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

Gene ID: 124773, updated on 5-Mar-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
Expression
Restricted expression toward testis (RPKM 29.9) See more
Orthologs
mouse all
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Genomic context

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Location:
17q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60421214..60431426)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61290151..61300355)
105.20220307 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)

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

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_2023_10

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

Gene LinkOut

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