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   27-MAR-2024, entry version 183.
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; 165.
DR   DIP; DIP-33564N; -.
DR   IntAct; O75323; 65.
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   EPD; O75323; -.
DR   jPOST; O75323; -.
DR   MassIVE; O75323; -.
DR   MaxQB; O75323; -.
DR   PaxDb; 9606-ENSP00000313050; -.
DR   PeptideAtlas; O75323; -.
DR   ProteomicsDB; 49893; -. [O75323-1]
DR   ProteomicsDB; 7673; -.
DR   Pumba; O75323; -.
DR   Antibodypedia; 27971; 313 antibodies from 30 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   AGR; HGNC:4179; -.
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; REKSWSV; -.
DR   OrthoDB; 2943326at2759; -.
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; 12 hits in 1156 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 206 other cell types or tissues.
DR   ExpressionAtlas; O75323; baseline and differential.
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   Gene3D; 3.30.70.100; -; 2.
DR   InterPro; IPR011008; Dimeric_a/b-barrel.
DR   InterPro; IPR012577; NIPSNAP.
DR   PANTHER; PTHR21017; NIPSNAP-RELATED; 1.
DR   PANTHER; PTHR21017:SF14; PROTEIN NIPSNAP HOMOLOG 2; 1.
DR   Pfam; PF07978; NIPSNAP; 1.
DR   SUPFAM; SSF54909; Dimeric alpha+beta barrel; 2.
DR   UCD-2DPAGE; O75323; -.
DR   Genevisible; O75323; HS.
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
//