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Entry version 163 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Gamma-secretase subunit APH-1A

Gene

APH1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12763021, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Required for normal gamma-secretase assembly (PubMed:12522139, PubMed:12471034, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable).Curated9 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processNotch signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
R-HSA-977225 Amyloid fiber formation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q96BI3

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96BI3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gamma-secretase subunit APH-1A
Short name:
APH-1a
Alternative name(s):
Aph-1alpha
Presenilin-stabilization factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:APH1A
Synonyms:PSF
ORF Names:CGI-78, UNQ579/PRO1141
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29509 APH1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607629 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96BI3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 2Lumenal1 Publication1 Publication2
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei3 – 23Helical; Name=11 PublicationAdd BLAST21
Topological domaini24 – 31Cytoplasmic1 Publication1 Publication8
Transmembranei32 – 52Helical; Name=21 PublicationAdd BLAST21
Topological domaini53 – 68Lumenal1 Publication1 PublicationAdd BLAST16
Transmembranei69 – 89Helical; Name=31 PublicationAdd BLAST21
Topological domaini90 – 118Cytoplasmic1 Publication1 PublicationAdd BLAST29
Transmembranei119 – 139Helical; Name=41 PublicationAdd BLAST21
Topological domaini140 – 158Lumenal1 Publication1 PublicationAdd BLAST19
Transmembranei159 – 179Helical; Name=51 PublicationAdd BLAST21
Topological domaini180 – 186Cytoplasmic1 Publication1 Publication7
Transmembranei187 – 207Helical; Name=61 PublicationAdd BLAST21
Topological domaini208 – 213Lumenal1 Publication1 Publication6
Transmembranei214 – 234Helical; Name=71 PublicationAdd BLAST21
Topological domaini235 – 265Cytoplasmic1 Publication1 PublicationAdd BLAST31

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi171H → A: Impaired gamma-secretease assembly and reduced proteolytic activity of the gamma-secretase complex. 1 Publication1
Mutagenesisi197H → A: Impaired gamma-secretease assembly and reduced proteolytic activity of the gamma-secretase complex. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
51107

Open Targets

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OpenTargetsi
ENSG00000117362

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672599

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96BI3

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2094135

Drug and drug target database

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DrugBanki
DB05171 E-2012

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
APH1A

Domain mapping of disease mutations (DMDM)

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DMDMi
37077707

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002210501 – 265Gamma-secretase subunit APH-1AAdd BLAST265

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96BI3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96BI3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96BI3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96BI3

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96BI3

PeptideAtlas

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PeptideAtlasi
Q96BI3

PRoteomics IDEntifications database

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PRIDEi
Q96BI3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
4885
76078 [Q96BI3-1]
76079 [Q96BI3-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q96BI3-2 [Q96BI3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96BI3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96BI3

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96BI3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000117362 Expressed in 225 organ(s), highest expression level in skin of abdomen

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96BI3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96BI3 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB037272

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN/PEN2 (PubMed:12297508, PubMed:12740439, PubMed:19369254, PubMed:25043039, PubMed:26623517, PubMed:26280335, PubMed:30598546, PubMed:30630874).

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
NCSTNQ925424EBI-2606935,EBI-998440

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119296, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2176 Gamma-secretase complex, APH1A-PSEN1 variant
CPX-4231 Gamma-secretase complex, APH1A-PSEN2 variant

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96BI3

Database of interacting proteins

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DIPi
DIP-44671N

Protein interaction database and analysis system

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IntActi
Q96BI3, 35 interactors

Molecular INTeraction database

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MINTi
Q96BI3

STRING: functional protein association networks

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STRINGi
9606.ENSP00000358105

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q96BI3

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1265
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96BI3

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the APH-1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3972 Eukaryota
ENOG4111FIJ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000002049

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007541

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96BI3

KEGG Orthology (KO)

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KOi
K06172

Identification of Orthologs from Complete Genome Data

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OMAi
FFNAFDT

Database of Orthologous Groups

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OrthoDBi
1085102at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96BI3

TreeFam database of animal gene trees

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TreeFami
TF314362

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009294 Aph-1

The PANTHER Classification System

More...
PANTHERi
PTHR12889 PTHR12889, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06105 Aph-1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96BI3-1) [UniParc]FASTAAdd to basket
Also known as: L, Aph-alpha1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5TB21Q5TB21_HUMAN
Anterior pharynx defective 1 homolo...
APH1A RP4-790G17.3-008
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD34072 differs from that shown. Reason: Frameshift.Curated
The sequence AAN63816 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti236L → I in AAH01230 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04542439 – 120AFFWL…QMAYV → RCSALPTTSCLI in isoform 3. 1 PublicationAdd BLAST82
Alternative sequenceiVSP_008355246 – 247RR → KD in isoform 2. 5 Publications2
Alternative sequenceiVSP_008356248 – 265Missing in isoform 2. 5 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS41390.1 [Q96BI3-1]
CCDS41391.1 [Q96BI3-2]
CCDS58025.1 [Q96BI3-3]

NCBI Reference Sequences

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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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000360244; ENSP00000353380; ENSG00000117362 [Q96BI3-2]
ENST00000369109; ENSP00000358105; ENSG00000117362 [Q96BI3-1]
ENST00000414276; ENSP00000397473; ENSG00000117362 [Q96BI3-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51107

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51107

UCSC genome browser

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UCSCi
uc001ety.3 human [Q96BI3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5A63electron microscopy3.40C1-265[»]
5FN2electron microscopy4.20C1-265[»]
5FN3electron microscopy4.10C1-265[»]
5FN4electron microscopy4.00C1-265[»]
5FN5electron microscopy4.30C1-265[»]
6IDFelectron microscopy2.70C1-265[»]
6IYCelectron microscopy2.60C1-265[»]
SMRiQ96BI3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119296, 23 interactors
ComplexPortaliCPX-2176 Gamma-secretase complex, APH1A-PSEN1 variant
CPX-4231 Gamma-secretase complex, APH1A-PSEN2 variant
CORUMiQ96BI3
DIPiDIP-44671N
IntActiQ96BI3, 35 interactors
MINTiQ96BI3
STRINGi9606.ENSP00000358105

Chemistry databases

BindingDBiQ96BI3
ChEMBLiCHEMBL2094135
DrugBankiDB05171 E-2012

PTM databases

iPTMnetiQ96BI3
PhosphoSitePlusiQ96BI3
SwissPalmiQ96BI3

Polymorphism and mutation databases

BioMutaiAPH1A
DMDMi37077707

Proteomic databases

EPDiQ96BI3
jPOSTiQ96BI3
MassIVEiQ96BI3
MaxQBiQ96BI3
PaxDbiQ96BI3
PeptideAtlasiQ96BI3
PRIDEiQ96BI3
ProteomicsDBi4885
76078 [Q96BI3-1]
76079 [Q96BI3-2]
TopDownProteomicsiQ96BI3-2 [Q96BI3-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
51107

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51107
DisGeNETi51107

GeneCards: human genes, protein and diseases

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GeneCardsi
APH1A
HGNCiHGNC:29509 APH1A
HPAiCAB037272
MIMi607629 gene
neXtProtiNX_Q96BI3
OpenTargetsiENSG00000117362
PharmGKBiPA142672599

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3972 Eukaryota
ENOG4111FIJ LUCA
GeneTreeiENSGT00390000002049
HOGENOMiHOG000007541
InParanoidiQ96BI3
KOiK06172
OMAiFFNAFDT
OrthoDBi1085102at2759
PhylomeDBiQ96BI3
TreeFamiTF314362

Enzyme and pathway databases

ReactomeiR-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
R-HSA-977225 Amyloid fiber formation
SignaLinkiQ96BI3
SIGNORiQ96BI3

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
APH1A human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
51107
PharosiQ96BI3

Protein Ontology

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PROi
PR:Q96BI3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117362 Expressed in 225 organ(s), highest expression level in skin of abdomen
ExpressionAtlasiQ96BI3 baseline and differential
GenevisibleiQ96BI3 HS

Family and domain databases

InterProiView protein in InterPro
IPR009294 Aph-1
PANTHERiPTHR12889 PTHR12889, 1 hit
PfamiView protein in Pfam
PF06105 Aph-1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAPH1A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96BI3
Secondary accession number(s): B4DQK0
, Q5TB22, Q5TB23, Q969R6, Q9BVG0, Q9Y386
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 163 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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