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

Gene ID: 284546, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 7.4) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51102228..51152282)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (50982117..51032181)
105.20220307 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
  • 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. 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
  2. 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
  3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  4. 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_2023_10

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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