U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

C3orf80 chromosome 3 open reading frame 80 [ Homo sapiens (human) ]

Gene ID: 401097, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
C3orf80provided by HGNC
Official Full Name
chromosome 3 open reading frame 80provided by HGNC
Primary source
HGNC:HGNC:40048
See related
Ensembl:ENSG00000180044 AllianceGenome:HGNC:40048
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
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See C3orf80 in Genome Data Viewer
Location:
3q25.33
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (160225422..160228213)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (163000019..163002810)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (159943209..159946000)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene IL12A antisense RNA 1 Neighboring gene uncharacterized LOC124906252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:159756960-159757562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159794247-159794746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159815928-159816428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:159816429-159816929 Neighboring gene Sharpr-MPRA regulatory region 6612 Neighboring gene bromodomain containing 7 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:159896251-159896847 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:159896848-159897443 Neighboring gene Sharpr-MPRA regulatory region 14309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14854 Neighboring gene TRIM59-IFT80 readthrough (NMD candidate) Neighboring gene intraflagellar transport 80 Neighboring gene ribosomal protein L35a pseudogene 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:160117119-160117481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14855 Neighboring gene microRNA 15b Neighboring gene structural maintenance of chromosomes 4

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

Go to the top of the page Help

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
uncharacterized membrane protein C3orf80

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001168214.2 → NP_001161686.1  uncharacterized membrane protein C3orf80 precursor

    See identical proteins and their annotated locations for NP_001161686.1

    Status: VALIDATED

    Source sequence(s)
    AC112641
    Consensus CDS
    CCDS54667.1
    UniProtKB/Swiss-Prot
    F5H4A9, Q8N5S4
    Related
    ENSP00000313324.3, ENST00000326474.5
    Conserved Domains (1) summary
    pfam15843
    Location:46 → 247
    DUF4719; Domain of unknown function (DUF4719)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    160225422..160228213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    163000019..163002810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
F5H4A9.1 GenPept UniProtKB/Swiss-Prot:F5H4A9

Gene LinkOut

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

Molecular Biology Databases
Research Materials
Tools
Miscellaneous