U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

C5orf46 chromosome 5 open reading frame 46 [ Homo sapiens (human) ]

Gene ID: 389336, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
C5orf46provided by HGNC
Official Full Name
chromosome 5 open reading frame 46provided by HGNC
Primary source
HGNC:HGNC:33768
See related
Ensembl:ENSG00000178776 AllianceGenome:HGNC:33768
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
AP-64; SSSP1
Summary
Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in salivary gland (RPKM 5.3), skin (RPKM 3.8) and 2 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q32
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (147885885..147906538, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148421588..148442241, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147272285..147286101, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147244599-147245140 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147247772-147248437 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147248438-147249104 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147249105-147249771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147249772-147250438 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147253107-147253772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147253773-147254440 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147254441-147255106 Neighboring gene secretoglobin family 3A member 2 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147325894-147326466 Neighboring gene uncharacterized LOC124901185 Neighboring gene serine peptidase inhibitor Kazal type 5

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. AP-64, Encoded by C5orf46, Exhibits Antimicrobial Activity against Gram-Negative Bacteria. Zhong K, et al. Biomolecules, 2021 Mar 24. PMID 33804835, Free PMC Article
  2. Small-protein Enrichment Assay Enables the Rapid, Unbiased Analysis of Over 100 Low Abundance Factors from Human Plasma. Harney DJ, et al. Mol Cell Proteomics, 2019 Sep. PMID 31308252, Free PMC Article
  3. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Gonzalez-Begne M, et al. J Proteome Res, 2009 Mar. PMID 19199708, Free PMC Article
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC23985

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

General protein information

Go to the top of the page Help
Preferred Names
uncharacterized protein C5orf46
Names
CTC-327F10.5
skin and saliva secreted protein 1

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_206966.3 → NP_996849.2  uncharacterized protein C5orf46 precursor

    See identical proteins and their annotated locations for NP_996849.2

    Status: VALIDATED

    Source sequence(s)
    AC011352, AY358656
    Consensus CDS
    CCDS34267.1
    UniProtKB/Swiss-Prot
    A8K038, Q6UWT4, Q8WU04
    Related
    ENSP00000315370.4, ENST00000318315.5
    Conserved Domains (1) summary
    pfam15144
    Location:1 → 87
    DUF4576; Domain of unknown function (DUF4576)

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    147885885..147906538 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268446.4 → XP_005268503.3  uncharacterized protein C5orf46 isoform X1

    UniProtKB/Swiss-Prot
    A8K038, Q6UWT4, Q8WU04

  2. XM_047417169.1 → XP_047273125.1  uncharacterized protein C5orf46 isoform X1

    UniProtKB/Swiss-Prot
    A8K038, Q6UWT4, Q8WU04

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    148421588..148442241 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352568.1 → XP_054208543.1  uncharacterized protein C5orf46 isoform X1

    UniProtKB/Swiss-Prot
    A8K038, Q6UWT4, Q8WU04
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UWT4.2 GenPept UniProtKB/Swiss-Prot:Q6UWT4

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