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    CHCT1 CHD1 helical C-terminal domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 124773, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CHCT1provided by HGNC
    Official Full Name
    CHD1 helical C-terminal domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26990
    See related
    Ensembl:ENSG00000141371 AllianceGenome:HGNC:26990
    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
    Also known as
    C17orf64
    Summary
    Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 29.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See CHCT1 in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60421214..60431426)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61290151..61300355)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58499850..58508787)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 32 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:58402707-58402860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58405017-58405863 Neighboring gene H3 histone pseudogene 42 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58462897-58463708 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58469209-58470050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12530 Neighboring gene uncharacterized LOC105371850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8793 Neighboring gene ribosomal protein L12 pseudogene 38 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 42

    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. Expression profile analysis of a new testis-specifically expressed gene C17ORF64 and its association with cell apoptosis in MCF-7 cells. Dai Y, et al. Mol Biol Rep, 2021 Feb. PMID 33566224
    2. The Chromatin Remodelling Protein CHD1 Contains a Previously Unrecognised C-Terminal Helical Domain. Mohanty B, et al. J Mol Biol, 2016 Oct 23. PMID 27591891
    3. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. Li X, et al. Mol Cell Proteomics, 2016 Sep. PMID 27432908, Free PMC Article
    4. 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression profile analysis of a new testis-specifically expressed gene C17ORF64 and its association with cell apoptosis in MCF-7 cells.
      Title: Expression profile analysis of a new testis-specifically expressed gene C17ORF64 and its association with cell apoptosis in MCF-7 cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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

    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CHD1 helical C-terminal domain containing protein 1
    Names
    uncharacterized protein C17orf64

    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_181707.3 → NP_859058.2  CHD1 helical C-terminal domain containing protein 1

      See identical proteins and their annotated locations for NP_859058.2

      Status: VALIDATED

      Source sequence(s)
      AC037475, BC036356, CD742737, DB448877
      Consensus CDS
      CCDS32698.2
      UniProtKB/Swiss-Prot
      Q86WR6, Q8IY87
      Related
      ENSP00000269127.4, ENST00000269127.5
      Conserved Domains (1) summary
      pfam13907
      Location:52 → 132
      DUF4208; Domain of unknown function (DUF4208)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      60421214..60431426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257033.6 → XP_005257090.1  CHD1 helical C-terminal domain containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam13907
      Location:85 → 165
      DUF4208; Domain of unknown function (DUF4208)

    2. XM_005257034.6 → XP_005257091.1  CHD1 helical C-terminal domain containing protein 1 isoform X2

      Conserved Domains (1) summary
      pfam13907
      Location:85 → 165
      DUF4208; Domain of unknown function (DUF4208)

    3. XM_005257035.5 → XP_005257092.1  CHD1 helical C-terminal domain containing protein 1 isoform X4

      Conserved Domains (1) summary
      pfam13907
      Location:15 → 95
      DUF4208; Domain of unknown function (DUF4208)

    4. XM_017024166.3 → XP_016879655.1  CHD1 helical C-terminal domain containing protein 1 isoform X5

      Conserved Domains (1) summary
      pfam13907
      Location:15 → 95
      DUF4208; Domain of unknown function (DUF4208)

    5. XM_005257036.3 → XP_005257093.1  CHD1 helical C-terminal domain containing protein 1 isoform X3

      Conserved Domains (1) summary
      pfam13907
      Location:52 → 132
      DUF4208; Domain of unknown function (DUF4208)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      61290151..61300355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315010.1 → XP_054170985.1  CHD1 helical C-terminal domain containing protein 1 isoform X1

    2. XM_054315011.1 → XP_054170986.1  CHD1 helical C-terminal domain containing protein 1 isoform X2

    3. XM_054315014.1 → XP_054170989.1  CHD1 helical C-terminal domain containing protein 1 isoform X5

    4. XM_054315013.1 → XP_054170988.1  CHD1 helical C-terminal domain containing protein 1 isoform X4

    5. XM_054315012.1 → XP_054170987.1  CHD1 helical C-terminal domain containing protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WR6.2 GenPept UniProtKB/Swiss-Prot:Q86WR6

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