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

    Gene ID: 400757, updated on 10-Oct-2024

    Summary

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    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 AllianceGenome:HGNC:32044
    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
    mouse all
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    Genomic context

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    See C1orf141 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (67092165..67141646, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (66969681..67019158, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67557848..67600653, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal intermediate chain 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 974 Neighboring gene MIER1 transcriptional regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 975 Neighboring gene MPRA-validated peak274 silencer Neighboring gene MPRA-validated peak275 silencer Neighboring gene solute carrier family 35 member D1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:67486227-67487025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 978 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:67562817-67563435 Neighboring gene small nucleolar RNA SNORA31 Neighboring gene NANOG hESC enhancer GRCh37_chr1:67602886-67603396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1169 Neighboring gene interleukin 23 receptor Neighboring gene RNA, U6 small nuclear 586, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1172 Neighboring gene RNA, U4atac small nuclear 4, pseudogene

    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. Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. Raelson JV, et al. Proc Natl Acad Sci U S A, 2007 Sep 11. PMID 17804789, Free PMC Article
    2. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Zhang F, et al. Nat Genet, 2011 Oct 23. PMID 22019778
    3. Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. Hou S, et al. Nat Genet, 2014 Sep. PMID 25108386
    4. Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. Liu H, et al. Nat Genet, 2015 Mar. PMID 25642632
    5. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Homology

    Clone Names

    • MGC48454

    General protein information

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    Preferred Names
    uncharacterized protein C1orf141

    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_001276351.2 → NP_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
      Q0P5P5, Q5JVX5, Q5JVX7
      Related
      ENSP00000507487.1, ENST00000684719.1
      Conserved Domains (1) summary
      pfam15078
      Location:1 → 391
      DUF4545; Domain of unknown function (DUF4545)

    2. NM_001276352.2 → NP_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, S4R3Z8
      Related
      ENSP00000432856.2, ENST00000475209.6
      Conserved Domains (1) summary
      pfam15078
      Location:1 → 212
      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: 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
      67092165..67141646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541466.3 → XP_011539768.1  uncharacterized protein C1orf141 isoform X1

      See identical proteins and their annotated locations for XP_011539768.1

      Conserved Domains (1) summary
      pfam15078
      Location:1 → 462
      DUF4545; Domain of unknown function (DUF4545)

    2. XM_011541465.3 → XP_011539767.1  uncharacterized protein C1orf141 isoform X1

      See identical proteins and their annotated locations for XP_011539767.1

      Conserved Domains (1) summary
      pfam15078
      Location:1 → 462
      DUF4545; Domain of unknown function (DUF4545)

    3. XM_011541467.2 → XP_011539769.1  uncharacterized protein C1orf141 isoform X2

      Conserved Domains (1) summary
      pfam15078
      Location:1 → 449
      DUF4545; Domain of unknown function (DUF4545)

    4. XM_017001276.2 → XP_016856765.1  uncharacterized protein C1orf141 isoform X1

      Conserved Domains (1) summary
      pfam15078
      Location:1 → 462
      DUF4545; Domain of unknown function (DUF4545)

    5. XM_011541469.2 → XP_011539771.1  uncharacterized protein C1orf141 isoform X3

      Conserved Domains (1) summary
      pfam15078
      Location:1 → 324
      DUF4545; Domain of unknown function (DUF4545)

    6. XM_047420474.1 → XP_047276430.1  uncharacterized protein C1orf141 isoform X4

    7. XM_011541475.2 → XP_011539777.1  uncharacterized protein C1orf141 isoform X6

      UniProtKB/TrEMBL
      A0A0A0MTM1
      Conserved Domains (1) summary
      pfam15078
      Location:1 → 138
      DUF4545; Domain of unknown function (DUF4545)

    8. XM_047420478.1 → XP_047276434.1  uncharacterized protein C1orf141 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      66969681..67019158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336576.1 → XP_054192551.1  uncharacterized protein C1orf141 isoform X1

    2. XM_054336577.1 → XP_054192552.1  uncharacterized protein C1orf141 isoform X1

    3. XM_054336578.1 → XP_054192553.1  uncharacterized protein C1orf141 isoform X2

    4. XM_054336575.1 → XP_054192550.1  uncharacterized protein C1orf141 isoform X1

    5. XM_054336579.1 → XP_054192554.1  uncharacterized protein C1orf141 isoform X3

    6. XM_054336580.1 → XP_054192555.1  uncharacterized protein C1orf141 isoform X4

    7. XM_054336582.1 → XP_054192557.1  uncharacterized protein C1orf141 isoform X6

    8. XM_054336581.1 → XP_054192556.1  uncharacterized protein C1orf141 isoform X5

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JVX7.1 GenPept UniProtKB/Swiss-Prot:Q5JVX7

    Gene LinkOut

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