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    C1orf185 chromosome 1 open reading frame 185 [ Homo sapiens (human) ]

    Gene ID: 284546, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C1orf185provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 185provided by HGNC
    Primary source
    HGNC:HGNC:28096
    See related
    Ensembl:ENSG00000204006 AllianceGenome:HGNC:28096
    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 located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 7.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf185 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51102228..51152282)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (50982117..51032181)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51567900..51613758)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:51537346-51537846 Neighboring gene microRNA 4421 Neighboring gene microRNA 6500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:51537847-51538347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1018 Neighboring gene cofilin 1 pseudogene 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:51651165-51651666 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:51651667-51652166 Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene long intergenic non-protein coding RNA 1562

    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. Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B. Cazin C, et al. Cells, 2021 Dec 30. PMID 35011680, Free PMC Article
    2. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Sotoodehnia N, et al. Nat Genet, 2010 Dec. PMID 21076409, Free PMC Article
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • FLJ27485

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    uncharacterized protein C1orf185

    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_001136508.2 → NP_001129980.1  uncharacterized protein C1orf185 isoform 1

      See identical proteins and their annotated locations for NP_001129980.1

      Status: VALIDATED

      Source sequence(s)
      AK130995, AL162430
      Consensus CDS
      CCDS44142.1
      UniProtKB/Swiss-Prot
      A6NHS3, Q5T7R7
      Related
      ENSP00000360824.2, ENST00000371759.7
      Conserved Domains (1) summary
      pfam15842
      Location:7 → 189
      DUF4718; Domain of unknown function (DUF4718)

    2. NM_001410790.1 → NP_001397719.1  uncharacterized protein C1orf185 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL162430
      Consensus CDS
      CCDS90951.1
      UniProtKB/TrEMBL
      A0A3B3ISR6
      Related
      ENSP00000497349.1, ENST00000648827.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      51102228..51152282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446525.2 → XP_024302293.2  uncharacterized protein C1orf185 isoform X2

    2. XM_011541282.3 → XP_011539584.1  uncharacterized protein C1orf185 isoform X1

      Conserved Domains (1) summary
      pfam15842
      Location:3 → 185
      DUF4718; Domain of unknown function (DUF4718)

    3. XM_024446528.2 → XP_024302296.2  uncharacterized protein C1orf185 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      50982117..51032181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336127.1 → XP_054192102.1  uncharacterized protein C1orf185 isoform X2

    2. XM_054336128.1 → XP_054192103.1  uncharacterized protein C1orf185 isoform X3

    3. XM_054336126.1 → XP_054192101.1  uncharacterized protein C1orf185 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T7R7.1 GenPept UniProtKB/Swiss-Prot:Q5T7R7

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