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APH1B aph-1 homolog B, gamma-secretase subunit [ Homo sapiens (human) ]

Gene ID: 83464, updated on 11-Jun-2021

Summary

Official Symbol
APH1Bprovided by HGNC
Official Full Name
aph-1 homolog B, gamma-secretase subunitprovided by HGNC
Primary source
HGNC:HGNC:24080
See related
Ensembl:ENSG00000138613 MIM:607630
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
PSFL; APH-1B; PRO1328; TAAV688
Summary
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]
Expression
Broad expression in testis (RPKM 23.1), thyroid (RPKM 13.1) and 22 other tissues See more
Orthologs
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Genomic context

See APH1B in Genome Data Viewer
Location:
15q22.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (63277550..63309126)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63569804..63601325)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928972 Neighboring gene RAB8B, member RAS oncogene family Neighboring gene carbonic anhydrase 12 Neighboring gene long intergenic non-protein coding RNA 2568

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33115, DKFZp564D0372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase activator activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables endopeptidase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein-macromolecule adaptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Notch receptor processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Notch receptor processing, ligand-dependent TAS
Traceable Author Statement
more info
 
involved_in Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in amyloid fibril formation TAS
Traceable Author Statement
more info
 
involved_in amyloid precursor protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane protein intracellular domain proteolysis TAS
Traceable Author Statement
more info
 
involved_in positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
involved_in positive regulation of endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within protein processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein processing IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
part_of gamma-secretase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of gamma-secretase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-secretase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in transport vesicle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
gamma-secretase subunit APH-1B
Names
APH1B gamma secretase subunit
anterior pharynx defective 1 homolog B
aph-1beta

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.

mRNA and Protein(s)

  1. NM_001145646.2NP_001139118.1  gamma-secretase subunit APH-1B isoform 2

    See identical proteins and their annotated locations for NP_001139118.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon and encodes a shorter isoform (2), as compared to variant 1.
    Source sequence(s)
    AB189172, AC016207, AI693802, DA397427
    Consensus CDS
    CCDS45276.1
    UniProtKB/Swiss-Prot
    Q8WW43
    Related
    ENSP00000369700.4, ENST00000380343.8
    Conserved Domains (1) summary
    pfam06105
    Location:3191
    Aph-1; Aph-1 protein
  2. NM_031301.4NP_112591.2  gamma-secretase subunit APH-1B isoform 1

    See identical proteins and their annotated locations for NP_112591.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC016207, AI693802, AK291204, DA397427
    Consensus CDS
    CCDS10184.1
    UniProtKB/Swiss-Prot
    Q8WW43
    Related
    ENSP00000261879.5, ENST00000261879.10
    Conserved Domains (1) summary
    pfam06105
    Location:3232
    Aph-1; Aph-1 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    63277550..63309126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522105.3XP_011520407.1  gamma-secretase subunit APH-1B isoform X1

    Conserved Domains (1) summary
    pfam06105
    Location:2187
    Aph-1; Aph-1 protein
  2. XM_024450086.1XP_024305854.1  gamma-secretase subunit APH-1B isoform X2

    Conserved Domains (1) summary
    pfam06105
    Location:18178
    Aph-1; Aph-1 protein
  3. XM_024450085.1XP_024305853.1  gamma-secretase subunit APH-1B isoform X2

    Related
    ENSP00000453002.1, ENST00000560890.5
    Conserved Domains (1) summary
    pfam06105
    Location:18178
    Aph-1; Aph-1 protein
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