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    C1orf226 chromosome 1 open reading frame 226 [ Homo sapiens (human) ]

    Gene ID: 400793, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1orf226provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 226provided by HGNC
    Primary source
    HGNC:HGNC:34351
    See related
    Ensembl:ENSG00000239887 AllianceGenome:HGNC:34351
    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
    Ubiquitous expression in colon (RPKM 4.5), adrenal (RPKM 4.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf226 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162378841..162386812)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (161722817..161730827)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162348631..162356602)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase 1 adaptor protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:162324648-162325148 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:162327537-162327759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162336993-162337492 Neighboring gene microRNA 556 Neighboring gene Sharpr-MPRA regulatory region 12682 Neighboring gene Sharpr-MPRA regulatory region 4437 Neighboring gene spermatogenesis associated 46 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:162389320-162390519 Neighboring gene SH2 domain containing 1B Neighboring gene SLAM family member 6 pseudogene 1

    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. The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair. Guard SE, et al. Sci Rep, 2019 Apr 25. PMID 31024071, Free PMC Article
    2. Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission. St-Denis N, et al. Mol Cell Proteomics, 2015 Apr. PMID 25659891, Free PMC Article
    3. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. Coyaud E, et al. Mol Cell Proteomics, 2015 Jul. PMID 25900982, Free PMC Article
    4. A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2-Bispecific Antibody for Combination Cancer Therapy. El Zawily A, et al. Clin Cancer Res, 2023 Jul 14. PMID 36976175, 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 (24) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: NOS1AP

    Homology

    Clone Names

    • FLJ13137, FLJ43132, FLJ55152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C1orf226

    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_001085375.2 → NP_001078844.1  uncharacterized protein C1orf226 isoform 2

      See identical proteins and their annotated locations for NP_001078844.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus when it is compared to variant 1.
      Source sequence(s)
      AI480219, AK125122, AL512785
      Consensus CDS
      CCDS53422.1
      UniProtKB/Swiss-Prot
      A1L170, B4DF31
      Related
      ENSP00000437071.1, ENST00000458626.4
      Conserved Domains (1) summary
      pfam15429
      Location:1 → 272
      DUF4628; Domain of unknown function (DUF4628)

    2. NM_001135240.3 → NP_001128712.1  uncharacterized protein C1orf226 isoform 1

      See identical proteins and their annotated locations for NP_001128712.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
      Source sequence(s)
      AI480219, AK293907, AL512785, DR000934
      Consensus CDS
      CCDS44268.1
      UniProtKB/Swiss-Prot
      A1L170
      Related
      ENSP00000413150.2, ENST00000426197.2
      Conserved Domains (1) summary
      pfam15429
      Location:44 → 315
      DUF4628; Domain of unknown function (DUF4628)

    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
      162378841..162386812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      161722817..161730827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1L170.1 GenPept UniProtKB/Swiss-Prot:A1L170

    Gene LinkOut

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

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