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DMRTC1 DMRT like family C1 [ Homo sapiens (human) ]

Gene ID: 63947, updated on 5-Mar-2024

Summary

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Official Symbol
DMRTC1provided by HGNC
Official Full Name
DMRT like family C1provided by HGNC
Primary source
HGNC:HGNC:13910
See related
Ensembl:ENSG00000269502 MIM:300878; AllianceGenome:HGNC:13910
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
Summary
Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 5.5), ovary (RPKM 3.3) and 12 other tissues See more
Orthologs
all
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Genomic context

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Location:
Xq13.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (72872025..72943837, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (71305532..71377347, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (72091859..72163676, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene DMRT like family C1B Neighboring gene family with sequence similarity 236 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:72027355-72027855 Neighboring gene family with sequence similarity 236 member D Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:72132634-72133134 Neighboring gene family with sequence similarity 236 member C Neighboring gene family with sequence similarity 236 member A Neighboring gene family with sequence similarity 226 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:72179367-72179868 Neighboring gene PABPC1L2B antisense RNA 1 (head to head) Neighboring gene poly(A) binding protein cytoplasmic 1 like 2B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. Ottolenghi C, et al. Genomics, 2002 Mar. PMID 11863363
  2. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
  3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
doublesex- and mab-3-related transcription factor C1
Names
doublesex-mab-3

NCBI Reference Sequences (RefSeq)

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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_001386923.1 → NP_001373852.1  doublesex- and mab-3-related transcription factor C1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC234776
    Conserved Domains (1) summary
    pfam15791
    Location:46 → 164
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

  2. NM_001386924.1 → NP_001373853.1  doublesex- and mab-3-related transcription factor C1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC234776
    Conserved Domains (1) summary
    pfam15791
    Location:46 → 164
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

  3. NM_033053.3 → NP_149042.2  doublesex- and mab-3-related transcription factor C1 isoform 1

    See identical proteins and their annotated locations for NP_149042.2

    Status: VALIDATED

    Source sequence(s)
    AC234776
    Consensus CDS
    CCDS35333.2
    UniProtKB/Swiss-Prot
    Q5HYR0, Q5HYR2, Q5U5K2, Q8N6L3, Q96SD3
    Related
    ENSP00000484718.2, ENST00000615063.2
    Conserved Domains (1) summary
    pfam15791
    Location:73 → 191
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

RNA

  1. NR_170342.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC234776
    Related
    ENST00000622727.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    72872025..72943837 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    71305532..71377347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5HYR2.1 GenPept UniProtKB/Swiss-Prot:Q5HYR2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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