U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 9907, updated on 1-Mar-2024

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; AllianceGenome:HGNC:22197
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See AP5Z1 in Genome Data Viewer
Location:
7p22.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (4775623..4794397)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (4892837..4911604)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (4815254..4834028)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4739232-4739732 Neighboring gene forkhead box K1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4742083-4742842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4744443-4745084 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4745727-4746368 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4746369-4747010 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4747011-4747652 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4747653-4748294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4748937-4749577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4750899-4751431 Neighboring gene uncharacterized LOC124901581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4763724-4764310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4776642-4777196 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:4777977-4779176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4779416-4779969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4779970-4780524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4789475-4789974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4793383-4793937 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:4800052-4801251 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4813996-4814672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4814673-4815349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4832559-4833233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17904 Neighboring gene microRNA 4656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4847903-4848404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4848405-4848904 Neighboring gene Rap associating with DIL domain Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:4878225-4878893 Neighboring gene small nucleolar RNA, C/D box 165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:4900904-4901516 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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0415

Gene Ontology Provided by GOA

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

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.

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, Q8N3X2, Q96H80
    Related
    ENSP00000497815.1, ENST00000649063.2
    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
    Related
    ENST00000648925.1

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    4775623..4794397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421098.1XP_047277054.1  AP-5 complex subunit zeta-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    4892837..4911604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359453.1XP_054215428.1  AP-5 complex subunit zeta-1 isoform X1