GAPT_HUMAN
ID GAPT_HUMAN Reviewed; 157 AA.
AC Q8N292;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Protein GAPT;
DE AltName: Full=Growth factor receptor-bound protein 2-binding adapter protein, transmembrane;
GN Name=GAPT; Synonyms=C5orf29;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH GRB2, SUBCELLULAR LOCATION,
RP TISSUE SPECIFICITY, AND MUTAGENESIS OF PRO-139; PRO-141 AND PRO-145.
RC TISSUE=B-cell lymphoma;
RX PubMed=18559951; DOI=10.1189/jlb.0208087;
RA Liu Y., Zhang W.;
RT "Identification of a new transmembrane adaptor protein that constitutively
RT binds Grb2 in B cells.";
RL J. Leukoc. Biol. 84:842-851(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Negatively regulates B-cell proliferation following
CC stimulation through the B-cell receptor. May play an important role in
CC maintenance of marginal zone (MZ) B-cells (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with GRB2. {ECO:0000269|PubMed:18559951}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18559951};
CC Single-pass membrane protein {ECO:0000269|PubMed:18559951}.
CC -!- TISSUE SPECIFICITY: Highly expressed in spleen and PBL, detected at
CC lower levels in thymus, and undetectable in all other tissues tested.
CC Also expressed in various B-cell lines, monocytic cell line THP-1 and
CC NK-like cell line YT, but not in T-cell line Jurkat or HeLa cells.
CC {ECO:0000269|PubMed:18559951}.
CC -!- SIMILARITY: Belongs to the GAPT family. {ECO:0000305}.
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DR EMBL; AK090960; BAC03557.1; -; mRNA.
DR EMBL; BC063534; AAH63534.1; -; mRNA.
DR CCDS; CCDS3975.1; -.
DR RefSeq; NP_001291357.1; NM_001304428.1.
DR RefSeq; NP_001291358.1; NM_001304429.1.
DR RefSeq; NP_001291360.1; NM_001304431.1.
DR RefSeq; NP_689900.1; NM_152687.3.
DR AlphaFoldDB; Q8N292; -.
DR SMR; Q8N292; -.
DR STRING; 9606.ENSP00000379997; -.
DR iPTMnet; Q8N292; -.
DR PhosphoSitePlus; Q8N292; -.
DR BioMuta; GAPT; -.
DR DMDM; 74728686; -.
DR EPD; Q8N292; -.
DR jPOST; Q8N292; -.
DR MassIVE; Q8N292; -.
DR PaxDb; Q8N292; -.
DR PeptideAtlas; Q8N292; -.
DR PRIDE; Q8N292; -.
DR ProteomicsDB; 71669; -.
DR Antibodypedia; 2638; 85 antibodies from 15 providers.
DR DNASU; 202309; -.
DR Ensembl; ENST00000318469.2; ENSP00000323075.2; ENSG00000175857.9.
DR Ensembl; ENST00000396776.6; ENSP00000379997.2; ENSG00000175857.9.
DR Ensembl; ENST00000502276.6; ENSP00000423113.2; ENSG00000175857.9.
DR Ensembl; ENST00000511930.2; ENSP00000422645.2; ENSG00000175857.9.
DR Ensembl; ENST00000513924.2; ENSP00000508387.1; ENSG00000175857.9.
DR Ensembl; ENST00000515443.2; ENSP00000507091.1; ENSG00000175857.9.
DR GeneID; 202309; -.
DR KEGG; hsa:202309; -.
DR MANE-Select; ENST00000502276.6; ENSP00000423113.2; NM_001304431.2; NP_001291360.1.
DR UCSC; uc003jro.2; human.
DR CTD; 202309; -.
DR DisGeNET; 202309; -.
DR GeneCards; GAPT; -.
DR HGNC; HGNC:26588; GAPT.
DR HPA; ENSG00000175857; Group enriched (bone marrow, lymphoid tissue).
DR neXtProt; NX_Q8N292; -.
DR OpenTargets; ENSG00000175857; -.
DR PharmGKB; PA164720193; -.
DR VEuPathDB; HostDB:ENSG00000175857; -.
DR eggNOG; ENOG502TKNI; Eukaryota.
DR GeneTree; ENSGT00390000011255; -.
DR HOGENOM; CLU_1668861_0_0_1; -.
DR InParanoid; Q8N292; -.
DR OMA; WHWKHRN; -.
DR OrthoDB; 1524349at2759; -.
DR PhylomeDB; Q8N292; -.
DR TreeFam; TF338585; -.
DR PathwayCommons; Q8N292; -.
DR SignaLink; Q8N292; -.
DR BioGRID-ORCS; 202309; 13 hits in 1056 CRISPR screens.
DR ChiTaRS; GAPT; human.
DR GenomeRNAi; 202309; -.
DR Pharos; Q8N292; Tbio.
DR PRO; PR:Q8N292; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8N292; protein.
DR Bgee; ENSG00000175857; Expressed in monocyte and 101 other tissues.
DR ExpressionAtlas; Q8N292; baseline and differential.
DR Genevisible; Q8N292; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0001782; P:B cell homeostasis; IBA:GO_Central.
DR GO; GO:0002322; P:B cell proliferation involved in immune response; IBA:GO_Central.
DR InterPro; IPR021082; Protein_GAPT.
DR PANTHER; PTHR37350; PTHR37350; 1.
DR Pfam; PF11770; GAPT; 1.
DR PRINTS; PR02077; PROTEINGAPT.
PE 1: Evidence at protein level;
KW B-cell activation; Cell membrane; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..157
FT /note="Protein GAPT"
FT /id="PRO_0000271123"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 78..108
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 83
FT /note="A -> T (in dbSNP:rs35260984)"
FT /id="VAR_033673"
FT MUTAGEN 139
FT /note="P->A: Abolishes interaction with GRB2."
FT /evidence="ECO:0000269|PubMed:18559951"
FT MUTAGEN 141
FT /note="P->A: Abolishes interaction with GRB2."
FT /evidence="ECO:0000269|PubMed:18559951"
FT MUTAGEN 145
FT /note="P->A: Abolishes interaction with GRB2."
FT /evidence="ECO:0000269|PubMed:18559951"
SQ SEQUENCE 157 AA; 17883 MW; 82AC4A3D6BDB7C5A CRC64;
MSKSCGNNLA AISVGISLLL LLVVCGIGCV WHWKHRVATR FTLPRFLQRR SSRRKVCTKT
FLGPRIIGLR HEISVETQDH KSAVRGNNTH DNYENVEAGP PKAKGKTDKE LYENTGQSNF
EEHIYGNETS SDYYNFQKPR PSEVPQDEDI YILPDSY
