| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: 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. SUBUNIT: 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. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=L, Aph-alpha1; IsoId=Q96BI3-1; Sequence=Displayed; Name=2; Synonyms=S, Aph-alpha2; IsoId=Q96BI3-2; Sequence=VSP_008355, VSP_008356; TISSUE SPECIFICITY: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearly expressed at the same level. SIMILARITY: Belongs to the APH-1 family. SEQUENCE CAUTION: Sequence=AAD34072.1; Type=Frameshift; Positions=243; Sequence=AAN63816.1; Type=Frameshift; Positions=243; GENE SYNONYMS:APH1A PSF. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 265 AA; 28996 MW; 8E37984A1DECC263 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:29509,
urn:biopax:RelationshipXref:NCBI GENE_51107,
urn:biopax:RelationshipXref:REFSEQ_NP_001071096,
urn:biopax:RelationshipXref:REFSEQ_NP_001230700,
urn:biopax:RelationshipXref:REFSEQ_NP_001230701,
urn:biopax:RelationshipXref:REFSEQ_NP_057106,
urn:biopax:UnificationXref:UNIPROT_Q5TB23,
urn:biopax:UnificationXref:UNIPROT_Q969R6,
urn:biopax:UnificationXref:UNIPROT_Q96BI3,
urn:biopax:UnificationXref:UNIPROT_Q9BVG0,
urn:biopax:UnificationXref:UNIPROT_Q9Y386
|
| biopax3:displayName |
APH1A_HUMAN
|
| biopax3:name |
APH-1a,
APH1A,
Aph-1alpha,
Presenilin-stabilization factor
|
| biopax3:organism | |
| biopax3:sequence |
MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLASVVWFILVHVTDRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEGLASLSEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIHGDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQRSLLCRRQEDSRVMVYSALRIPPED
|
| biopax3:standardName |
Gamma-secretase subunit APH-1A
|