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    C1orf167 chromosome 1 open reading frame 167 [ Homo sapiens (human) ]

    Gene ID: 284498, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1orf167provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 167provided by HGNC
    Primary source
    HGNC:HGNC:25262
    See related
    Ensembl:ENSG00000215910 AllianceGenome:HGNC:25262
    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
    Implicated in coronary artery disease. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 7.7), lung (RPKM 3.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf167 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11762193..11789585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11306279..11333667)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11822250..11849642)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitotic arrest deficient 2 like 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11750065-11750574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11750575-11751082 Neighboring gene dorsal inhibitory axon guidance protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11764337-11764964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11786269-11787256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11808242-11808918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11808919-11809595 Neighboring gene angiotensin II receptor associated protein Neighboring gene atrophin-1-like Neighboring gene C1orf167 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11847781-11848588 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11851353-11851865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11860626-11861224 Neighboring gene methylenetetrahydrofolate reductase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11862804-11863700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11863701-11864596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11865893-11866878 Neighboring gene chloride voltage-gated channel 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 178 Neighboring gene VISTA enhancer hs2123 Neighboring gene NPPA antisense RNA 1 Neighboring gene natriuretic peptide A

    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. Three novel genes tied to mandibular prognathism in eastern Mediterranean families. Genno PG, et al. Am J Orthod Dentofacial Orthop, 2019 Jul. PMID 31256822
    2. Examination of the associations between m(6)A-associated single-nucleotide polymorphisms and blood pressure. Mo XB, et al. Hypertens Res, 2019 Oct. PMID 31175347
    3. Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms. Tran P, et al. Mamm Genome, 2002 Sep. PMID 12370778
    4. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. van Meurs JB, et al. Am J Clin Nutr, 2013 Sep. PMID 23824729, Free PMC Article
    5. Candidate gene polymorphisms for ischemic stroke. Matarin M, et al. Stroke, 2009 Nov. PMID 19729601, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434E1410, DKFZp434F1313

    General protein information

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    Preferred Names
    uncharacterized protein C1orf167

    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_001010881.2 → NP_001010881.1  uncharacterized protein C1orf167

      Status: VALIDATED

      Source sequence(s)
      AF398935, AL833920, AL833926, AL834308, AL953897, BC128091, HY031308, HY056181
      Consensus CDS
      CCDS90862.1
      UniProtKB/Swiss-Prot
      A0A8I5KXP5, Q5SNV9, Q8NDA9, Q8NDF3
      UniProtKB/TrEMBL
      A0AAG2QDU5
      Related
      ENSP00000510540.1, ENST00000688073.1
      Conserved Domains (1) summary
      pfam15736
      Location:954 → 1418
      DUF4684; Domain of unknown function (DUF4684)

    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
      11762193..11789585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446507.2 → XP_024302275.1  uncharacterized protein C1orf167 isoform X1

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1436
      DUF4684; Domain of unknown function (DUF4684)

    2. XM_024446506.2 → XP_024302274.1  uncharacterized protein C1orf167 isoform X1

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1436
      DUF4684; Domain of unknown function (DUF4684)

    3. XM_011541272.4 → XP_011539574.1  uncharacterized protein C1orf167 isoform X3

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1463
      DUF4684; Domain of unknown function (DUF4684)

    4. XM_011541278.3 → XP_011539580.1  uncharacterized protein C1orf167 isoform X7

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1404
      DUF4684; Domain of unknown function (DUF4684)

    5. XM_011541276.4 → XP_011539578.1  uncharacterized protein C1orf167 isoform X5

      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1329
      DUF4684; Domain of unknown function (DUF4684)

    6. XM_011541277.4 → XP_011539579.1  uncharacterized protein C1orf167 isoform X6

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1400
      DUF4684; Domain of unknown function (DUF4684)

    7. XM_024446512.2 → XP_024302280.1  uncharacterized protein C1orf167 isoform X2

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:981 → 1418
      DUF4684; Domain of unknown function (DUF4684)

    8. XM_024446509.2 → XP_024302277.1  uncharacterized protein C1orf167 isoform X1

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1436
      DUF4684; Domain of unknown function (DUF4684)

    9. XM_024446514.2 → XP_024302282.1  uncharacterized protein C1orf167 isoform X4

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:954 → 1361
      DUF4684; Domain of unknown function (DUF4684)

    10. XM_024446517.2 → XP_024302285.1  uncharacterized protein C1orf167 isoform X4

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:954 → 1361
      DUF4684; Domain of unknown function (DUF4684)

    11. XM_024446508.2 → XP_024302276.1  uncharacterized protein C1orf167 isoform X1

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:999 → 1436
      DUF4684; Domain of unknown function (DUF4684)

    12. XM_024446515.2 → XP_024302283.1  uncharacterized protein C1orf167 isoform X4

      UniProtKB/TrEMBL
      A0AAG2QDU5
      Conserved Domains (1) summary
      pfam15736
      Location:954 → 1361
      DUF4684; Domain of unknown function (DUF4684)

    13. XM_024446518.2 → XP_024302286.1  uncharacterized protein C1orf167 isoform X8

      UniProtKB/TrEMBL
      H7BXQ2
      Conserved Domains (1) summary
      pfam15736
      Location:426 → 863
      DUF4684; Domain of unknown function (DUF4684)

    14. XM_047418137.1 → XP_047274093.1  uncharacterized protein C1orf167 isoform X8

      UniProtKB/TrEMBL
      H7BXQ2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      11306279..11333667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336095.1 → XP_054192070.1  uncharacterized protein C1orf167 isoform X1

    2. XM_054336094.1 → XP_054192069.1  uncharacterized protein C1orf167 isoform X1

    3. XM_054336099.1 → XP_054192074.1  uncharacterized protein C1orf167 isoform X3

      UniProtKB/TrEMBL
      A0AAG2QDU5

    4. XM_054336105.1 → XP_054192080.1  uncharacterized protein C1orf167 isoform X7

      UniProtKB/TrEMBL
      A0AAG2QDU5

    5. XM_054336103.1 → XP_054192078.1  uncharacterized protein C1orf167 isoform X5

    6. XM_054336104.1 → XP_054192079.1  uncharacterized protein C1orf167 isoform X6

      UniProtKB/TrEMBL
      A0AAG2QDU5

    7. XM_054336098.1 → XP_054192073.1  uncharacterized protein C1orf167 isoform X2

      UniProtKB/TrEMBL
      A0AAG2QDU5

    8. XM_054336097.1 → XP_054192072.1  uncharacterized protein C1orf167 isoform X1

    9. XM_054336100.1 → XP_054192075.1  uncharacterized protein C1orf167 isoform X4

      UniProtKB/TrEMBL
      A0AAG2QDU5

    10. XM_054336102.1 → XP_054192077.1  uncharacterized protein C1orf167 isoform X4

      UniProtKB/TrEMBL
      A0AAG2QDU5

    11. XM_054336096.1 → XP_054192071.1  uncharacterized protein C1orf167 isoform X1

    12. XM_054336101.1 → XP_054192076.1  uncharacterized protein C1orf167 isoform X4

      UniProtKB/TrEMBL
      A0AAG2QDU5

    13. XM_054336106.1 → XP_054192081.1  uncharacterized protein C1orf167 isoform X8

      UniProtKB/TrEMBL
      H7BXQ2

    14. XM_054336107.1 → XP_054192082.1  uncharacterized protein C1orf167 isoform X8

      UniProtKB/TrEMBL
      H7BXQ2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SNV9.3 GenPept UniProtKB/Swiss-Prot:Q5SNV9

    Gene LinkOut

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

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    Research Materials