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C1orf50 chromosome 1 open reading frame 50 [ Homo sapiens (human) ]

Gene ID: 79078, updated on 5-Mar-2024

Summary

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Official Symbol
C1orf50provided by HGNC
Official Full Name
chromosome 1 open reading frame 50provided by HGNC
Primary source
HGNC:HGNC:28795
See related
Ensembl:ENSG00000164008 AllianceGenome:HGNC:28795
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
Enables identical protein binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 7.1), kidney (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p34.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42767249..42779491)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42637739..42649982)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43232920..43245162)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43207264-43207866 Neighboring gene claudin 19 Neighboring gene MPRA-validated peak195 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43216651-43217315 Neighboring gene prolyl 3-hydroxylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 768 Neighboring gene TMEM269 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43250662-43251403 Neighboring gene uncharacterized LOC107984946 Neighboring gene transmembrane protein 269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 771 Neighboring gene small vasohibin binding protein Neighboring gene erythroblast membrane associated protein (Scianna blood group)

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. Interactome profiling reveals interaction of SARS-CoV-2 NSP13 with host factor STAT1 to suppress interferon signaling. Feng K, et al. J Mol Cell Biol, 2021 Dec 30. PMID 34687317, Free PMC Article
  2. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. Gordon DE, et al. Nature, 2020 Jul. PMID 32353859, Free PMC Article
  3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
  4. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
  5. Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma. Mahlokozera T, et al. Nat Commun, 2021 Nov 3. PMID 34732716, Free PMC Article

See all (22) citations in PubMed

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

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

  • MGC955

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
uncharacterized protein C1orf50

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_024097.4 → NP_077002.2  uncharacterized protein C1orf50

    See identical proteins and their annotated locations for NP_077002.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding variant.
    Source sequence(s)
    AA741374, AC098484, BC001508, CN256666, DA684965
    Consensus CDS
    CCDS473.1
    UniProtKB/Swiss-Prot
    Q9BV19
    Related
    ENSP00000361603.4, ENST00000372525.7
    Conserved Domains (1) summary
    pfam10504
    Location:31 → 182
    DUF2452; Protein of unknown function (DUF2452)

RNA

  1. NR_040733.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a coding exon compared to variant 1, that causes a frameshift. This variant is not likely to be protein-coding.
    Source sequence(s)
    AA741374, AC098484, BC001508, BM702424, CN256666, DA684965

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
    42767249..42779491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    42637739..42649982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BV19.2 GenPept UniProtKB/Swiss-Prot:Q9BV19

Gene LinkOut

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

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