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C1orf94 chromosome 1 open reading frame 94 [ Homo sapiens (human) ]

Gene ID: 84970, updated on 5-Mar-2024

Summary

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Official Symbol
C1orf94provided by HGNC
Official Full Name
chromosome 1 open reading frame 94provided by HGNC
Primary source
HGNC:HGNC:28250
See related
Ensembl:ENSG00000142698 AllianceGenome:HGNC:28250
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
Restricted expression toward testis (RPKM 12.2) See more
Orthologs
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Genomic context

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Location:
1p35.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34166993..34219131)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34028721..34080828)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (34632594..34684732)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CUB and Sushi multiple domains 2 Neighboring gene CSMD2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:34484896-34485714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:34503797-34504791 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:34516720-34516822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:34526371-34526872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:34526873-34527372 Neighboring gene NANOG hESC enhancer GRCh37_chr1:34553505-34554025 Neighboring gene RNA, 5S ribosomal pseudogene 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 711 Neighboring gene Sharpr-MPRA regulatory region 230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:34644818-34645318 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:34653982-34654535 Neighboring gene ferritin, heavy polypeptide 1 pseudogene Neighboring gene uncharacterized LOC105378639

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. 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
  2. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. EPICURE Consortium, et al. Hum Mol Genet, 2012 Dec 15. PMID 22949513
  3. Proteome-scale Binary Interactomics in Human Cells. Lievens S, et al. Mol Cell Proteomics, 2016 Dec. PMID 27803151, Free PMC Article
  4. Protein interactions of the transcription factor Hoxa1. Lambert B, et al. BMC Dev Biol, 2012 Oct 22. PMID 23088713, Free PMC Article
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

See all (27) 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 analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
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

  • MGC15882

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 C1orf94

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_001134734.2 → NP_001128206.1  uncharacterized protein C1orf94 isoform a

    See identical proteins and their annotated locations for NP_001128206.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC115286, AW117410, BC064845, DB456109
    Consensus CDS
    CCDS44108.1
    UniProtKB/Swiss-Prot
    B3KVT1, D3DPR3, E9PJ76, Q6P1W5, Q96IC8
    Related
    ENSP00000435634.1, ENST00000488417.2
    Conserved Domains (1) summary
    pfam15752
    Location:199 → 598
    DUF4688; Domain of unknown function (DUF4688)

  2. NM_032884.5 → NP_116273.2  uncharacterized protein C1orf94 isoform b

    See identical proteins and their annotated locations for NP_116273.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AA725646, AK123355, CN366753
    Consensus CDS
    CCDS381.1
    UniProtKB/Swiss-Prot
    Q6P1W5
    Related
    ENSP00000362472.3, ENST00000373374.7
    Conserved Domains (1) summary
    pfam15752
    Location:9 → 408
    DUF4688; Domain of unknown function (DUF4688)

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
    34166993..34219131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    34028721..34080828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P1W5.2 GenPept UniProtKB/Swiss-Prot:Q6P1W5

Gene LinkOut

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

Chemical Information
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