice patterns (SP) for DMRTB1 Gene

No ASD Table

Relevant External Links for DMRTB1 Gene

GeneLoc Exon Structure for
DMRTB1

Expression for DMRTB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMRTB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMRTB1 Gene

This gene is overexpressed in Testis (x52.5).

Protein differential expression in normal tissues from HIPED for DMRTB1 Gene

This gene is overexpressed in Testis (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMRTB1 Gene



Protein tissue co-expression partners for DMRTB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DMRTB1

SOURCE GeneReport for Unigene cluster for DMRTB1 Gene:

Hs.131654

mRNA Expression by UniProt/SwissProt for DMRTB1 Gene:

Q96MA1-DMRTB_HUMAN
Tissue specificity: Testis.
genes like me logo Genes that share expression patterns with DMRTB1: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMRTB1 Gene

Orthologs for DMRTB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMRTB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DMRTB1 29 30
  • 94.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DMRTB1 29 30
  • 80.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DMRTB1 29 30
  • 76.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dmrtb1 29
  • 69.09 (n)
Mouse
(Mus musculus)
Mammalia Dmrtb1 29 16 30
  • 68.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DMRT1 30
  • 61 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia DMRTB1 30
  • 39 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DMRTB1 30
  • 40 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DMRTB1 30
  • 34 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dmrt2b 30
  • 16 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta dsx 30
  • 14 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mab-3 30
  • 15 (a)
ManyToMany
Species where no ortholog for DMRTB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for DMRTB1 Gene

ENSEMBL:
Gene Tree for DMRTB1 (if available)
TreeFam:
Gene Tree for DMRTB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMRTB1: view image
Alliance of Genome Resources:
Additional Orthologs for DMRTB1

Paralogs for DMRTB1 Gene

Paralogs for DMRTB1 Gene

genes like me logo Genes that share paralogs with DMRTB1: view

Variants for DMRTB1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DMRTB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DMRTB1 Gene

Variant ID Type Subtype PubMed ID
esv2758936 CNV loss 17122850
nsv428443 CNV gain 18775914
nsv509269 CNV insertion 20534489
nsv829882 CNV loss 17160897
nsv877 CNV insertion 18451855

Variation tolerance for DMRTB1 Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMRTB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMRTB1
Leiden Open Variation Database (LOVD)
DMRTB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DMRTB1 Gene

Disorders for DMRTB1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DMRTB1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DMRTB1

genes like me logo Genes that share disorders with DMRTB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMRTB1 Gene

Publications for DMRTB1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. (PMID: 11863363) Ottolenghi C … McElreavey K (Genomics 2002) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Immunolocalization of DMRTB1 in human testis with normal and impaired spermatogenesis. (PMID: 30920770) Hilbold E … Brehm R (Andrology 2019) 3
  5. rec-YnH enables simultaneous many-by-many detection of direct protein-protein and protein-RNA interactions. (PMID: 30217970) Yang JS … Maurer SP (Nature communications 2018) 3

Products for DMRTB1 Gene

Sources for DMRTB1 Gene