Seroatlas · Human Serome Atlas

APH1B

Gamma-secretase subunit APH-1B

Also known as: APH-1B, APH1B_HUMAN, DKFZp564D0372, PSFL

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

Protein identityUniProt · HPA

UniProt accession: Q8WW43
Gene: APH1B
Ensembl: ENSG00000138613
Chromosome: 15
Canonical length: 257 aa
Protein class: Predicted membrane proteins, Transporters
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

257 residues, UniProt reviewed canonical sequence.

>Q8WW43|APH1B
     1  MTAAVFFGCA FIAFGPALAL YVFTIATEPL RIIFLIAGAF FWLVSLLISS LVWFMARVII
    61  DNKDGPTQKY LLIFGAFVSV YIQEMFRFAY YKLLKKASEG LKSINPGETA PSMRLLAYVS
   121  GLGFGIMSGV FSFVNTLSDS LGPGTVGIHG DSPQFFLYSA FMTLVIILLH VFWGIVFFDG
   181  CEKKKWGILL IVLLTHLLVS AQTFISSYYG INLASAFIIL VLMGTWAFLA AGGSCRSLKL
   241  CLLCQDKNFL LYNQRSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against APH1B 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: Cell surface
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 111 nTPM

Expression across tissuesHPA

Tissue

testis: 111 nTPM
thyroid gland: 18 nTPM
fallopian tube: 15 nTPM
choroid plexus: 13 nTPM
spleen: 13 nTPM
adrenal gland: 11 nTPM

Single-cell type

late primary spermatocytes: 2,368 nCPM
early spermatids: 1,354 nCPM
late spermatids: 364 nCPM
neutrophils: 203 nCPM
tuft cells: 138 nCPM
kupffer cells: 115 nCPM

Immune cell

non-classical monocyte: 108 nTPM
intermediate monocyte: 63 nTPM
neutrophil: 44 nTPM
eosinophil: 42 nTPM
basophil: 32 nTPM
classical monocyte: 32 nTPM

Brain region

white matter: 22 nTPM
midbrain: 21 nTPM
spinal cord: 20 nTPM
choroid plexus: 18 nTPM
basal ganglia: 18 nTPM
medulla oblongata: 18 nTPM

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): 1.74
gnomAD pLI: 0
gnomAD missense Z: -0.18
DepMap mean gene effect: -0.01
DepMap dependency class: none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of APH1B 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 APH1B as an antibody target. Whether an autoantibody or antibody against APH1B could matter depends on whether native APH1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

APH1B is annotated at the cell surface, where native APH1B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label APH1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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