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

Gene ID: 389336, updated on 5-Aug-2022

Summary

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
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Genomic context

See C5orf46 in Genome Data Viewer
Location:
5q32
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (147885885..147906538, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148428425..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 Sharpr-MPRA regulatory region 332 Neighboring gene secretoglobin family 3A member 2 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 2 Neighboring gene uncharacterized LOC124901185 Neighboring gene serine peptidase inhibitor Kazal type 5

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
uncharacterized protein C5orf46
Names
CTC-327F10.5
skin and saliva secreted protein 1

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_206966.3NP_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
    Q6UWT4, Q8WU04
    Related
    ENSP00000315370.4, ENST00000318315.5
    Conserved Domains (1) summary
    pfam15144
    Location:187
    DUF4576; Domain of unknown function (DUF4576)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005268446.4XP_005268503.3  uncharacterized protein C5orf46 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU04
  2. XM_047417169.1XP_047273125.1  uncharacterized protein C5orf46 isoform X1

    UniProtKB/Swiss-Prot
    Q8WU04

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    148428425..148442241 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)