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

Gene ID: 284546, updated on 31-Mar-2018

Summary

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 Vega:OTTHUMG00000008084
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
Expression
Restricted expression toward testis (RPKM 7.4) See more
Orthologs

Genomic context

See C1orf185 in Genome Data Viewer
Location:
1p32.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (51102188..51152283)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51442129..51613754)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4421 Neighboring gene microRNA 6500 Neighboring gene cofilin 1 pseudogene 2 Neighboring gene mitochondrial import receptor subunit TOM5 homolog pseudogene Neighboring gene long intergenic non-protein coding RNA 1562

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Homology

Clone Names

  • FLJ27485

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
uncharacterized protein C1orf185

NCBI Reference Sequences (RefSeq)

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_001136508.2NP_001129980.1  uncharacterized protein C1orf185

    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
    Q5T7R7
    Related
    ENSP00000360824.2, OTTHUMP00000009757, ENST00000371759.6
    Conserved Domains (1) summary
    pfam15842
    Location:7189
    DUF4718; Domain of unknown function (DUF4718)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    51102188..51152283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam15842
    Location:22113
    DUF4718; Domain of unknown function (DUF4718)
  2. XM_024446528.1XP_024302296.1  uncharacterized protein C1orf185 isoform X3

    Conserved Domains (1) summary
    pfam15842
    Location:22114
    DUF4718; Domain of unknown function (DUF4718)
  3. XM_024446529.1XP_024302297.1  uncharacterized protein C1orf185 isoform X4

    Conserved Domains (1) summary
    pfam15842
    Location:22105
    DUF4718; Domain of unknown function (DUF4718)
  4. XM_011541282.2XP_011539584.1  uncharacterized protein C1orf185 isoform X1

    Conserved Domains (1) summary
    pfam15842
    Location:3185
    DUF4718; Domain of unknown function (DUF4718)
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