NIPS2_HUMAN
ID NIPS2_HUMAN Reviewed; 286 AA.
AC O75323; C9IYJ3; O43801; Q53X96;
DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Protein NipSnap homolog 2;
DE Short=NipSnap2;
DE AltName: Full=Glioblastoma-amplified sequence {ECO:0000303|PubMed:9615231};
GN Name=NIPSNAP2 {ECO:0000312|HGNC:HGNC:4179}; Synonyms=GBAS;
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] (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 sites
RT 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 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., 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 [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., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., 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., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., 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 project:
RT 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., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP INTERACTION WITH VDAC1, AND SUBCELLULAR LOCATION.
RX PubMed=26387735; DOI=10.1016/j.molcel.2015.08.009;
RA Shanmughapriya S., Rajan S., Hoffman N.E., Higgins A.M., Tomar D.,
RA Nemani N., Hines K.J., Smith D.J., Eguchi A., Vallem S., Shaikh F.,
RA Cheung M., Leonard N.J., Stolakis R.S., Wolfers M.P., Ibetti J.,
RA Chuprun J.K., Jog N.R., Houser S.R., Koch W.J., Elrod J.W., Madesh M.;
RT "SPG7 is an essential and conserved component of the mitochondrial
RT permeability transition pore.";
RL Mol. Cell 60:47-62(2015).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: May act as a positive regulator of L-type calcium channels.
CC {ECO:0000250|UniProtKB:O55126}.
CC -!- SUBUNIT: Interacts with VDAC1. {ECO:0000269|PubMed:26387735}.
CC -!- INTERACTION:
CC O75323; O95166: GABARAP; NbExp=5; IntAct=EBI-307133, EBI-712001;
CC O75323; Q9H0R8: GABARAPL1; NbExp=6; IntAct=EBI-307133, EBI-746969;
CC O75323; P60520: GABARAPL2; NbExp=6; IntAct=EBI-307133, EBI-720116;
CC O75323; Q9GZQ8: MAP1LC3B; NbExp=4; IntAct=EBI-307133, EBI-373144;
CC O75323; Q9BXW4: MAP1LC3C; NbExp=2; IntAct=EBI-307133, EBI-2603996;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O55126}.
CC Mitochondrion outer membrane {ECO:0000269|PubMed:26387735}.
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 -!- TISSUE SPECIFICITY: Widely expressed. Most abundant in heart and
CC skeletal muscle.
CC -!- SIMILARITY: Belongs to the NipSnap family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAA04633.1; Type=Frameshift; Evidence={ECO:0000305};
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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 CCDS; CCDS5521.1; -. [O75323-1]
DR CCDS; CCDS56488.1; -. [O75323-2]
DR RefSeq; NP_001189398.1; NM_001202469.1. [O75323-2]
DR RefSeq; NP_001474.1; NM_001483.2. [O75323-1]
DR AlphaFoldDB; O75323; -.
DR BioGRID; 108901; 155.
DR DIP; DIP-33564N; -.
DR IntAct; O75323; 61.
DR MINT; O75323; -.
DR STRING; 9606.ENSP00000313050; -.
DR GlyGen; O75323; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O75323; -.
DR MetOSite; O75323; -.
DR PhosphoSitePlus; O75323; -.
DR SwissPalm; O75323; -.
DR BioMuta; NIPSNAP2; -.
DR UCD-2DPAGE; O75323; -.
DR EPD; O75323; -.
DR jPOST; O75323; -.
DR MassIVE; O75323; -.
DR MaxQB; O75323; -.
DR PaxDb; O75323; -.
DR PeptideAtlas; O75323; -.
DR PRIDE; O75323; -.
DR ProteomicsDB; 49893; -. [O75323-1]
DR ProteomicsDB; 7673; -.
DR Antibodypedia; 27971; 288 antibodies from 29 providers.
DR DNASU; 2631; -.
DR Ensembl; ENST00000322090.8; ENSP00000313050.3; ENSG00000146729.10. [O75323-1]
DR Ensembl; ENST00000446778.5; ENSP00000406855.1; ENSG00000146729.10. [O75323-2]
DR GeneID; 2631; -.
DR KEGG; hsa:2631; -.
DR MANE-Select; ENST00000322090.8; ENSP00000313050.3; NM_001483.3; NP_001474.1.
DR UCSC; uc003tre.3; human. [O75323-1]
DR CTD; 2631; -.
DR DisGeNET; 2631; -.
DR GeneCards; NIPSNAP2; -.
DR HGNC; HGNC:4179; NIPSNAP2.
DR HPA; ENSG00000146729; Group enriched (heart muscle, skeletal muscle, tongue).
DR MIM; 603004; gene.
DR neXtProt; NX_O75323; -.
DR OpenTargets; ENSG00000146729; -.
DR PharmGKB; PA28593; -.
DR VEuPathDB; HostDB:ENSG00000146729; -.
DR eggNOG; KOG2883; Eukaryota.
DR GeneTree; ENSGT00950000183018; -.
DR HOGENOM; CLU_053393_1_0_1; -.
DR InParanoid; O75323; -.
DR OMA; WPQIASR; -.
DR OrthoDB; 1141024at2759; -.
DR PhylomeDB; O75323; -.
DR TreeFam; TF314501; -.
DR PathwayCommons; O75323; -.
DR Reactome; R-HSA-9013407; RHOH GTPase cycle.
DR Reactome; R-HSA-9013409; RHOJ GTPase cycle.
DR SignaLink; O75323; -.
DR BioGRID-ORCS; 2631; 10 hits in 1076 CRISPR screens.
DR ChiTaRS; GBAS; human.
DR GeneWiki; GBAS_(gene); -.
DR GenomeRNAi; 2631; -.
DR Pharos; O75323; Tbio.
DR PRO; PR:O75323; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; O75323; protein.
DR Bgee; ENSG00000146729; Expressed in biceps brachii and 204 other tissues.
DR ExpressionAtlas; O75323; baseline and differential.
DR Genevisible; O75323; HS.
DR GO; GO:0005741; C:mitochondrial outer membrane; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:LIFEdb.
DR GO; GO:0007005; P:mitochondrion organization; IMP:BHF-UCL.
DR GO; GO:0006119; P:oxidative phosphorylation; IMP:BHF-UCL.
DR GO; GO:1901843; P:positive regulation of high voltage-gated calcium channel activity; ISS:UniProtKB.
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; Cytoplasm; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Reference proteome.
FT CHAIN 1..286
FT /note="Protein NipSnap homolog 2"
FT /id="PRO_0000221148"
FT VAR_SEQ 79..148
FT /note="HNVKPECLEAYNKICQEVLPKIHEDKHYPCTLVGTWNTWYGEQDQAVHLWRY
FT EGGYPALTEVMNKLRENK -> KRCCQRFTKINTTLVLWWGLGTRGMASRTKL (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044708"
FT CONFLICT 12
FT /note="A -> P (in Ref. 2; CAA04633)"
FT /evidence="ECO:0000305"
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
