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PEAK3 PEAK family member 3 [ Homo sapiens (human) ]

Gene ID: 374872, updated on 5-Jan-2022

Summary

Official Symbol
PEAK3provided by HGNC
Official Full Name
PEAK family member 3provided by HGNC
Primary source
HGNC:HGNC:24793
See related
Ensembl:ENSG00000188305 MIM:618526
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
C19orf35
Summary
Enables protein self-association. Involved in regulation of actin cytoskeleton organization and regulation of cell shape. Predicted to be active in actin cytoskeleton and focal adhesion. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See PEAK3 in Genome Data Viewer
Location:
19p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (2274631..2282175, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2274630..2282174, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372240 Neighboring gene ornithine decarboxylase antizyme 1 Neighboring gene leucine rich repeat and Ig domain containing 3 Neighboring gene uncharacterized LOC101928572 Neighboring gene LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene signal peptide peptidase like 2B

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

EBI GWAS Catalog

Description
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
EBI GWAS Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ45778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_198532.3NP_940934.1  protein PEAK3

    See identical proteins and their annotated locations for NP_940934.1

    Status: VALIDATED

    Source sequence(s)
    AC004152, AK127680
    Consensus CDS
    CCDS12087.1
    UniProtKB/Swiss-Prot
    Q6ZS72
    Related
    ENSP00000345102.3, ENST00000342063.5

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    2274631..2282175 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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