LOCUS       NM_001483               1993 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens nipsnap homolog 2 (NIPSNAP2), transcript variant 1,
            mRNA.
ACCESSION   NM_001483
VERSION     NM_001483.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1993)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1993)
  AUTHORS   Peng,J., Ma,K., Rong,H., Xiao,B., Zhu,J. and He,J.T.
  TITLE     Knockdown of GBAS regulates esophageal cancer cell viability and
            apoptosis
  JOURNAL   Mol Med Rep 24 (1) (2021)
   PUBMED   34036378
  REMARK    GeneRIF: Knockdown of GBAS regulates esophageal cancer cell
            viability and apoptosis.
REFERENCE   3  (bases 1 to 1993)
  AUTHORS   Princely Abudu,Y., Pankiv,S., Mathai,B.J., Hakon Lystad,A.,
            Bindesboll,C., Brenne,H.B., Yoke Wui Ng,M., Thiede,B., Yamamoto,A.,
            Mutugi Nthiga,T., Lamark,T., Esguerra,C.V., Johansen,T. and
            Simonsen,A.
  TITLE     NIPSNAP1 and NIPSNAP2 Act as 'Eat Me' Signals for Mitophagy
  JOURNAL   Dev Cell 49 (4), 509-525 (2019)
   PUBMED   30982665
  REMARK    GeneRIF: NIPSNAP1 and NIPSNAP2 have a redundant function in
            mitophagy and are predominantly expressed in different tissues.
REFERENCE   4  (bases 1 to 1993)
  AUTHORS   Hong,M.J., Lee,S.Y., Choi,J.E., Kang,H.G., Do,S.K., Lee,J.H.,
            Yoo,S.S., Lee,E.B., Seok,Y., Cho,S., Jheon,S., Lee,J., Cha,S.I.,
            Kim,C.H. and Park,J.Y.
  TITLE     Intronic variant of EGFR is associated with GBAS expression and
            survival outcome of early-stage non-small cell lung cancer
  JOURNAL   Thorac Cancer 9 (8), 916-923 (2018)
   PUBMED   29806744
  REMARK    GeneRIF: Results show that the rs9642391C>G variant, which is
            located in the intron region of EGFR, is associated with GBAS
            expression and survival outcomes in surgically resected early-stage
            non-small cell lung cancer patients.
REFERENCE   5  (bases 1 to 1993)
  AUTHORS   Yamamoto,S., Okamoto,T., Ogasawara,N., Hashimoto,S., Shiraishi,T.,
            Sato,T., Yamamoto,K., Tsutsumi,H., Takano,K., Himi,T., Itoh,H. and
            Yokota,S.I.
  TITLE     NIP-SNAP-1 and -2 mitochondrial proteins are maintained by heat
            shock protein 60
  JOURNAL   Biochem Biophys Res Commun 483 (3), 917-922 (2017)
   PUBMED   28011268
  REMARK    GeneRIF: NIP-SNAP-1 and -2 localized in the mitochondrial inner
            membrane space, whereas HSP60 localized in the matrix. Expression
            levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of
            HSP60, but not HSP10. The findings indicate that HSP60 promotes
            folding and maintains the stability of NIP-SNAP-1 and -2.
REFERENCE   6  (bases 1 to 1993)
  AUTHORS   Zhao,X., Leon,I.R., Bak,S., Mogensen,M., Wrzesinski,K., Hojlund,K.
            and Jensen,O.N.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   7  (bases 1 to 1993)
  AUTHORS   Martherus,R.S., Sluiter,W., Timmer,E.D., VanHerle,S.J., Smeets,H.J.
            and Ayoubi,T.A.
  TITLE     Functional annotation of heart enriched mitochondrial genes GBAS
            and CHCHD10 through guilt by association
  JOURNAL   Biochem Biophys Res Commun 402 (2), 203-208 (2010)
   PUBMED   20888800
  REMARK    GeneRIF: CHCHD10 and GBAS are involved in oxidative
            phosphorylation.
REFERENCE   8  (bases 1 to 1993)
  AUTHORS   Behrends,C., Sowa,M.E., Gygi,S.P. and Harper,J.W.
  TITLE     Network organization of the human autophagy system
  JOURNAL   Nature 466 (7302), 68-76 (2010)
   PUBMED   20562859
REFERENCE   9  (bases 1 to 1993)
  AUTHORS   Seroussi,E., Pan,H.Q., Kedra,D., Roe,B.A. and Dumanski,J.P.
  TITLE     Characterization of the human NIPSNAP1 gene from 22q12: a member of
            a novel gene family
  JOURNAL   Gene 212 (1), 13-20 (1998)
   PUBMED   9661659
REFERENCE   10 (bases 1 to 1993)
  AUTHORS   Wang,X.Y., Smith,D.I., Liu,W. and James,C.D.
  TITLE     GBAS, a novel gene encoding a protein with tyrosine phosphorylation
            sites and a transmembrane domain, is co-amplified with EGFR
  JOURNAL   Genomics 49 (3), 448-451 (1998)
   PUBMED   9615231
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX166452.1, BC030821.1 and
            BU753659.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001483.2.
            
            Summary: This gene encodes a member of the NipSnap family of
            proteins that may be involved in vesicular transport. The encoded
            protein is localized to mitochondria and plays a role in oxidative
            phosphorylation. A pseudogene of this gene is located on the long
            arm of chromosome 2. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.62888.1,
                                           SRR3476690.323305.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000322090.8/
                                                  ENSP00000313050.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                CX166452.1         9-18
            11-1922             BC030821.1         1-1912
            1923-1993           BU753659.1         19-89               c
FEATURES             Location/Qualifiers
     source          1..1993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     gene            1..1993
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /note="nipsnap homolog 2"
                     /db_xref="GeneID:2631"
                     /db_xref="HGNC:HGNC:4179"
                     /db_xref="MIM:603004"
     exon            1..117
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..886
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     4-nitrophenylphosphatase domain and non-neuronal
                     SNAP25-like 2; protein NipSnap homolog 2; glioblastoma
                     amplified sequence"
                     /codon_start=1
                     /product="protein NipSnap homolog 2 isoform 1"
                     /protein_id="NP_001474.1"
                     /db_xref="CCDS:CCDS5521.1"
                     /db_xref="GeneID:2631"
                     /db_xref="HGNC:HGNC:4179"
                     /db_xref="MIM:603004"
                     /translation="MAARVLRARGAAWAGGLLQRAAPCSLLPRLRTWTSSSNRSREDS
                     WLKSLFVRKVDPRKDAHSNLLAKKETSNLYKLQFHNVKPECLEAYNKICQEVLPKIHE
                     DKHYPCTLVGTWNTWYGEQDQAVHLWRYEGGYPALTEVMNKLRENKEFLEFRKARSDM
                     LLSRKNQLLLEFSFWNEPVPRSGPNIYELRSYQLRPGTMIEWGNYWARAIRFRQDGNE
                     AVGGFFSQIGQLYMVHHLWAYRDLQTREDIRNAAWHKHGWEELVYYTVPLIQEMESRI
                     MIPLKTSPLQ"
     exon            118..257
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            258..303
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            304..398
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            399..469
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            470..610
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            611..642
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            643..737
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            738..821
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     exon            822..1993
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1970..1975
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /note="hexamer: AATAAA"
     polyA_site      1993
                     /gene="NIPSNAP2"
                     /gene_synonym="GBAS"
                     /note="major polyA site"
ORIGIN      
        1 ggtgggagcc gaggcgccga gcaagatggc ggcgcgagtg ctgcgcgccc gcggagcggc
       61 ctgggccggc ggcctcctgc agcgggcggc cccctgcagc ctcctgccca ggctccggac
      121 atggacatct tccagcaaca gatctcgaga agacagctgg ctaaaatcct tatttgtccg
      181 gaaagttgat ccaagaaaag atgcccactc caatctccta gccaaaaagg aaacaagcaa
      241 tctatacaaa ttacagtttc acaatgttaa accggaatgc ctagaagcat acaacaaaat
      301 ttgtcaagag gtgttgccaa agattcacga agataaacac tacccttgta ctttggtggg
      361 gacttggaac acgtggtatg gcgagcagga ccaagctgtc cacctctgga ggtatgaagg
      421 aggctatcca gccctcacag aagtcatgaa taaactcaga gaaaataagg aatttttgga
      481 atttcgtaag gcaagaagtg acatgcttct ctccaggaag aatcagctcc tgttggagtt
      541 cagtttctgg aatgagcctg tgccaagatc cggacctaat atatatgaac tcaggtctta
      601 ccaactccga ccaggaacca tgattgaatg gggcaattac tgggctcgtg caatccgctt
      661 cagacaggat ggtaacgaag ccgtcggagg attcttctct cagattgggc agctgtacat
      721 ggtgcaccat ctttgggctt acagggatct tcagaccagg gaagacatac ggaatgcagc
      781 atggcacaaa catggctggg aggaattggt atattacaca gttccactta ttcaggaaat
      841 ggaatccaga atcatgatcc cactgaagac ctcgcccctc cagtaaagct gtagagtttc
      901 tatgtgccta catacatttc tgtgacaagt atttgtcgta aattaatttt aattgtgtat
      961 caagtgaaaa agaaacactg aggttttaag ctgctgtata tagcttgtga gaaacctctt
     1021 ttctttaaaa tttacataat cacaagaaag gaaagaatta cagttggact gattgtgaca
     1081 gtgccttgtc gtcctctttg aaacaccccg tgttgtccag tataccttat aacactgagc
     1141 cacttctccc caccctccag aaggggtcca cgttgaattc tgaatcatct tgaaaataag
     1201 attccaacca caaaaaaaat ttagccattt ctttactaaa aaaaaccaaa aaacaaatct
     1261 gttttataat cacagatttt tagacaaatt tcttgtatca ggaagaaata caaattttgt
     1321 catgtttctc aagcagtttt tctgagtagt ttctgaggag gaacaaatta caagtgtacc
     1381 caataactga aaatgtttta actcactctc atttgtaagc agtccacata gtagacaatg
     1441 ggttttccaa gctgggcaag gtacatttaa tcagtaaatc agtttcacat catgtattgt
     1501 gatgtttcaa tgtgagacac aaaaacaatg gcttgaaact tgtgtatcat atgtgatttt
     1561 gaaatgaaca ccttgaatag cactaatttt tatttgtggt atttttctat aacaaaacaa
     1621 gtagctctag gaaaagaggt tttattttgt aaacgatcat ttgtgacctc agacactctc
     1681 tggctaatat tttaataagc tcacagcaga taattctgag atcatgggtg aggggtggtg
     1741 catgttgaga tttaaattgg cataaagctg catacttttt gtctagctgt ttgatttcat
     1801 tttttaatat agtatgccaa ttttgtgact gttaccatgt gaaagtcctg ttgaaatgaa
     1861 caattgtctg ccccacaatc aagaatgtat gtgtaaagtg tgaataaatc tcatatcaaa
     1921 tgtcaaactt ttacatgtga atgattttct caaagaacat agaaaagtca ataaaatcct
     1981 cttaatttcc aca
//
