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Protein

Ganglioside GM2 activator

Gene

GM2A

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

The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.By similarity

<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

Molecular functionHydrolase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-6798695 Neutrophil degranulation

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000476

<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:
Ganglioside GM2 activator
Alternative name(s):
Cerebroside sulfate activator protein
GM2-AP
Sphingolipid activator protein 3
Short name:
SAP-3
Cleaved into the following chain:
<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:GM2A
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196743.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4367 GM2A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613109 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P17900

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

GM2-gangliosidosis AB (GM2GAB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B.
See also OMIM:272750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01169788Missing in GM2GAB. 1 Publication1
Natural variantiVAR_006947138C → R in GM2GAB. 1 PublicationCorresponds to variant dbSNP:rs137852797EnsemblClinVar.1
Natural variantiVAR_011698169R → P in GM2GAB. 1 PublicationCorresponds to variant dbSNP:rs104893892EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Gangliosidosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
2760

MalaCards human disease database

More...
MalaCardsi
GM2A
MIMi272750 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000196743

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
309246 GM2 gangliosidosis, AB variant

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28752

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB04660 Choline alfoscerate
DB02325 Isopropyl Alcohol
DB03017 Lauric Acid
DB03633 Lpc-Ether
DB08231 MYRISTIC ACID
DB02261 Platelet Activating Factor

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GM2A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160331912

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003163924 – 311 Publication8
<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_000003164032 – 193Ganglioside GM2 activatorAdd BLAST162
ChainiPRO_000003164134 – 193Ganglioside GM2 activator isoform shortAdd BLAST160

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi39 ↔ 183
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi63N-linked (GlcNAc...) asparagine1
Disulfide bondi99 ↔ 106
Disulfide bondi112 ↔ 138
Disulfide bondi125 ↔ 136

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The serines in positions 32 and 33 are absent in 80% of the sequenced protein.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P17900

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P17900

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

More...
PaxDbi
P17900

PeptideAtlas

More...
PeptideAtlasi
P17900

PRoteomics IDEntifications database

More...
PRIDEi
P17900

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53524

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196743 Expressed in 239 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

More...
CleanExi
HS_GM2A

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P17900 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P17900 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA008063

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109022, 27 interactors

Protein interaction database and analysis system

More...
IntActi
P17900, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000349687

<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

1193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P17900

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

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SMRi
P17900

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P17900

<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

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IX9N Eukaryota
ENOG4111JSM LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000003288

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000031350

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000260

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P17900

KEGG Orthology (KO)

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KOi
K12383

Identification of Orthologs from Complete Genome Data

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OMAi
WLSTGNY

Database of Orthologous Groups

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OrthoDBi
EOG091G0VEB

Database for complete collections of gene phylogenies

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PhylomeDBi
P17900

TreeFam database of animal gene trees

More...
TreeFami
TF353575

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.70.220.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028996 GM2-AP
IPR036846 GM2-AP_sf
IPR003172 ML_dom

The PANTHER Classification System

More...
PANTHERi
PTHR17357 PTHR17357, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02221 E1_DerP2_DerF2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00737 ML, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF63707 SSF63707, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P17900-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQSLMQAPLL IALGLLLAAP AQAHLKKPSQ LSSFSWDNCD EGKDPAVIRS
60 70 80 90 100
LTLEPDPIIV PGNVTLSVMG STSVPLSSPL KVDLVLEKEV AGLWIKIPCT
110 120 130 140 150
DYIGSCTFEH FCDVLDMLIP TGEPCPEPLR TYGLPCHCPF KEGTYSLPKS
160 170 180 190
EFVVPDLELP SWLTTGNYRI ESVLSSSGKR LGCIKIAASL KGI
Length:193
Mass (Da):20,838
Last modified:November 13, 2007 - v4
<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:i4EB1119945365F7E
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RJD0E5RJD0_HUMAN
Ganglioside GM2 activator
GM2A
146Annotation 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>
H0YBY3H0YBY3_HUMAN
Ganglioside GM2 activator
GM2A
104Annotation 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 CAA43408 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAA43994 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti39C → R in BAG35396 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01383019A → T5 PublicationsCorresponds to variant dbSNP:rs1048719EnsemblClinVar.1
Natural variantiVAR_03689259I → V6 PublicationsCorresponds to variant dbSNP:rs153477EnsemblClinVar.1
Natural variantiVAR_03689369M → V7 PublicationsCorresponds to variant dbSNP:rs153478EnsemblClinVar.1
Natural variantiVAR_01169788Missing in GM2GAB. 1 Publication1
Natural variantiVAR_006947138C → R in GM2GAB. 1 PublicationCorresponds to variant dbSNP:rs137852797EnsemblClinVar.1
Natural variantiVAR_011698169R → P in GM2GAB. 1 PublicationCorresponds to variant dbSNP:rs104893892EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M76477 mRNA Translation: AAA35907.1
X62078 mRNA Translation: CAA43993.1
X62078 mRNA Translation: CAA43994.1 Different initiation.
X61095 mRNA Translation: CAA43408.1 Different initiation.
L01439 mRNA Translation: AAA52767.1
AF124719, AF124717, AF124718 Genomic DNA Translation: AAD25741.1
AK312494 mRNA Translation: BAG35396.1
AC008385 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW61680.1
CH471062 Genomic DNA Translation: EAW61681.1
BC009273 mRNA Translation: AAH09273.1
X16087 mRNA Translation: CAA34215.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4313.1

Protein sequence database of the Protein Information Resource

More...
PIRi
I54178
S13195
S22411

NCBI Reference Sequences

More...
RefSeqi
NP_000396.2, NM_000405.4

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.483873

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357164; ENSP00000349687; ENSG00000196743

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2760

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2760

UCSC genome browser

More...
UCSCi
uc003ltr.5 human

Keywords - Coding sequence diversityi

Polymorphism

<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
M76477 mRNA Translation: AAA35907.1
X62078 mRNA Translation: CAA43993.1
X62078 mRNA Translation: CAA43994.1 Different initiation.
X61095 mRNA Translation: CAA43408.1 Different initiation.
L01439 mRNA Translation: AAA52767.1
AF124719, AF124717, AF124718 Genomic DNA Translation: AAD25741.1
AK312494 mRNA Translation: BAG35396.1
AC008385 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW61680.1
CH471062 Genomic DNA Translation: EAW61681.1
BC009273 mRNA Translation: AAH09273.1
X16087 mRNA Translation: CAA34215.1
CCDSiCCDS4313.1
PIRiI54178
S13195
S22411
RefSeqiNP_000396.2, NM_000405.4
UniGeneiHs.483873

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1G13X-ray2.00A/B/C32-193[»]
1PU5X-ray1.90A/B/C32-193[»]
1PUBX-ray2.51A32-193[»]
1TJJX-ray2.00A/B/C32-193[»]
2AF9X-ray2.00A32-193[»]
2AG2X-ray2.00A/B/C32-193[»]
2AG4X-ray1.80A/B32-193[»]
2AG9X-ray2.20A/B32-193[»]
ProteinModelPortaliP17900
SMRiP17900
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109022, 27 interactors
IntActiP17900, 3 interactors
STRINGi9606.ENSP00000349687

Chemistry databases

DrugBankiDB04660 Choline alfoscerate
DB02325 Isopropyl Alcohol
DB03017 Lauric Acid
DB03633 Lpc-Ether
DB08231 MYRISTIC ACID
DB02261 Platelet Activating Factor
SwissLipidsiSLP:000000476

Polymorphism and mutation databases

BioMutaiGM2A
DMDMi160331912

Proteomic databases

EPDiP17900
MaxQBiP17900
PaxDbiP17900
PeptideAtlasiP17900
PRIDEiP17900
ProteomicsDBi53524

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2760
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357164; ENSP00000349687; ENSG00000196743
GeneIDi2760
KEGGihsa:2760
UCSCiuc003ltr.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2760
DisGeNETi2760
EuPathDBiHostDB:ENSG00000196743.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GM2A

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0005327
HGNCiHGNC:4367 GM2A
HPAiHPA008063
MalaCardsiGM2A
MIMi272750 phenotype
613109 gene
neXtProtiNX_P17900
OpenTargetsiENSG00000196743
Orphaneti309246 GM2 gangliosidosis, AB variant
PharmGKBiPA28752

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IX9N Eukaryota
ENOG4111JSM LUCA
GeneTreeiENSGT00390000003288
HOGENOMiHOG000031350
HOVERGENiHBG000260
InParanoidiP17900
KOiK12383
OMAiWLSTGNY
OrthoDBiEOG091G0VEB
PhylomeDBiP17900
TreeFamiTF353575

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

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

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ChiTaRSi
GM2A human
EvolutionaryTraceiP17900

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GM2A

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

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GenomeRNAii
2760

Protein Ontology

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PROi
PR:P17900

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000196743 Expressed in 239 organ(s), highest expression level in visceral pleura
CleanExiHS_GM2A
ExpressionAtlasiP17900 baseline and differential
GenevisibleiP17900 HS

Family and domain databases

Gene3Di2.70.220.10, 1 hit
InterProiView protein in InterPro
IPR028996 GM2-AP
IPR036846 GM2-AP_sf
IPR003172 ML_dom
PANTHERiPTHR17357 PTHR17357, 1 hit
PfamiView protein in Pfam
PF02221 E1_DerP2_DerF2, 1 hit
SMARTiView protein in SMART
SM00737 ML, 1 hit
SUPFAMiSSF63707 SSF63707, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiSAP3_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: P17900
Secondary accession number(s): B2R699
, D3DQH6, Q14426, Q14428, Q6LBL5
<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: November 1, 1990
Last sequence update: November 13, 2007
Last modified: November 7, 2018
This is version 185 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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