AP5B1

Protein identityUniProt · HPA

UniProt accession

Q2VPB7

Gene

AP5B1

Ensembl

ENSG00000254470

Chromosome

11

Canonical length

878 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Golgi apparatus,Vesicles

OverviewNCBI Gene

Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

878 residues, UniProt reviewed canonical sequence.

>Q2VPB7|AP5B1
     1  MGPLSRDAWA QRLGAFRASP SAFMAGPEGE DLGRDLLSDL RSEKLSEQTK VSLLALSMEY
    61  PAQLWPDASA AEVAATSLLD TLVLLPPRPS ALRRPLLLAA TTALAAGGAL GPTSGASCRL
   121  LPLLLGLAAG SDLGRGFVPA SEQRPLQATA CECLRELESC KPGLLGGSLG LLRGLLGQEG
   181  PVQPLSLLLA LALRNTLVLQ SRVGAGLGGL LTDKVSPTGG GPWDWTLVEE GDGRLQPQAP
   241  SWPAAEEGEG ERSLTAREHS PEEARELRAA VIQLLDTSYL LTPVAQAQLL WLLGWALRGL
   301  QGQPPALFKP QLVRLLGTAQ LTLLHAMLAL KAAFGEALFT AQDEALLLRR LTLAAQHPAL
   361  PPPTHLFYLH CVLSFPENWP LGPEGEEAAP LLLGPQLCRG LLPSLLHDPM ALLARLHLLC
   421  LLCAEEEEEE KGQLPSPRHY LEELLAGLRQ RAALDGGPRA LATLCFQASY LVACCLAGQP
   481  TVLTPLIHGL AQLYQARPML APHFVDLLDQ VDSELREPLK VVLRQVVVSR PGRDEALCWH
   541  LQMLAKVADG DAQSATLNFL QAAAAHCTNW DLQQGLLRVC RALLRAGVRG GLVDLLQVLA
   601  RQLEDPDGRD HARLYYILLA HLAAPKLGVA LGPSLAAPAL ASSLVAENQG FVAALMVQEA
   661  PALVRLSLGS HRVKGPLPVL KLQPEALEPI YSLELRFRVE GQLYAPLEAV HVPCLCPGRP
   721  ARPLLLPLQP RCPAPARLDV HALYTTSTGL TCHAHLPPLF VNFADLFLPF PQPPEGAGLG
   781  FFEELWDSCL PEGAESRVWC PLGPQGLEGL VSRHLEPFVV VAQPPTSYCV AIHLPPDSKL
   841  LLRLEAALAD GVPVALRTDD WAVLPLAGDY LRGLAAAV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP5B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

42 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP5B1.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 159 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Macular dystrophy with or without extraocular features
• AP5B1-associated macular dystrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.24

gnomAD pLI

0

gnomAD missense Z

-0.69

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endosomal transport
• protein transport
• vesicle-mediated transport

Cellular components

• AP-5 adaptor complex
• AP-type membrane coat adaptor complex
• late endosome
• lysosomal membrane

Protein domainsUniProt · Pfam · InterPro

• AP-5 complex subunit beta-1
• AP-5 complex subunit beta-1, N-terminal domain
• AP5B1, middle domain
• AP-5 complex subunit beta-1, beta-barrel domain
• AP5B1, C-terminal domain
• AP-5 complex subunit beta-1, N-terminal
• AP5B1, middle domain
• AP-5 complex subunit beta-1, beta-barrel
• AP5B1, C-terminal

KeywordsUniProt

• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of AP5B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SPG11
• ZFYVE26
• CAMK2B