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

Gene ID: 284498, updated on 7-Apr-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, Apr 2022]
Expression
Broad expression in testis (RPKM 7.7), lung (RPKM 3.1) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.22
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11762193..11789585)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11306279..11333667)
105.20220307 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 (13) 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)

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

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

mRNA and Protein(s)

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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

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

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

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

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

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

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

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

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

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

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

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

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

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

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