U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 400757, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p31.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (67092165..67141646, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (66969681..67019158, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC48454

General protein information

Go to the top of the page Help
Preferred Names
uncharacterized protein C1orf141

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_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
    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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous