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Protein

Protein GAPT

Gene

GAPT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity).By similarity

GO - Biological processi

Keywordsi

Biological processB-cell activation

Names & Taxonomyi

Protein namesi
Recommended name:
Protein GAPT
Alternative name(s):
Growth factor receptor-bound protein 2-binding adapter protein, transmembrane
Gene namesi
Name:GAPT
Synonyms:C5orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000175857.8.
HGNCiHGNC:26588. GAPT.

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi139P → A: Abolishes interaction with GRB2. 1 Publication1
Mutagenesisi141P → A: Abolishes interaction with GRB2. 1 Publication1
Mutagenesisi145P → A: Abolishes interaction with GRB2. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000175857.
PharmGKBiPA164720193.

Polymorphism and mutation databases

BioMutaiGAPT.
DMDMi74728686.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002711231 – 157Protein GAPTAdd BLAST157

Proteomic databases

EPDiQ8N292.
PaxDbiQ8N292.
PeptideAtlasiQ8N292.
PRIDEiQ8N292.

PTM databases

iPTMnetiQ8N292.
PhosphoSitePlusiQ8N292.

Expressioni

Tissue specificityi

Highly expressed in spleen and PBL, detected at lower levels in thymus, and undetectable in all other tissues tested. Also expressed in various B-cell lines, monocytic cell line THP-1 and NK-like cell line YT, but not in T-cell line Jurkat or HeLa cells.1 Publication

Gene expression databases

BgeeiENSG00000175857.
CleanExiHS_GAPT.
ExpressionAtlasiQ8N292. baseline and differential.
GenevisibleiQ8N292. HS.

Organism-specific databases

HPAiHPA011070.

Interactioni

Subunit structurei

Interacts with GRB2.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000323075.

Structurei

3D structure databases

ProteinModelPortaliQ8N292.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GAPT family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J43U. Eukaryota.
ENOG4111803. LUCA.
GeneTreeiENSGT00390000011255.
HOGENOMiHOG000290679.
HOVERGENiHBG095160.
InParanoidiQ8N292.
OMAiCGIGCVW.
OrthoDBiEOG091G0YW4.
PhylomeDBiQ8N292.
TreeFamiTF338585.

Family and domain databases

InterProiView protein in InterPro
IPR021082. Protein_GAPT.
PfamiView protein in Pfam
PF11770. GAPT. 1 hit.
PRINTSiPR02077. PROTEINGAPT.

Sequencei

Sequence statusi: Complete.

Q8N292-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSKSCGNNLA AISVGISLLL LLVVCGIGCV WHWKHRVATR FTLPRFLQRR
60 70 80 90 100
SSRRKVCTKT FLGPRIIGLR HEISVETQDH KSAVRGNNTH DNYENVEAGP
110 120 130 140 150
PKAKGKTDKE LYENTGQSNF EEHIYGNETS SDYYNFQKPR PSEVPQDEDI

YILPDSY
Length:157
Mass (Da):17,883
Last modified:October 1, 2002 - v1
Checksum:i82AC4A3D6BDB7C5A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03367383A → T. Corresponds to variant dbSNP:rs35260984Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090960 mRNA. Translation: BAC03557.1.
BC063534 mRNA. Translation: AAH63534.1.
CCDSiCCDS3975.1.
RefSeqiNP_001291357.1. NM_001304428.1.
NP_001291358.1. NM_001304429.1.
NP_001291360.1. NM_001304431.1.
NP_689900.1. NM_152687.3.
UniGeneiHs.547697.

Genome annotation databases

EnsembliENST00000318469; ENSP00000323075; ENSG00000175857.
ENST00000396776; ENSP00000379997; ENSG00000175857.
GeneIDi202309.
KEGGihsa:202309.
UCSCiuc003jro.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGAPT_HUMAN
AccessioniPrimary (citable) accession number: Q8N292
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 1, 2002
Last modified: September 27, 2017
This is version 106 of the entry and version 1 of the sequence. See 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families