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

    Gene ID: 63947, updated on 2-Nov-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 DNA-templated transcription. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See DMRTC1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (72872025..72943837, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (71305532..71377347, complement)
    RS_2024_09 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 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. Ephrin-As, Eph receptors and integrin α3 interact and colocalise at membrane protrusions of U251MG glioblastoma cells. Makarov A, et al. Cell Biol Int, 2013 Oct. PMID 23686814
    4. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    5. 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

    See all (8) 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
    located_in 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_2024_08

    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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