Seroatlas · Human Serome Atlas

AP4B1

AP-4 complex subunit beta-1

Also known as: AP4B1_HUMAN, BETA-4, SPG47

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y6B7
Gene: AP4B1
Ensembl: ENSG00000134262
Chromosome: 1
Canonical length: 739 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

739 residues, UniProt reviewed canonical sequence.

>Q9Y6B7|AP4B1
     1  MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF MEMVKASATV
    61  DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM VRGLALRSMC SLRMPGVQEY
   121  IQQPILNGLR DKASYVRRVA VLGCAKMHNL HGDSEVDGAL VNELYSLLRD QDPIVVVNCL
   181  RSLEEILKQE GGVVINKPIA HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL
   241  DSFLKSSSPG VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
   301  RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE ELRGYCTDVS
   361  ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV VVQTFRDLVW LCPQCTEAVC
   421  QALPGCEENI QDSEGKQALI WLLGVHGERI PNAPYVLEDF VENVKSETFP AVKMELLTAL
   481  LRLFLSRPAE CQDMLGRLLY YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP
   541  TLGLLEDPAE RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
   601  IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG EFHPDTLQMA
   661  LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE PGNSEMQISV KQNEARTETL
   721  NSFISVLETV IGTIEEIKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP4B1 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: 20 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 20 nTPM
spleen: 20 nTPM
bone marrow: 19 nTPM
retina: 19 nTPM
thymus: 15 nTPM
epididymis: 13 nTPM

Single-cell type

adrenal medulla cells: 43 nCPM
esophageal apical cells: 40 nCPM
early primary spermatocytes: 26 nCPM
thyrotrophs: 22 nCPM
cone photoreceptor cells: 21 nCPM
hepatic stellate cells: 19 nCPM

Immune cell

basophil: 16 nTPM
MAIT T-cell: 16 nTPM
gdT-cell: 15 nTPM
myeloid DC: 13 nTPM
naive CD4 T-cell: 13 nTPM
memory CD8 T-cell: 13 nTPM

Brain region

cerebellum: 17 nTPM
hypothalamus: 14 nTPM
white matter: 14 nTPM
basal ganglia: 14 nTPM
cerebral cortex: 14 nTPM
hippocampal formation: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP4B1.

Disease | AllUniProt

Conditions AP4B1 is implicated in, by any mechanism.

Spastic paraplegia 47, autosomal recessive (SPG47) MIM:614066

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 494 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 47
Spastic paraplegia
Inborn genetic diseases
Abnormal brain morphology
AP4B1-related disorder

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): 0.83
gnomAD pLI: 0
gnomAD missense Z: 0.13
DepMap mean gene effect: -0.03
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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AP4B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AP4B1 as an antibody target. Whether an autoantibody or antibody against AP4B1 could matter depends on whether native AP4B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AP4B1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AP4B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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