Full text data of GBAS
GBAS
(NIPSNAP2)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Protein NipSnap homolog 2; NipSnap2 (Glioblastoma-amplified sequence)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Protein NipSnap homolog 2; NipSnap2 (Glioblastoma-amplified sequence)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
hRBCD
IPI00016077
IPI00016077 NipSnap2 protein NipSnap2 protein membrane n/a n/a n/a n/a n/a n/a n/a n/a 1 n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a mitochondrial membrane n/a expected molecular weight found in band > 188 kDa together with ubiquitin
IPI00016077 NipSnap2 protein NipSnap2 protein membrane n/a n/a n/a n/a n/a n/a n/a n/a 1 n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a mitochondrial membrane n/a expected molecular weight found in band > 188 kDa together with ubiquitin
UniProt
O75323
ID NIPS2_HUMAN Reviewed; 286 AA.
AC O75323; C9IYJ3; O43801; Q53X96;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1998, sequence version 1.
DT 22-JAN-2014, entry version 110.
DE RecName: Full=Protein NipSnap homolog 2;
DE Short=NipSnap2;
DE AltName: Full=Glioblastoma-amplified sequence;
GN Name=GBAS; Synonyms=NIPSNAP2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9615231; DOI=10.1006/geno.1998.5239;
RA Wang X.-Y., Smith D.I., Liu W., James C.D.;
RT "GBAS, a novel gene encoding a protein with tyrosine phosphorylation
RT sites and a transmembrane domain, is co-amplified with EGFR.";
RL Genomics 49:448-451(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9661659; DOI=10.1016/S0378-1119(98)00098-5;
RA Seroussi E., Pan H.Q., Kedra D., Roe B.A., Dumanski J.P.;
RT "Characterization of the human NIPSNAP1 gene from 22q12: a member of a
RT novel gene family.";
RL Gene 212:13-20(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
RA Waterston R.H., Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon, and Lung;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- INTERACTION:
CC O95166:GABARAP; NbExp=5; IntAct=EBI-307133, EBI-712001;
CC Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-307133, EBI-746969;
CC P60520:GABARAPL2; NbExp=6; IntAct=EBI-307133, EBI-720116;
CC Q9GZQ8:MAP1LC3B; NbExp=4; IntAct=EBI-307133, EBI-373144;
CC Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-307133, EBI-2603996;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75323-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75323-2; Sequence=VSP_044708;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Widely expressed. Most abundant in heart and
CC skeletal muscle.
CC -!- SIMILARITY: Belongs to the NipSnap family.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA04633.1; Type=Frameshift; Positions=8, 11, 17;
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DR EMBL; AF029786; AAC29002.1; -; mRNA.
DR EMBL; AJ001259; CAA04633.1; ALT_FRAME; mRNA.
DR EMBL; BT007112; AAP35776.1; -; mRNA.
DR EMBL; AK097049; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR407612; CAG28540.1; -; mRNA.
DR EMBL; AC092579; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471140; EAX07966.1; -; Genomic_DNA.
DR EMBL; CH471140; EAX07967.1; -; Genomic_DNA.
DR EMBL; BC000732; AAH00732.1; -; mRNA.
DR EMBL; BC001837; AAH01837.1; -; mRNA.
DR EMBL; BC030821; AAH30821.1; -; mRNA.
DR RefSeq; NP_001189398.1; NM_001202469.1.
DR RefSeq; NP_001474.1; NM_001483.2.
DR UniGene; Hs.591069; -.
DR ProteinModelPortal; O75323; -.
DR SMR; O75323; 186-286.
DR IntAct; O75323; 36.
DR MINT; MINT-5003890; -.
DR STRING; 9606.ENSP00000313050; -.
DR PhosphoSite; O75323; -.
DR UCD-2DPAGE; O75323; -.
DR PaxDb; O75323; -.
DR PeptideAtlas; O75323; -.
DR PRIDE; O75323; -.
DR DNASU; 2631; -.
DR Ensembl; ENST00000322090; ENSP00000313050; ENSG00000146729.
DR Ensembl; ENST00000446778; ENSP00000406855; ENSG00000146729.
DR GeneID; 2631; -.
DR KEGG; hsa:2631; -.
DR UCSC; uc003trf.2; human.
DR CTD; 2631; -.
DR GeneCards; GC07P056020; -.
DR HGNC; HGNC:4179; GBAS.
DR MIM; 603004; gene.
DR neXtProt; NX_O75323; -.
DR PharmGKB; PA28593; -.
DR eggNOG; NOG09022; -.
DR HOGENOM; HOG000194298; -.
DR HOVERGEN; HBG052627; -.
DR InParanoid; O75323; -.
DR OMA; IMIPLKT; -.
DR PhylomeDB; O75323; -.
DR GeneWiki; GBAS_(gene); -.
DR GenomeRNAi; 2631; -.
DR NextBio; 10372; -.
DR PRO; PR:O75323; -.
DR ArrayExpress; O75323; -.
DR Bgee; O75323; -.
DR CleanEx; HS_GBAS; -.
DR Genevestigator; O75323; -.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0006754; P:ATP biosynthetic process; IMP:BHF-UCL.
DR GO; GO:2000984; P:negative regulation of ATP citrate synthase activity; IMP:BHF-UCL.
DR GO; GO:0006119; P:oxidative phosphorylation; IMP:BHF-UCL.
DR InterPro; IPR011008; Dimeric_a/b-barrel.
DR InterPro; IPR012577; NIPSNAP.
DR Pfam; PF07978; NIPSNAP; 1.
DR SUPFAM; SSF54909; SSF54909; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Reference proteome.
FT CHAIN 1 286 Protein NipSnap homolog 2.
FT /FTId=PRO_0000221148.
FT VAR_SEQ 79 148 HNVKPECLEAYNKICQEVLPKIHEDKHYPCTLVGTWNTWYG
FT EQDQAVHLWRYEGGYPALTEVMNKLRENK -> KRCCQRFT
FT KINTTLVLWWGLGTRGMASRTKL (in isoform 2).
FT /FTId=VSP_044708.
FT CONFLICT 12 12 A -> P (in Ref. 2; CAA04633).
SQ SEQUENCE 286 AA; 33743 MW; 7ED85297E4DC9D08 CRC64;
MAARVLRARG AAWAGGLLQR AAPCSLLPRL RTWTSSSNRS REDSWLKSLF VRKVDPRKDA
HSNLLAKKET SNLYKLQFHN VKPECLEAYN KICQEVLPKI HEDKHYPCTL VGTWNTWYGE
QDQAVHLWRY EGGYPALTEV MNKLRENKEF LEFRKARSDM LLSRKNQLLL EFSFWNEPVP
RSGPNIYELR SYQLRPGTMI EWGNYWARAI RFRQDGNEAV GGFFSQIGQL YMVHHLWAYR
DLQTREDIRN AAWHKHGWEE LVYYTVPLIQ EMESRIMIPL KTSPLQ
//
ID NIPS2_HUMAN Reviewed; 286 AA.
AC O75323; C9IYJ3; O43801; Q53X96;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-NOV-1998, sequence version 1.
DT 22-JAN-2014, entry version 110.
DE RecName: Full=Protein NipSnap homolog 2;
DE Short=NipSnap2;
DE AltName: Full=Glioblastoma-amplified sequence;
GN Name=GBAS; Synonyms=NIPSNAP2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9615231; DOI=10.1006/geno.1998.5239;
RA Wang X.-Y., Smith D.I., Liu W., James C.D.;
RT "GBAS, a novel gene encoding a protein with tyrosine phosphorylation
RT sites and a transmembrane domain, is co-amplified with EGFR.";
RL Genomics 49:448-451(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9661659; DOI=10.1016/S0378-1119(98)00098-5;
RA Seroussi E., Pan H.Q., Kedra D., Roe B.A., Dumanski J.P.;
RT "Characterization of the human NIPSNAP1 gene from 22q12: a member of a
RT novel gene family.";
RL Gene 212:13-20(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
RA Waterston R.H., Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon, and Lung;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- INTERACTION:
CC O95166:GABARAP; NbExp=5; IntAct=EBI-307133, EBI-712001;
CC Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-307133, EBI-746969;
CC P60520:GABARAPL2; NbExp=6; IntAct=EBI-307133, EBI-720116;
CC Q9GZQ8:MAP1LC3B; NbExp=4; IntAct=EBI-307133, EBI-373144;
CC Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-307133, EBI-2603996;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75323-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75323-2; Sequence=VSP_044708;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Widely expressed. Most abundant in heart and
CC skeletal muscle.
CC -!- SIMILARITY: Belongs to the NipSnap family.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA04633.1; Type=Frameshift; Positions=8, 11, 17;
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DR EMBL; AF029786; AAC29002.1; -; mRNA.
DR EMBL; AJ001259; CAA04633.1; ALT_FRAME; mRNA.
DR EMBL; BT007112; AAP35776.1; -; mRNA.
DR EMBL; AK097049; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR407612; CAG28540.1; -; mRNA.
DR EMBL; AC092579; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471140; EAX07966.1; -; Genomic_DNA.
DR EMBL; CH471140; EAX07967.1; -; Genomic_DNA.
DR EMBL; BC000732; AAH00732.1; -; mRNA.
DR EMBL; BC001837; AAH01837.1; -; mRNA.
DR EMBL; BC030821; AAH30821.1; -; mRNA.
DR RefSeq; NP_001189398.1; NM_001202469.1.
DR RefSeq; NP_001474.1; NM_001483.2.
DR UniGene; Hs.591069; -.
DR ProteinModelPortal; O75323; -.
DR SMR; O75323; 186-286.
DR IntAct; O75323; 36.
DR MINT; MINT-5003890; -.
DR STRING; 9606.ENSP00000313050; -.
DR PhosphoSite; O75323; -.
DR UCD-2DPAGE; O75323; -.
DR PaxDb; O75323; -.
DR PeptideAtlas; O75323; -.
DR PRIDE; O75323; -.
DR DNASU; 2631; -.
DR Ensembl; ENST00000322090; ENSP00000313050; ENSG00000146729.
DR Ensembl; ENST00000446778; ENSP00000406855; ENSG00000146729.
DR GeneID; 2631; -.
DR KEGG; hsa:2631; -.
DR UCSC; uc003trf.2; human.
DR CTD; 2631; -.
DR GeneCards; GC07P056020; -.
DR HGNC; HGNC:4179; GBAS.
DR MIM; 603004; gene.
DR neXtProt; NX_O75323; -.
DR PharmGKB; PA28593; -.
DR eggNOG; NOG09022; -.
DR HOGENOM; HOG000194298; -.
DR HOVERGEN; HBG052627; -.
DR InParanoid; O75323; -.
DR OMA; IMIPLKT; -.
DR PhylomeDB; O75323; -.
DR GeneWiki; GBAS_(gene); -.
DR GenomeRNAi; 2631; -.
DR NextBio; 10372; -.
DR PRO; PR:O75323; -.
DR ArrayExpress; O75323; -.
DR Bgee; O75323; -.
DR CleanEx; HS_GBAS; -.
DR Genevestigator; O75323; -.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0006754; P:ATP biosynthetic process; IMP:BHF-UCL.
DR GO; GO:2000984; P:negative regulation of ATP citrate synthase activity; IMP:BHF-UCL.
DR GO; GO:0006119; P:oxidative phosphorylation; IMP:BHF-UCL.
DR InterPro; IPR011008; Dimeric_a/b-barrel.
DR InterPro; IPR012577; NIPSNAP.
DR Pfam; PF07978; NIPSNAP; 1.
DR SUPFAM; SSF54909; SSF54909; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Complete proteome; Reference proteome.
FT CHAIN 1 286 Protein NipSnap homolog 2.
FT /FTId=PRO_0000221148.
FT VAR_SEQ 79 148 HNVKPECLEAYNKICQEVLPKIHEDKHYPCTLVGTWNTWYG
FT EQDQAVHLWRYEGGYPALTEVMNKLRENK -> KRCCQRFT
FT KINTTLVLWWGLGTRGMASRTKL (in isoform 2).
FT /FTId=VSP_044708.
FT CONFLICT 12 12 A -> P (in Ref. 2; CAA04633).
SQ SEQUENCE 286 AA; 33743 MW; 7ED85297E4DC9D08 CRC64;
MAARVLRARG AAWAGGLLQR AAPCSLLPRL RTWTSSSNRS REDSWLKSLF VRKVDPRKDA
HSNLLAKKET SNLYKLQFHN VKPECLEAYN KICQEVLPKI HEDKHYPCTL VGTWNTWYGE
QDQAVHLWRY EGGYPALTEV MNKLRENKEF LEFRKARSDM LLSRKNQLLL EFSFWNEPVP
RSGPNIYELR SYQLRPGTMI EWGNYWARAI RFRQDGNEAV GGFFSQIGQL YMVHHLWAYR
DLQTREDIRN AAWHKHGWEE LVYYTVPLIQ EMESRIMIPL KTSPLQ
//
MIM
603004
*RECORD*
*FIELD* NO
603004
*FIELD* TI
*603004 GLIOBLASTOMA AMPLIFIED SEQUENCE; GBAS
;;4-@NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 2; NIPSNAP2;;
read moreNIPSNAP, C. ELEGANS, HOMOLOG OF, 2
*FIELD* TX
CLONING
Chromosomal region 7p12, which contains the EGFR (131550) gene, is
amplified in approximately 40% of glioblastomas, the most common and
malignant form of central nervous system tumor. By screening DNA from
glioblastomas with ESTs from this region, Wang et al. (1998) identified
a gene that was amplified in 2 of 12 tumors and designated it GBAS
(glioblastoma amplified sequence). The predicted 286-amino acid protein
contains a signal peptide, a transmembrane domain, and 2 tyrosine
phosphorylation sites. Northern blot analysis revealed that the 2.2-kb
GBAS transcript is expressed in various tissues, most abundantly in
heart and skeletal muscle.
Seroussi et al. (1998) identified GBAS as a member of the NIPSNAP gene
family and designated it NIPSNAP2. See NIPSNAP1 (603249). They also
identified cDNAs encoding mouse Nipsnap2. The predicted mouse and human
NIPSNAP2 proteins are 91% identical.
MAPPING
By use of a radiation hybrid panel, Wang et al. (1998) mapped the GBAS
gene to within approximately 880 kb of EGFR at 7p12.
*FIELD* RF
1. Seroussi, E.; Pan, H.-Q.; Kedra, D.; Roe, B. A.; Dumanski, J. P.
: Characterization of the human NIPSNAP1 gene from 22q12: a member
of a novel gene family. Gene 212: 13-20, 1998.
2. Wang, X.-Y.; Smith, D. I.; Lui, W.; James, C. D.: GBAS, a novel
gene encoding a protein with tyrosine phosphorylation sites and a
transmembrane domain, is co-amplified with EGFR. Genomics 49: 448-451,
1998.
*FIELD* CN
Rebekah S. Rasooly - updated: 11/3/1998
*FIELD* CD
Rebekah S. Rasooly: 8/26/1998
*FIELD* ED
alopez: 08/26/2011
mgross: 2/4/2009
psherman: 11/4/1998
psherman: 11/3/1998
carol: 8/26/1998
*RECORD*
*FIELD* NO
603004
*FIELD* TI
*603004 GLIOBLASTOMA AMPLIFIED SEQUENCE; GBAS
;;4-@NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 2; NIPSNAP2;;
read moreNIPSNAP, C. ELEGANS, HOMOLOG OF, 2
*FIELD* TX
CLONING
Chromosomal region 7p12, which contains the EGFR (131550) gene, is
amplified in approximately 40% of glioblastomas, the most common and
malignant form of central nervous system tumor. By screening DNA from
glioblastomas with ESTs from this region, Wang et al. (1998) identified
a gene that was amplified in 2 of 12 tumors and designated it GBAS
(glioblastoma amplified sequence). The predicted 286-amino acid protein
contains a signal peptide, a transmembrane domain, and 2 tyrosine
phosphorylation sites. Northern blot analysis revealed that the 2.2-kb
GBAS transcript is expressed in various tissues, most abundantly in
heart and skeletal muscle.
Seroussi et al. (1998) identified GBAS as a member of the NIPSNAP gene
family and designated it NIPSNAP2. See NIPSNAP1 (603249). They also
identified cDNAs encoding mouse Nipsnap2. The predicted mouse and human
NIPSNAP2 proteins are 91% identical.
MAPPING
By use of a radiation hybrid panel, Wang et al. (1998) mapped the GBAS
gene to within approximately 880 kb of EGFR at 7p12.
*FIELD* RF
1. Seroussi, E.; Pan, H.-Q.; Kedra, D.; Roe, B. A.; Dumanski, J. P.
: Characterization of the human NIPSNAP1 gene from 22q12: a member
of a novel gene family. Gene 212: 13-20, 1998.
2. Wang, X.-Y.; Smith, D. I.; Lui, W.; James, C. D.: GBAS, a novel
gene encoding a protein with tyrosine phosphorylation sites and a
transmembrane domain, is co-amplified with EGFR. Genomics 49: 448-451,
1998.
*FIELD* CN
Rebekah S. Rasooly - updated: 11/3/1998
*FIELD* CD
Rebekah S. Rasooly: 8/26/1998
*FIELD* ED
alopez: 08/26/2011
mgross: 2/4/2009
psherman: 11/4/1998
psherman: 11/3/1998
carol: 8/26/1998