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DMRTB1 DMRT like family B with proline rich C-terminal 1 [ Homo sapiens (human) ]

Gene ID: 63948, updated on 22-Aug-2020

Summary

Official Symbol
DMRTB1provided by HGNC
Official Full Name
DMRT like family B with proline rich C-terminal 1provided by HGNC
Primary source
HGNC:HGNC:13913
See related
Ensembl:ENSG00000143006 MIM:614805
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Restricted expression toward testis (RPKM 31.2) See more
Orthologs

Genomic context

See DMRTB1 in Genome Data Viewer
Location:
1p32.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53459399..53467488)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53925072..53933158)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1525 Neighboring gene uncharacterized LOC105378733 Neighboring gene solute carrier family 25 member 3 pseudogene 1 Neighboring gene GLIS family zinc finger 1 Neighboring gene RNA, U7 small nuclear 95 pseudogene Neighboring gene NDC1 transmembrane nucleoporin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
NOT RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
NOT sex differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
doublesex- and mab-3-related transcription factor B1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_033067.3NP_149056.1  doublesex- and mab-3-related transcription factor B1

    See identical proteins and their annotated locations for NP_149056.1

    Status: VALIDATED

    Source sequence(s)
    AK057273, BC029566
    Consensus CDS
    CCDS581.1
    UniProtKB/Swiss-Prot
    Q96MA1
    UniProtKB/TrEMBL
    I6L9A0
    Related
    ENSP00000360500.3, ENST00000371445.3
    Conserved Domains (1) summary
    pfam00751
    Location:753
    DM; DM DNA binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    53459399..53467488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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