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Protein

Gamma-secretase subunit APH-1A

Gene

Aph1a

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex (By similarity).By similarity

GO - Molecular functioni

  • endopeptidase activity Source: MGI
  • peptidase activity Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Notch signaling pathway

Enzyme and pathway databases

ReactomeiR-MMU-1251985. Nuclear signaling by ERBB4.
R-MMU-193692. Regulated proteolysis of p75NTR.
R-MMU-1980148. Signaling by NOTCH3.
R-MMU-1980150. Signaling by NOTCH4.
R-MMU-205043. NRIF signals cell death from the nucleus.
R-MMU-2122948. Activated NOTCH1 Transmits Signal to the Nucleus.
R-MMU-3928665. EPH-ephrin mediated repulsion of cells.

Protein family/group databases

TCDBi9.B.47.1.1. the -secretase (-secretase) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-secretase subunit APH-1A
Short name:
APH-1a
Alternative name(s):
Aph-1alpha
Gene namesi
Name:Aph1a
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:2385110. Aph1a.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 2LumenalSequence analysis2
Transmembranei3 – 23Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini24 – 31CytoplasmicSequence analysis8
Transmembranei32 – 52Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini53 – 69LumenalSequence analysisAdd BLAST17
Transmembranei70 – 90Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini91 – 118CytoplasmicSequence analysisAdd BLAST28
Transmembranei119 – 139Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini140 – 158LumenalSequence analysisAdd BLAST19
Transmembranei159 – 179Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini180 – 186CytoplasmicSequence analysis7
Transmembranei187 – 207Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini208 – 213LumenalSequence analysis6
Transmembranei214 – 234Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini235 – 265CytoplasmicSequence analysisAdd BLAST31

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002210511 – 265Gamma-secretase subunit APH-1AAdd BLAST265

Proteomic databases

PaxDbiQ8BVF7.
PRIDEiQ8BVF7.

PTM databases

iPTMnetiQ8BVF7.
PhosphoSitePlusiQ8BVF7.

Expressioni

Gene expression databases

BgeeiENSMUSG00000015750.
ExpressionAtlasiQ8BVF7. baseline and differential.
GenevisibleiQ8BVF7. MM.

Interactioni

Subunit structurei

Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist (By similarity).By similarity

Protein-protein interaction databases

BioGridi230528. 14 interactors.
IntActiQ8BVF7. 1 interactor.
MINTiMINT-1176936.
STRINGi10090.ENSMUSP00000058846.

Structurei

3D structure databases

ProteinModelPortaliQ8BVF7.
SMRiQ8BVF7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the APH-1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3972. Eukaryota.
ENOG4111FIJ. LUCA.
GeneTreeiENSGT00390000002049.
HOGENOMiHOG000007541.
HOVERGENiHBG050541.
InParanoidiQ8BVF7.
KOiK06172.
OMAiLLHTFWS.
OrthoDBiEOG091G0IH0.
PhylomeDBiQ8BVF7.
TreeFamiTF314362.

Family and domain databases

InterProiIPR009294. Aph-1.
[Graphical view]
PANTHERiPTHR12889. PTHR12889. 1 hit.
PfamiPF06105. Aph-1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8BVF7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGAAVFFGCT FVAFGPAFSL FLITVAGDPL RVIILVAGAF FWLVSLLLAS
60 70 80 90 100
VVWFILVHVT DRSDARLQYG LLIFGAAVSV LLQEVFRFAY YKLLKKADEG
110 120 130 140 150
LASLSEDGRS PISIRQMAYV SGLSFGIISG VFSVINILAD ALGPGVVGIH
160 170 180 190 200
GDSPYYFLTS AFLTAAIILL HTFWGVVFFD ACERRRYWAL GLVVGSHLLT
210 220 230 240 250
SGLTFLNPWY EASLLPIYAV TVSMGLWAFI TAGGSLRSIQ RSLSCRRQED
260
SRVMVYSALR IPPED
Length:265
Mass (Da):28,986
Last modified:September 26, 2003 - v2
Checksum:i1E37922A1DFAA92C
GO
Isoform 2 (identifier: Q8BVF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     246-247: RR → KD
     248-265: Missing.

Show »
Length:247
Mass (Da):26,830
Checksum:i47C86078DE8D7262
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008357246 – 247RR → KD in isoform 2. 2 Publications2
Alternative sequenceiVSP_008358248 – 265Missing in isoform 2. 2 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC012406 mRNA. Translation: AAH12406.1.
BC024111 mRNA. Translation: AAH24111.1.
AK078343 mRNA. Translation: BAC37228.1.
CCDSiCCDS17624.1. [Q8BVF7-2]
CCDS50999.1. [Q8BVF7-1]
RefSeqiNP_666216.1. NM_146104.3. [Q8BVF7-2]
NP_666246.1. NM_146134.2. [Q8BVF7-1]
UniGeneiMm.306954.
Mm.337825.
Mm.486756.

Genome annotation databases

EnsembliENSMUST00000015894; ENSMUSP00000015894; ENSMUSG00000015750. [Q8BVF7-2]
ENSMUST00000056710; ENSMUSP00000058846; ENSMUSG00000015750. [Q8BVF7-1]
GeneIDi226548.
KEGGimmu:226548.
UCSCiuc008qlq.2. mouse. [Q8BVF7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC012406 mRNA. Translation: AAH12406.1.
BC024111 mRNA. Translation: AAH24111.1.
AK078343 mRNA. Translation: BAC37228.1.
CCDSiCCDS17624.1. [Q8BVF7-2]
CCDS50999.1. [Q8BVF7-1]
RefSeqiNP_666216.1. NM_146104.3. [Q8BVF7-2]
NP_666246.1. NM_146134.2. [Q8BVF7-1]
UniGeneiMm.306954.
Mm.337825.
Mm.486756.

3D structure databases

ProteinModelPortaliQ8BVF7.
SMRiQ8BVF7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi230528. 14 interactors.
IntActiQ8BVF7. 1 interactor.
MINTiMINT-1176936.
STRINGi10090.ENSMUSP00000058846.

Protein family/group databases

TCDBi9.B.47.1.1. the -secretase (-secretase) family.

PTM databases

iPTMnetiQ8BVF7.
PhosphoSitePlusiQ8BVF7.

Proteomic databases

PaxDbiQ8BVF7.
PRIDEiQ8BVF7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000015894; ENSMUSP00000015894; ENSMUSG00000015750. [Q8BVF7-2]
ENSMUST00000056710; ENSMUSP00000058846; ENSMUSG00000015750. [Q8BVF7-1]
GeneIDi226548.
KEGGimmu:226548.
UCSCiuc008qlq.2. mouse. [Q8BVF7-1]

Organism-specific databases

CTDi51107.
MGIiMGI:2385110. Aph1a.

Phylogenomic databases

eggNOGiKOG3972. Eukaryota.
ENOG4111FIJ. LUCA.
GeneTreeiENSGT00390000002049.
HOGENOMiHOG000007541.
HOVERGENiHBG050541.
InParanoidiQ8BVF7.
KOiK06172.
OMAiLLHTFWS.
OrthoDBiEOG091G0IH0.
PhylomeDBiQ8BVF7.
TreeFamiTF314362.

Enzyme and pathway databases

ReactomeiR-MMU-1251985. Nuclear signaling by ERBB4.
R-MMU-193692. Regulated proteolysis of p75NTR.
R-MMU-1980148. Signaling by NOTCH3.
R-MMU-1980150. Signaling by NOTCH4.
R-MMU-205043. NRIF signals cell death from the nucleus.
R-MMU-2122948. Activated NOTCH1 Transmits Signal to the Nucleus.
R-MMU-3928665. EPH-ephrin mediated repulsion of cells.

Miscellaneous databases

PROiQ8BVF7.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000015750.
ExpressionAtlasiQ8BVF7. baseline and differential.
GenevisibleiQ8BVF7. MM.

Family and domain databases

InterProiIPR009294. Aph-1.
[Graphical view]
PANTHERiPTHR12889. PTHR12889. 1 hit.
PfamiPF06105. Aph-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAPH1A_MOUSE
AccessioniPrimary (citable) accession number: Q8BVF7
Secondary accession number(s): Q8R1T3, Q91VL5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: November 2, 2016
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.