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C1orf87 chromosome 1 open reading frame 87 [ Homo sapiens (human) ]

Gene ID: 127795, updated on 3-Apr-2024

Summary

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Official Symbol
C1orf87provided by HGNC
Official Full Name
chromosome 1 open reading frame 87provided by HGNC
Primary source
HGNC:HGNC:28547
See related
Ensembl:ENSG00000162598 MIM:618860; AllianceGenome:HGNC:28547
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
Also known as
CREF
Expression
Biased expression in testis (RPKM 1.8), lung (RPKM 1.6) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
1p32.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (59990394..60073770, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (59868848..59952337, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (60456066..60539442, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:60380537-60381736 Neighboring gene cytochrome P450 family 2 subfamily J member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:60391793-60392328 Neighboring gene RNA, 7SL, cytoplasmic 475, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:60505410-60506609 Neighboring gene piggyBac transposable element derived 4 pseudogene 8 Neighboring gene long intergenic non-protein coding RNA 2778 Neighboring gene uncharacterized LOC107984963

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. Quantitative Proteomic Analysis of Human Airway Cilia Identifies Previously Uncharacterized Proteins of High Abundance. Blackburn K, et al. J Proteome Res, 2017 Apr 7. PMID 28282151, Free PMC Article
  2. The lung-specific proteome defined by integration of transcriptomics and antibody-based profiling. Lindskog C, et al. FASEB J, 2014 Dec. PMID 25169055
  3. Open reading frames associated with cancer in the dark matter of the human genome. Delgado AP, et al. Cancer Genomics Proteomics, 2014 Jul-Aug. PMID 25048349
  4. Genome-wide association study of chronic periodontitis in a general German population. Teumer A, et al. J Clin Periodontol, 2013 Nov. PMID 24024966
  5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

See all (12) 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

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
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

  • FLJ44073, MGC34837

General protein information

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Preferred Names
uncharacterized protein C1orf87
Names
carcinoma-related EF-hand protein

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_152377.3 → NP_689590.1  uncharacterized protein C1orf87

    See identical proteins and their annotated locations for NP_689590.1

    Status: VALIDATED

    Source sequence(s)
    BC027878, CD707889
    Consensus CDS
    CCDS614.1
    UniProtKB/Swiss-Prot
    Q6ZU07, Q8IVS0, Q8N0U7
    UniProtKB/TrEMBL
    B3KWE0
    Related
    ENSP00000360244.3, ENST00000371201.3

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
    59990394..60073770 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000307.2 → XP_016855796.1  uncharacterized protein C1orf87 isoform X1

    UniProtKB/TrEMBL
    B3KWE0

  2. XM_017000308.2 → XP_016855797.1  uncharacterized protein C1orf87 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    59868848..59952337 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334397.1 → XP_054190372.1  uncharacterized protein C1orf87 isoform X1

  2. XM_054334398.1 → XP_054190373.1  uncharacterized protein C1orf87 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N0U7.1 GenPept UniProtKB/Swiss-Prot:Q8N0U7

Gene LinkOut

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

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