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

Gene ID: 84970, updated on 23-Nov-2021

Summary

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
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

See C1orf94 in Genome Data Viewer
Location:
1p35.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (34166993..34219131)
105.20201022 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 RNA, 5S ribosomal pseudogene 42 Neighboring gene Sharpr-MPRA regulatory region 230 Neighboring gene ferritin, heavy polypeptide 1 pseudogene Neighboring gene uncharacterized LOC105378639

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001134734.2NP_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
    Q6P1W5
    Related
    ENSP00000435634.1, ENST00000488417.2
    Conserved Domains (1) summary
    pfam15752
    Location:199598
    DUF4688; Domain of unknown function (DUF4688)
  2. NM_032884.5NP_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:9408
    DUF4688; Domain of unknown function (DUF4688)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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