Reviewed, UniProtKB/Swiss-Prot O45876 (APH1_CAEEL)

Names and origin

Protein names

Recommended name:
    Gamma-secretase subunit aph-1
Alternative name(s):
    Anterior-pharynx-defective protein 1
    Presenilin enhancer protein 1

Gene names

Name:	aph-1
Synonyms:	pen-1
ORF Names:	VF36H2L.1

Organism

Caenorhabditis elegans [Complete proteome]

Taxonomic identifier

6239 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Nematoda › Chromadorea › Rhabditida › Rhabditoidea › Rhabditidae › Peloderinae › Caenorhabditis

Protein attributes

Sequence length	308 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors (lin-12 or glp-1). It may represent a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Required for the localization of aph-2. Ref.1 Ref.2
Subunit structure	Component of the gamma-secretase complex, a complex probably composed of the presenilin homodimer (sel-12, hop-1 or spe-4), nicastrin (aph-2), aph-1 and pen-2 Probable.
Subcellular location	Membrane; Multi-pass membrane proteinPotential.
Sequence similarities	Belongs to the APH-1 family.

Ontologies

Keywords
Biological process	Notch signaling pathway
Cellular component	Membrane
Domain	Transmembrane
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	Notch signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW embryonic development ending in birth or egg hatching Ref.1 Inferred from mutant phenotype. Source: WormBase locomotion Inferred from mutant phenotype. Source: WormBase positive regulation of catalytic activity Inferred from electronic annotation. Source: InterPro positive regulation of growth rate Inferred from mutant phenotype. Source: WormBase protein processing Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: InterPro
Molecular function	protein binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 308	308	Gamma-secretase subunit aph-1		PRO_0000221057
Regions
	Transmembrane	5 – 25	21	1 Potential
	Transmembrane	32 – 52	21	2 Potential
	Transmembrane	53 – 73	21	3 Potential
	Transmembrane	122 – 142	21	4 Potential
	Transmembrane	170 – 190	21	5 Potential
	Transmembrane	200 – 220	21	6 Potential
	Transmembrane	230 – 250	21	7 Potential
Experimental info
	Mutagenesis	123	1	G → D in OR28; defects in localization of aph-2 Ref.1

Sequences

	Sequence		Length	Mass (Da)
	O45876-1 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 6A2ACA6247022B34	FASTA	308	33,548
	10 20 30 40 50 60 MGYLLTIACY IASFSPSIAL FCSFIAHDPV RIILFFLGSF FWLVSLLFSS LAWLGLSTVL 70 80 90 100 110 120 PDTFLLSLTV CIIAQELSRV AYFMLLKKAQ RGLNKITRQG QISVAPGVSD LHNARHMLAL 130 140 150 160 170 180 VCGLGMGVIS ALFYTMNAFA IFSGPGTIGL PNALKTGEID TNRAGKYLPL CYTLSAILLT 190 200 210 220 230 240 LFHVTWTIMV WDSCHKIGRI PSAFVPGAAA VVSHLLVTFL SSLNSRGFHV LVFAVQFLIL 250 260 270 280 290 300 LICIAYCNVI MGGTISSFVN GIGQSITDAV TLKQVRTLIE ERKLRTQRQS VPDEPMTERA GTSNTVNA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos." Goutte C., Tsunozaki M., Hale V.A., Priess J.R. Proc. Natl. Acad. Sci. U.S.A. 99:775-779(2002) [PubMed: 11792846] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, MUTAGENESIS OF GLY-123. Strain: Bristol N2. Tissue: Embryo.
[2]	"aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation." Francis R., McGrath G., Zhang J., Ruddy D.A., Sym M., Apfeld J., Nicoll M., Maxwell M., Hai B., Ellis M.C., Parks A.L., Xu W., Li J., Gurney M., Myers R.L., Himes C.S., Hiebsch R., Ruble C., Nye J.S., Curtis D. Dev. Cell 3:85-97(2002) [PubMed: 12110170] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION.
[3]	"Genome sequence of the nematode C. elegans: a platform for investigating biology." The C. elegans sequencing consortium Science 282:2012-2018(1998) [PubMed: 9851916] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: Bristol N2.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AL021466 Genomic DNA. Translation: CAA16282.1.
PIR	T26007.
RefSeq	NP_492469.1.
UniGene	Cel.16647
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	VF36H2L.1. Caenorhabditis elegans. [Contig view]
GeneID	172747.
KEGG	cel:VF36H2L.1.
NMPDR	fig|6239.3.peg.2452.
Organism-specific databases
WormBase	WBGene00000147. aph-1.
WormPep	VF36H2L.1. CE16526. [WorfDB]
Gene expression databases
ArrayExpress	O45876.
Family and domain databases
InterPro	IPR009294. Aph-1. [Graphical view]
PANTHER	PTHR12889. Aph-1. 1 hit.
Pfam	PF06105. Aph-1. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	876845.

Entry information

Entry name

APH1_CAEEL

Accession

Primary (citable) accession number: O45876

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2003
Last sequence update:	June 1, 1998
Last modified:	November 25, 2008
This is version 52 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

Caenorhabditis annotation project