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Q96BI3

- APH1A_HUMAN

UniProt

Q96BI3 - APH1A_HUMAN

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Protein

Gamma-secretase subunit APH-1A

Gene

APH1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein 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.3 Publications

GO - Molecular functioni

  1. endopeptidase activity Source: Ensembl

GO - Biological processi

  1. amyloid precursor protein catabolic process Source: UniProtKB
  2. apoptotic signaling pathway Source: Reactome
  3. membrane protein ectodomain proteolysis Source: HGNC
  4. membrane protein intracellular domain proteolysis Source: UniProtKB
  5. metanephros development Source: Ensembl
  6. neurotrophin TRK receptor signaling pathway Source: Reactome
  7. Notch receptor processing Source: UniProtKB
  8. Notch signaling pathway Source: Reactome
  9. positive regulation of apoptotic process Source: Reactome
  10. positive regulation of catalytic activity Source: HGNC
  11. protein processing Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Notch signaling pathway

Enzyme and pathway databases

ReactomeiREACT_116022. Nuclear signaling by ERBB4.
REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_118636. Signaling by NOTCH4.
REACT_118862. Signaling by NOTCH3.
REACT_13443. Regulated proteolysis of p75NTR.
REACT_13643. NRIF signals cell death from the nucleus.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SignaLinkiQ96BI3.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-secretase subunit APH-1A
Short name:
APH-1a
Alternative name(s):
Aph-1alpha
Presenilin-stabilization factor
Gene namesi
Name:APH1A
Synonyms:PSF
ORF Names:CGI-78, UNQ579/PRO1141
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:29509. APH1A.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatusGolgi stack membrane; Multi-pass membrane protein
Note: Predominantly located in the endoplasmic reticulum and in the cis-Golgi.

GO - Cellular componenti

  1. endoplasmic reticulum Source: HGNC
  2. Golgi apparatus Source: HGNC
  3. integral component of plasma membrane Source: HGNC
  4. membrane Source: UniProtKB
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672599.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 265265Gamma-secretase subunit APH-1APRO_0000221050Add
BLAST

Proteomic databases

MaxQBiQ96BI3.
PaxDbiQ96BI3.
PRIDEiQ96BI3.

PTM databases

PhosphoSiteiQ96BI3.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiQ96BI3.
CleanExiHS_APH1A.
ExpressionAtlasiQ96BI3. baseline and differential.
GenevestigatoriQ96BI3.

Organism-specific databases

HPAiCAB037272.

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.

Binary interactionsi

WithEntry#Exp.IntActNotes
NCSTNQ925423EBI-2606935,EBI-998440

Protein-protein interaction databases

BioGridi119296. 18 interactions.
IntActiQ96BI3. 16 interactions.
STRINGi9606.ENSP00000358105.

Structurei

3D structure databases

ProteinModelPortaliQ96BI3.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 22LumenalSequence Analysis
Topological domaini24 – 318CytoplasmicSequence Analysis
Topological domaini53 – 6816LumenalSequence AnalysisAdd
BLAST
Topological domaini90 – 11829CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini140 – 15819LumenalSequence AnalysisAdd
BLAST
Topological domaini180 – 1867CytoplasmicSequence Analysis
Topological domaini208 – 2136LumenalSequence Analysis
Topological domaini235 – 26531CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei3 – 2321Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei32 – 5221Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei69 – 8921Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei119 – 13921Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei159 – 17921Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei187 – 20721Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei214 – 23421Helical; Name=7Sequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the APH-1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG300477.
GeneTreeiENSGT00390000002049.
HOGENOMiHOG000007541.
HOVERGENiHBG050541.
InParanoidiQ96BI3.
KOiK06172.
OMAiFIAFGPP.
PhylomeDBiQ96BI3.
TreeFamiTF314362.

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96BI3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGAAVFFGCT FVAFGPAFAL 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 RSLLCRRQED
260
SRVMVYSALR IPPED
Length:265
Mass (Da):28,996
Last modified:December 1, 2001 - v1
Checksum:i8E37984A1DECC263
GO
Isoform 2 (identifier: Q96BI3-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:247
Mass (Da):26,840
Checksum:i8EECF2236C1EA4A0
GO
Isoform 3 (identifier: Q96BI3-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:195
Mass (Da):20,977
Checksum:iA6D104A120AEBFA2
GO

Sequence cautioni

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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti236 – 2361L → I in AAH01230. (PubMed:15489334)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei39 – 12082AFFWL…QMAYV → RCSALPTTSCLI in isoform 3. 1 PublicationVSP_045424Add
BLAST
Alternative sequencei246 – 2472RR → KD in isoform 2. 5 PublicationsVSP_008355
Alternative sequencei248 – 26518Missing in isoform 2. 5 PublicationsVSP_008356Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS41390.1. [Q96BI3-1]
CCDS41391.1. [Q96BI3-2]
CCDS58025.1. [Q96BI3-3]
RefSeqiNP_001071096.1. NM_001077628.2. [Q96BI3-1]
NP_001230700.1. NM_001243771.1.
NP_001230701.1. NM_001243772.1. [Q96BI3-3]
NP_057106.2. NM_016022.3. [Q96BI3-2]
UniGeneiHs.108408.
Hs.735911.

Genome annotation databases

EnsembliENST00000360244; ENSP00000353380; ENSG00000117362. [Q96BI3-2]
ENST00000369109; ENSP00000358105; ENSG00000117362. [Q96BI3-1]
ENST00000414276; ENSP00000397473; ENSG00000117362. [Q96BI3-3]
GeneIDi51107.
KEGGihsa:51107.
UCSCiuc001ety.2. human. [Q96BI3-1]
uc001etz.2. human. [Q96BI3-2]
uc010pbx.2. human.

Polymorphism databases

DMDMi37077707.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS41390.1. [Q96BI3-1 ]
CCDS41391.1. [Q96BI3-2 ]
CCDS58025.1. [Q96BI3-3 ]
RefSeqi NP_001071096.1. NM_001077628.2. [Q96BI3-1 ]
NP_001230700.1. NM_001243771.1.
NP_001230701.1. NM_001243772.1. [Q96BI3-3 ]
NP_057106.2. NM_016022.3. [Q96BI3-2 ]
UniGenei Hs.108408.
Hs.735911.

3D structure databases

ProteinModelPortali Q96BI3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119296. 18 interactions.
IntActi Q96BI3. 16 interactions.
STRINGi 9606.ENSP00000358105.

Chemistry

BindingDBi Q96BI3.
ChEMBLi CHEMBL2094135.

PTM databases

PhosphoSitei Q96BI3.

Polymorphism databases

DMDMi 37077707.

Proteomic databases

MaxQBi Q96BI3.
PaxDbi Q96BI3.
PRIDEi Q96BI3.

Protocols and materials databases

DNASUi 51107.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360244 ; ENSP00000353380 ; ENSG00000117362 . [Q96BI3-2 ]
ENST00000369109 ; ENSP00000358105 ; ENSG00000117362 . [Q96BI3-1 ]
ENST00000414276 ; ENSP00000397473 ; ENSG00000117362 . [Q96BI3-3 ]
GeneIDi 51107.
KEGGi hsa:51107.
UCSCi uc001ety.2. human. [Q96BI3-1 ]
uc001etz.2. human. [Q96BI3-2 ]
uc010pbx.2. human.

Organism-specific databases

CTDi 51107.
GeneCardsi GC01M150237.
HGNCi HGNC:29509. APH1A.
HPAi CAB037272.
MIMi 607629. gene.
neXtProti NX_Q96BI3.
PharmGKBi PA142672599.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG300477.
GeneTreei ENSGT00390000002049.
HOGENOMi HOG000007541.
HOVERGENi HBG050541.
InParanoidi Q96BI3.
KOi K06172.
OMAi FIAFGPP.
PhylomeDBi Q96BI3.
TreeFami TF314362.

Enzyme and pathway databases

Reactomei REACT_116022. Nuclear signaling by ERBB4.
REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_118636. Signaling by NOTCH4.
REACT_118862. Signaling by NOTCH3.
REACT_13443. Regulated proteolysis of p75NTR.
REACT_13643. NRIF signals cell death from the nucleus.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SignaLinki Q96BI3.

Miscellaneous databases

GenomeRNAii 51107.
NextBioi 53845.
PROi Q96BI3.
SOURCEi Search...

Gene expression databases

Bgeei Q96BI3.
CleanExi HS_APH1A.
ExpressionAtlasi Q96BI3. baseline and differential.
Genevestigatori Q96BI3.

Family and domain databases

InterProi IPR009294. Aph-1.
[Graphical view ]
PANTHERi PTHR12889. PTHR12889. 1 hit.
Pfami PF06105. Aph-1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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.

Entry informationi

Entry nameiAPH1A_HUMAN
AccessioniPrimary (citable) accession number: Q96BI3
Secondary accession number(s): B4DQK0
, Q5TB22, Q5TB23, Q969R6, Q9BVG0, Q9Y386
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3