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    DMRTC1B DMRT like family C1B [ Homo sapiens (human) ]

    Gene ID: 728656, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DMRTC1Bprovided by HGNC
    Official Full Name
    DMRT like family C1Bprovided by HGNC
    Primary source
    HGNC:HGNC:31686
    See related
    Ensembl:ENSG00000184911 AllianceGenome:HGNC:31686
    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 5.4), ovary (RPKM 3.3) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq13.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (72776890..72848803)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (71210370..71282297)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (71996714..72068637)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:71952237-71952736 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:71952855-71953631 Neighboring gene CAPZA1 pseudogene 3 Neighboring gene RNA, U1 small nuclear 112, pseudogene Neighboring gene family with sequence similarity 226 member B 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 DMRT like family C1 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

    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. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    3. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
    4. 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
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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
    DMRT-like family C1

    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_001080851.2 → NP_001074320.1  doublesex- and mab-3-related transcription factor C1 isoform 1

      See identical proteins and their annotated locations for NP_001074320.1

      Status: VALIDATED

      Source sequence(s)
      AC240504
      Consensus CDS
      CCDS43971.1
      UniProtKB/Swiss-Prot
      Q5HYR0, Q5HYR2, Q5U5K2, Q8N6L3, Q96SD3
      Related
      ENSP00000362632.3, ENST00000373532.7
      Conserved Domains (1) summary
      pfam15791
      Location:73 → 191
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    2. NM_001370147.1 → NP_001357076.1  doublesex- and mab-3-related transcription factor C1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC240504
      Consensus CDS
      CCDS94635.1
      Related
      ENSP00000362633.1, ENST00000373533.5
      Conserved Domains (1) summary
      pfam15791
      Location:41 → 125
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    3. NM_001386972.1 → NP_001373901.1  doublesex- and mab-3-related transcription factor C1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC240504
      Consensus CDS
      CCDS43971.1
      UniProtKB/Swiss-Prot
      Q5HYR0, Q5HYR2, Q5U5K2, Q8N6L3, Q96SD3
      Related
      ENSP00000334501.5, ENST00000334036.10
      Conserved Domains (1) summary
      pfam15791
      Location:73 → 191
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    RNA

    1. NR_170368.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC240504

    2. NR_170369.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC240504

    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
      72776890..72848803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442419.1 → XP_047298375.1  doublesex- and mab-3-related transcription factor C1 isoform X1

      UniProtKB/Swiss-Prot
      Q5HYR0, Q5HYR2, Q5U5K2, Q8N6L3, Q96SD3

    2. XM_017029776.2 → XP_016885265.1  doublesex- and mab-3-related transcription factor C1 isoform X1

      UniProtKB/Swiss-Prot
      Q5HYR0, Q5HYR2, Q5U5K2, Q8N6L3, Q96SD3
      Conserved Domains (1) summary
      pfam15791
      Location:73 → 191
      DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      71210370..71282297
      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.

    Chemical Information
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    Research Materials
    Miscellaneous