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C1orf141 chromosome 1 open reading frame 141 [ Homo sapiens (human) ]

Gene ID: 400757, updated on 21-Dec-2019

Summary

Official Symbol
C1orf141provided by HGNC
Official Full Name
chromosome 1 open reading frame 141provided by HGNC
Primary source
HGNC:HGNC:32044
See related
Ensembl:ENSG00000203963
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 4.7) See more
Orthologs

Genomic context

See C1orf141 in Genome Data Viewer
Location:
1p31.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (67092165..67141646, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67557859..67600654, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MIER1 transcriptional regulator Neighboring gene solute carrier family 35 member D1 Neighboring gene interleukin 23 receptor Neighboring gene RNA, U6 small nuclear 586, pseudogene Neighboring gene RNA, U4atac small nuclear 4, pseudogene

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 Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
NHGRI GWA Catalog
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
NHGRI GWA Catalog
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy.
NHGRI GWA Catalog

General protein information

Preferred Names
uncharacterized protein C1orf141

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_001276351.2NP_001263280.1  uncharacterized protein C1orf141 isoform 1

    See identical proteins and their annotated locations for NP_001263280.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL133320, BC090886, BG772061
    Consensus CDS
    CCDS30745.1
    UniProtKB/Swiss-Prot
    Q5JVX7
    Related
    ENSP00000360046.1, ENST00000371007.6
    Conserved Domains (1) summary
    pfam15078
    Location:1391
    DUF4545; Domain of unknown function (DUF4545)
  2. NM_001276352.2NP_001263281.1  uncharacterized protein C1orf141 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains two alternate in-frame exons but lacks another alternate coding exon in the 3' end, that causes a frameshift. The resulting isoform (2) contains an alternate internal segment but has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL133320, BC062728, BG772061
    Consensus CDS
    CCDS72804.1
    UniProtKB/TrEMBL
    F2Z2X7
    Related
    ENSP00000432856.2, ENST00000475209.6
    Conserved Domains (1) summary
    pfam15078
    Location:1184
    DUF4545; Domain of unknown function (DUF4545)

RNA

  1. NR_075077.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains three alternate internal exons and lacks an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL133320, BC062728, BG772061

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    67092165..67141646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541466.2XP_011539768.1  uncharacterized protein C1orf141 isoform X1

    See identical proteins and their annotated locations for XP_011539768.1

    Conserved Domains (1) summary
    pfam15078
    Location:1462
    DUF4545; Domain of unknown function (DUF4545)
  2. XM_011541465.2XP_011539767.1  uncharacterized protein C1orf141 isoform X1

    See identical proteins and their annotated locations for XP_011539767.1

    Conserved Domains (1) summary
    pfam15078
    Location:1462
    DUF4545; Domain of unknown function (DUF4545)
  3. XM_017001276.1XP_016856765.1  uncharacterized protein C1orf141 isoform X1

    Conserved Domains (1) summary
    pfam15078
    Location:1462
    DUF4545; Domain of unknown function (DUF4545)
  4. XM_011541467.1XP_011539769.1  uncharacterized protein C1orf141 isoform X2

    Conserved Domains (1) summary
    pfam15078
    Location:1449
    DUF4545; Domain of unknown function (DUF4545)
  5. XM_011541469.1XP_011539771.1  uncharacterized protein C1orf141 isoform X3

    Conserved Domains (1) summary
    pfam15078
    Location:1324
    DUF4545; Domain of unknown function (DUF4545)
  6. XM_011541473.2XP_011539775.1  uncharacterized protein C1orf141 isoform X6

    Conserved Domains (1) summary
    pfam15078
    Location:1123
    DUF4545; Domain of unknown function (DUF4545)
  7. XM_017001277.1XP_016856766.1  uncharacterized protein C1orf141 isoform X4

    Related
    ENSP00000415519.2, ENST00000448166.6
    Conserved Domains (1) summary
    pfam15078
    Location:1233
    DUF4545; Domain of unknown function (DUF4545)
  8. XM_011541472.1XP_011539774.1  uncharacterized protein C1orf141 isoform X5

    Conserved Domains (1) summary
    pfam15078
    Location:1145
    DUF4545; Domain of unknown function (DUF4545)
  9. XM_011541475.1XP_011539777.1  uncharacterized protein C1orf141 isoform X7

    Conserved Domains (1) summary
    pfam15078
    Location:1138
    DUF4545; Domain of unknown function (DUF4545)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001013674.1: Suppressed sequence

    Description
    NM_001013674.1: This RefSeq was permanently suppressed because currently there is insufficient support for the 5' UTR of this transcript.
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