Q96BI3 (APH1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-secretase subunit APH-1A
Short name=APH-1a

Alternative name(s):
Aph-1alpha
Presenilin-stabilization factor

Gene names

Name:	APH1A
Synonyms:	PSF
ORF Names:	CGI-78, UNQ579/PRO1141

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	265 AA.
Sequence status	Complete.
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 and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Ref.1 Ref.10 Ref.12
Subunit structure	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. Ref.10 Ref.11 Ref.15
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. Ref.9
Sequence similarities	Belongs to the APH-1 family.
Sequence caution	The sequence AAD34072.1 differs from that shown. Reason: Frameshift at position 243. The sequence AAN63816.1 differs from that shown. Reason: Frameshift at position 243.

Ontologies

Keywords
Biological process	Notch signaling pathway
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Notch receptor processing Inferred from mutant phenotype Ref.1. Source: UniProtKB Notch signaling pathway Traceable author statement. Source: Reactome amyloid precursor protein catabolic process Inferred from mutant phenotype Ref.1. Source: UniProtKB apoptotic process Traceable author statement. Source: Reactome membrane protein ectodomain proteolysis Inferred from direct assay PubMed 15274632. Source: HGNC membrane protein intracellular domain proteolysis Inferred from mutant phenotype Ref.1. Source: UniProtKB metanephros development Inferred from electronic annotation. Source: Compara nerve growth factor receptor signaling pathway Traceable author statement. Source: Reactome positive regulation of catalytic activity Inferred from direct assay PubMed 15274632. Source: HGNC protein processing Inferred from direct assay PubMed 15274632. Source: HGNC
Cellular_component	Golgi apparatus Inferred from direct assay PubMed 15274632. Source: HGNC Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum Inferred from direct assay PubMed 15274632. Source: HGNC endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Inferred from direct assay PubMed 15274632. Source: HGNC
Molecular_function	endopeptidase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96BI3-1)

Also known as: L; Aph-alpha1;

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.

Isoform 2 (identifier: Q96BI3-2)

Also known as: S; Aph-alpha2;

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

Isoform 3 (identifier: Q96BI3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     39-120: AFFWLVSLLL...PISIRQMAYV → RCSALPTTSCLI

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 265	265	Gamma-secretase subunit APH-1A		PRO_0000221050
Regions
	Topological domain	1 – 2	2	Lumenal Potential
	Transmembrane	3 – 23	21	Helical; Name=1; Potential
	Topological domain	24 – 31	8	Cytoplasmic Potential
	Transmembrane	32 – 52	21	Helical; Name=2; Potential
	Topological domain	53 – 68	16	Lumenal Potential
	Transmembrane	69 – 89	21	Helical; Name=3; Potential
	Topological domain	90 – 118	29	Cytoplasmic Potential
	Transmembrane	119 – 139	21	Helical; Name=4; Potential
	Topological domain	140 – 158	19	Lumenal Potential
	Transmembrane	159 – 179	21	Helical; Name=5; Potential
	Topological domain	180 – 186	7	Cytoplasmic Potential
	Transmembrane	187 – 207	21	Helical; Name=6; Potential
	Topological domain	208 – 213	6	Lumenal Potential
	Transmembrane	214 – 234	21	Helical; Name=7; Potential
	Topological domain	235 – 265	31	Cytoplasmic Potential
Natural variations
	Alternative sequence	39 – 120	82	AFFWL…QMAYV → RCSALPTTSCLI in isoform 3.		VSP_045424
	Alternative sequence	246 – 247	2	RR → KD in isoform 2.		VSP_008355
	Alternative sequence	248 – 265	18	Missing in isoform 2.		VSP_008356
Experimental info
	Sequence conflict	236	1	L → I in AAH01230. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (L) (Aph-alpha1) [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 8E37984A1DECC263	FASTA	265	28,996
	10 20 30 40 50 60 MGAAVFFGCT FVAFGPAFAL FLITVAGDPL RVIILVAGAF FWLVSLLLAS VVWFILVHVT 70 80 90 100 110 120 DRSDARLQYG LLIFGAAVSV LLQEVFRFAY YKLLKKADEG LASLSEDGRS PISIRQMAYV 130 140 150 160 170 180 SGLSFGIISG VFSVINILAD ALGPGVVGIH GDSPYYFLTS AFLTAAIILL HTFWGVVFFD 190 200 210 220 230 240 ACERRRYWAL GLVVGSHLLT SGLTFLNPWY EASLLPIYAV TVSMGLWAFI TAGGSLRSIQ 250 260 RSLLCRRQED SRVMVYSALR IPPED
	Isoform 2 (S) (Aph-alpha2) [UniParc]. Checksum: 8EECF2236C1EA4A0	FASTA	247	26,840
	10 20 30 40 50 60 MGAAVFFGCT FVAFGPAFAL FLITVAGDPL RVIILVAGAF FWLVSLLLAS VVWFILVHVT 70 80 90 100 110 120 DRSDARLQYG LLIFGAAVSV LLQEVFRFAY YKLLKKADEG LASLSEDGRS PISIRQMAYV 130 140 150 160 170 180 SGLSFGIISG VFSVINILAD ALGPGVVGIH GDSPYYFLTS AFLTAAIILL HTFWGVVFFD 190 200 210 220 230 240 ACERRRYWAL GLVVGSHLLT SGLTFLNPWY EASLLPIYAV TVSMGLWAFI TAGGSLRSIQ RSLLCKD
	Isoform 3 [UniParc]. Checksum: A6D104A120AEBFA2	FASTA	195	20,977
	10 20 30 40 50 60 MGAAVFFGCT FVAFGPAFAL FLITVAGDPL RVIILVAGRC SALPTTSCLI SGLSFGIISG 70 80 90 100 110 120 VFSVINILAD ALGPGVVGIH GDSPYYFLTS AFLTAAIILL HTFWGVVFFD ACERRRYWAL 130 140 150 160 170 180 GLVVGSHLLT SGLTFLNPWY EASLLPIYAV TVSMGLWAFI TAGGSLRSIQ RSLLCRRQED 190 SRVMVYSALR IPPED

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch." Lee S.-F., Shah S., Li H., Yu C., Han W., Yu G. J. Biol. Chem. 277:45013-45019(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH PSEN1; PSEN2 AND NCSTN. Tissue: Glioblastoma.
[2]	"PSF is essential for gamma-secretase activity and stabilization of presenilin and nicastrin." Lee H.-J., Kim T.-W. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[3]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Retinoblastoma and Thyroid.
[6]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Adrenal gland, Brain, Cervix, Eye, Glial tumor and Lung.
[9]	"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] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[10]	"PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1." Luo W.-J., Wang H., Li H., Kim B.S., Shah S., Lee H.-J., Thinakaran G., Kim T.-W., Yu G., Xu H. J. Biol. Chem. 278:7850-7854(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, FUNCTION.
[11]	"APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes." Gu Y., Chen F., Sanjo N., Kawarai T., Hasegawa H., Duthie M., Li W., Ruan X., Luthra A., Mount H.T.J., Tandon A., Fraser P.E., St George-Hyslop P.H. J. Biol. Chem. 278:7374-7380(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH PSEN1.
[12]	"APH1, PEN2, and nicastrin increase Abeta levels and gamma-secretase activity." Marlow L., Canet R.M., Haugabook S.J., Hardy J.A., Lahiri D.K., Sambamurti K. Biochem. Biophys. Res. Commun. 305:502-509(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN THE GAMMA-SECRETASE COMPLEX.
[13]	"Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2." Kimberly W.T., LaVoie M.J., Ostaszewski B.L., Ye W., Wolfe M.S., Selkoe D.J. Proc. Natl. Acad. Sci. U.S.A. 100:6382-6387(2003) [PubMed] [Europe PMC] [Abstract] Cited for: COMPONENT OF A GAMMA-SECRETASE COMPLEX WITH PEN2; PSEN1/PSEN2 AND NCSTN.
[14]	"Reconstitution of gamma-secretase activity." Edbauer D., Winkler E., Regula J.T., Pesold B., Steiner H., Haass C. Nat. Cell Biol. 5:486-488(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ENZYME ACTIVITY OF A GAMMA-SECRETASE COMPLEX.
[15]	"Membrane topology and nicastrin-enhanced endoproteolysis of APH-1, a component of the gamma-secretase complex." Fortna R.R., Crystal A.S., Morais V.A., Pijak D.S., Lee V.M., Doms R.W. J. Biol. Chem. 279:3685-3693(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF508787 mRNA. Translation: AAN63816.1. Frameshift. AY113698 mRNA. Translation: AAM61955.1. AY113699 mRNA. Translation: AAM61956.1. AF151835 mRNA. Translation: AAD34072.1. Frameshift. AY358951 mRNA. Translation: AAQ89310.1. AK027879 mRNA. Translation: BAG51389.1. AK075295 mRNA. Translation: BAC11529.1. AK298832 mRNA. Translation: BAG60962.1. AL138795 Genomic DNA. Translation: CAI22811.1. AL138795 Genomic DNA. Translation: CAI22812.1. CH471121 Genomic DNA. Translation: EAW53565.1. CH471121 Genomic DNA. Translation: EAW53566.1. CH471121 Genomic DNA. Translation: EAW53567.1. BC001230 mRNA. Translation: AAH01230.1. BC008732 mRNA. Translation: AAH08732.1. BC009501 mRNA. Translation: AAH09501.1. BC015568 mRNA. Translation: AAH15568.1. BC017699 mRNA. Translation: AAH17699.1. BC020590 mRNA. Translation: AAH20590.1.
IPI	IPI00059964. IPI00844196.
RefSeq	NP_001071096.1. NM_001077628.2. NP_001230700.1. NM_001243771.1. NP_001230701.1. NM_001243772.1. NP_057106.2. NM_016022.3.
UniGene	Hs.108408. Hs.735911.
3D structure databases
ProteinModelPortal	Q96BI3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96BI3. 12 interactions.
STRING	9606.ENSP00000358105.
PTM databases
PhosphoSite	Q96BI3.
Polymorphism databases
DMDM	37077707.
Proteomic databases
PaxDb	Q96BI3.
PRIDE	Q96BI3.
Protocols and materials databases
DNASU	51107.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360244; ENSP00000353380; ENSG00000117362. ENST00000369109; ENSP00000358105; ENSG00000117362. ENST00000414276; ENSP00000397473; ENSG00000117362. ENST00000581822; ENSP00000464062; ENSG00000266334. ENST00000582205; ENSP00000463082; ENSG00000266334. ENST00000584744; ENSP00000464506; ENSG00000266334.
GeneID	51107.
KEGG	hsa:51107.
UCSC	uc001ety.2. human.
Organism-specific databases
CTD	51107.
GeneCards	GC01M150237.
HGNC	HGNC:29509. APH1A.
HPA	CAB037272.
MIM	607629. gene.
neXtProt	NX_Q96BI3.
PharmGKB	PA142672599.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG300477.
HOGENOM	HOG000007541.
HOVERGEN	HBG050541.
InParanoid	Q96BI3.
KO	K06172.
OMA	FIAFGPP.
OrthoDB	EOG4K6G55.
PhylomeDB	Q96BI3.
Enzyme and pathway databases
Pathway_Interaction_DB	p75ntrpathway. p75(NTR)-mediated signaling. ps1pathway. Presenilin action in Notch and Wnt signaling. syndecan_3_pathway. Syndecan-3-mediated signaling events.
Reactome	REACT_111102. Signal Transduction. REACT_691. A third proteolytic cleavage releases NICD.
Gene expression databases
ArrayExpress	Q96BI3.
Bgee	Q96BI3.
CleanEx	HS_APH1A.
Genevestigator	Q96BI3.
GermOnline	ENSG00000117362. Homo sapiens.
Family and domain databases
InterPro	IPR009294. Aph-1. [Graphical view]
PANTHER	PTHR12889. PTHR12889. 1 hit.
Pfam	PF06105. Aph-1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q96BI3.
ChEMBL	CHEMBL2362.
GenomeRNAi	51107.
NextBio	53845.
SOURCE	Search...

Entry information

Entry name

APH1A_HUMAN

Accession

Primary (citable) accession number: Q96BI3
Secondary accession number(s): B4DQK0 , Q5TB22, Q5TB23, Q969R6, Q9BVG0, Q9Y386

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2003
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 107 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.