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AP5Z1 adaptor related protein complex 5 subunit zeta 1 [ Homo sapiens (human) ]

Gene ID: 9907, updated on 7-Dec-2018

Summary

Official Symbol
AP5Z1provided by HGNC
Official Full Name
adaptor related protein complex 5 subunit zeta 1provided by HGNC
Primary source
HGNC:HGNC:22197
See related
Ensembl:ENSG00000242802 MIM:613653
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
zeta; SPG48; KIAA0415
Summary
This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in spleen (RPKM 5.9), skin (RPKM 4.3) and 25 other tissues See more
Orthologs

Genomic context

See AP5Z1 in Genome Data Viewer
Location:
7p22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (4775617..4794395)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (4815262..4834026)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375133 Neighboring gene forkhead box K1 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 2 Neighboring gene microRNA 4656 Neighboring gene Rap associating with DIL domain Neighboring gene small nucleolar RNA, C/D box 165 Neighboring gene poly(A) polymerase beta

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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0415

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AP-5 adaptor complex IEA
Inferred from Electronic Annotation
more info
 
AP-type membrane coat adaptor complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
AP-5 complex subunit zeta-1
Names
adapter-related protein complex 5 zeta subunit
adaptor related protein complex 5 zeta 1 subunit
adaptor-related protein complex 5 zeta subunit
zeta5

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_028111.1 RefSeqGene

    Range
    4993..23767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1247

mRNA and Protein(s)

  1. NM_001364858.1NP_001351787.1  AP-5 complex subunit zeta-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092610
    Conserved Domains (1) summary
    pfam14764
    Location:164281
    SPG48; AP-5 complex subunit, vesicle trafficking
  2. NM_014855.3NP_055670.1  AP-5 complex subunit zeta-1 isoform 1

    See identical proteins and their annotated locations for NP_055670.1

    Status: REVIEWED

    Source sequence(s)
    AB007875, AC092610, AI927641, BC008841, BI766915, BQ228738, CD671081, HY145300
    Consensus CDS
    CCDS47528.1
    UniProtKB/Swiss-Prot
    O43299
    Related
    ENSP00000297562.4, ENST00000348624.5
    Conserved Domains (1) summary
    pfam14764
    Location:320437
    SPG48; AP-5 complex subunit, vesicle trafficking

RNA

  1. NR_157345.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092610

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    4775617..4794395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012864.1XP_016868353.1  AP-5 complex subunit zeta-1 isoform X1

    Conserved Domains (1) summary
    pfam14764
    Location:164281
    SPG48; AP-5 complex subunit, vesicle trafficking

RNA

  1. XR_242109.3 RNA Sequence

    Related
    ENST00000650310.1
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