Seroatlas · Human Serome Atlas

AP1B1

AP-1 complex subunit beta-1

Also known as: ADTB1, AP105A, AP1B1_HUMAN, BAM22, CLAPB2

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

Protein identityUniProt · HPA

UniProt accession: Q10567
Gene: AP1B1
Ensembl: ENSG00000100280
Chromosome: 22
Canonical length: 949 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Golgi apparatus,Vesicles,Cytosol

OverviewNCBI Gene

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

949 residues, UniProt reviewed canonical sequence.

>Q10567|AP1B1
     1  MTDSKYFTTT KKGEIFELKA ELNSDKKEKK KEAVKKVIAS MTVGKDVSAL FPDVVNCMQT
    61  DNLELKKLVY LYLMNYAKSQ PDMAIMAVNT FVKDCEDPNP LIRALAVRTM GCIRVDKITE
   121  YLCEPLRKCL KDEDPYVRKT AAVCVAKLHD INAQLVEDQG FLDTLKDLIS DSNPMVVANA
   181  VAALSEIAES HPSSNLLDLN PQSINKLLTA LNECTEWGQI FILDCLANYM PKDDREAQSI
   241  CERVTPRLSH ANSAVVLSAV KVLMKFMEML SKDLDYYGTL LKKLAPPLVT LLSAEPELQY
   301  VALRNINLIV QKRPEILKHE MKVFFVKYND PIYVKLEKLD IMIRLASQAN IAQVLAELKE
   361  YATEVDVDFV RKAVRAIGRC AIKVEQSAER CVSTLLDLIQ TKVNYVVQEA IVVIKDIFRK
   421  YPNKYESVIA TLCENLDSLD EPEARAAMIW IVGEYAERID NADELLESFL EGFHDESTQV
   481  QLQLLTAIVK LFLKKPTETQ ELVQQVLSLA TQDSDNPDLR DRGYIYWRLL STDPVAAKEV
   541  VLAEKPLISE ETDLIEPTLL DELICYIGTL ASVYHKPPSA FVEGGRGVVH KSLPPRTASS
   601  ESAESPETAP TGAPPGEQPD VIPAQGDLLG DLLNLDLGPP VSGPPLATSS VQMGAVDLLG
   661  GGLDSLMGDE PEGIGGTNFV APPTAAVPAN LGAPIGSGLS DLFDLTSGVG TLSGSYVAPK
   721  AVWLPAMKAK GLEISGTFTR QVGSISMDLQ LTNKALQVMT DFAIQFNRNS FGLAPAAPLQ
   781  VHAPLSPNQT VEISLPLSTV GSVMKMEPLN NLQVAVKNNI DVFYFSTLYP LHILFVEDGK
   841  MDRQMFLATW KDIPNENEAQ FQIRDCPLNA EAASSKLQSS NIFTVAKRNV EGQDMLYQSL
   901  KLTNGIWVLA ELRIQPGNPS CTDLELSLKC RAPEVSQHVY QAYETILKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AP1B1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 63 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 63 nTPM
esophagus: 61 nTPM
spleen: 54 nTPM
lymph node: 54 nTPM
tonsil: 51 nTPM
cerebral cortex: 48 nTPM

Single-cell type

hofbauer cells: 305 nCPM
microglia: 265 nCPM
rod photoreceptor cells: 189 nCPM
kupffer cells: 184 nCPM
macrophages: 164 nCPM
cone photoreceptor cells: 143 nCPM

Immune cell

non-classical monocyte: 32 nTPM
classical monocyte: 29 nTPM
intermediate monocyte: 29 nTPM
myeloid DC: 29 nTPM
total PBMC: 24 nTPM
naive B-cell: 18 nTPM

Brain region

thalamus: 107 nTPM
white matter: 100 nTPM
midbrain: 92 nTPM
pons: 90 nTPM
medulla oblongata: 89 nTPM
spinal cord: 85 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AP1B1.

Disease | AllUniProt

Conditions AP1B1 is implicated in, by any mechanism.

Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR) MIM:242150

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 185 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive keratitis-ichthyosis-deafness syndrome
AP1B1-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): 0.26
gnomAD pLI: 1
gnomAD missense Z: 3.12
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AP1B1 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 AP1B1 as an antibody target. Whether an autoantibody or antibody against AP1B1 could matter depends on whether native AP1B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AP1B1 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 AP1B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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