AP5B1 adaptor related protein complex 5 subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AP5B1provided by HGNC
Official Full Name: adaptor related protein complex 5 subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:25104
See related: Ensembl:ENSG00000254470 MIM:614367; AllianceGenome:HGNC:25104
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-5; PP1030
Summary: Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bone marrow (RPKM 18.6), spleen (RPKM 4.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65773898..65780976, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65768361..65775439, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65541369..65548447, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-2 particle release was dependent on the adaptor protein complex AP-3 and the newly identified AP-5 complex, but much less so on AP-1.
Title: Human Immunodeficiency Virus Type 2 (HIV-2) Gag Is Trafficked in an AP-3 and AP-5 Dependent Manner.
We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold.
Title: Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.
AP-5 is an evolutionarily ancient complex, which is involved in endosomal sorting, and which has links with hereditary spastic paraplegia.
Title: The fifth adaptor protein complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

WI-17527 (e-PCR)
- UniSTS:9075

L18441 (e-PCR)
- UniSTS:71348

L17971 (e-PCR)
- UniSTS:43966

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 endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-type membrane coat adaptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	NAS Non-traceable Author Statement more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed

General protein information

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Preferred Names: AP-5 complex subunit beta-1

Names: AP-5 complex subunit beta; adaptor related protein complex 5 beta 1 subunit; adaptor-related protein complex 5 beta subunit; beta5

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.