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    C1orf174 chromosome 1 open reading frame 174 [ Homo sapiens (human) ]

    Gene ID: 339448, updated on 3-Apr-2024

    Summary

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    Official Symbol
    C1orf174provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 174provided by HGNC
    Primary source
    HGNC:HGNC:27915
    See related
    Ensembl:ENSG00000198912 AllianceGenome:HGNC:27915
    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
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 4.6), appendix (RPKM 4.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p36.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (3889133..3900272, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (3401037..3412176, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3805697..3816836, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 104 Neighboring gene uncharacterized LOC124903829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3767162-3767662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 67 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 127 Neighboring gene Sharpr-MPRA regulatory region 4254 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:3787529-3787731 Neighboring gene DNA fragmentation factor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 128 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3815928-3816498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3816499-3817067 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:3817068-3817637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 130 Neighboring gene long intergenic non-protein coding RNA 1134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:3827787-3828672 Neighboring gene long intergenic non-protein coding RNA 1346 Neighboring gene long intergenic non-protein coding RNA 1345

    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. Functional analysis of candidate genes from genome-wide association studies of hearing. Ingham NJ, et al. Hear Res, 2020 Mar 1. PMID 31927188, Free PMC Article
    2. Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications. Salguero AL, et al. ACS Chem Biol, 2022 Jan 21. PMID 34941261, Free PMC Article
    3. Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs. Almasy KM, et al. Mol Cell Proteomics, 2021. PMID 34186245, Free PMC Article
    4. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article
    5. Interactome Rewiring Following Pharmacological Targeting of BET Bromodomains. Lambert JP, et al. Mol Cell, 2019 Feb 7. PMID 30554943, Free PMC Article

    See all (28) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    UPF0688 protein C1orf174
    Names
    RP13-531C17.2

    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_207356.3 → NP_997239.2  UPF0688 protein C1orf174

      See identical proteins and their annotated locations for NP_997239.2

      Status: VALIDATED

      Source sequence(s)
      AL691523, BC067302
      Consensus CDS
      CCDS53.1
      UniProtKB/Swiss-Prot
      A8K0C8, A8MUG9, Q5SR20, Q6NX36, Q8IYL3
      UniProtKB/TrEMBL
      A0A7P0T887
      Related
      ENSP00000355306.3, ENST00000361605.4
      Conserved Domains (1) summary
      pfam15772
      Location:6 → 231
      UPF0688; UPF0688 family

    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
      3889133..3900272 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541323.3 → XP_011539625.1  UPF0688 protein C1orf174 isoform X1

      See identical proteins and their annotated locations for XP_011539625.1

      Conserved Domains (1) summary
      pfam15772
      Location:54 → 242
      UPF0688; UPF0688 family

    2. XM_047419221.1 → XP_047275177.1  UPF0688 protein C1orf174 isoform X2

      UniProtKB/TrEMBL
      A0A7P0TAC3
      Related
      ENSP00000506027.1, ENST00000680054.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      3401037..3412176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336250.1 → XP_054192225.1  UPF0688 protein C1orf174 isoform X1

    2. XM_054336251.1 → XP_054192226.1  UPF0688 protein C1orf174 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYL3.2 GenPept UniProtKB/Swiss-Prot:Q8IYL3

    Gene LinkOut

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

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