LOCUS       NM_001205               1168 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens BCL2 interacting protein 1 (BNIP1), transcript variant
            BNIP1, mRNA.
ACCESSION   NM_001205
VERSION     NM_001205.3
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 1168)
  AUTHORS   Holling,T., Bhavani,G.S., von Elsner,L., Shah,H., Kausthubham,N.,
            Bhattacharyya,S.S., Shukla,A., Mortier,G.R., Schinke,T.,
            Danyukova,T., Pohl,S., Kutsche,K. and Girisha,K.M.
  TITLE     A homozygous hypomorphic BNIP1 variant causes an increase in
            autophagosomes and reduced autophagic flux and results in a
            spondylo-epiphyseal dysplasia
  JOURNAL   Hum Mutat 43 (5), 625-642 (2022)
   PUBMED   35266227
  REMARK    GeneRIF: A homozygous hypomorphic BNIP1 variant causes an increase
            in autophagosomes and reduced autophagic flux and results in a
            spondylo-epiphyseal dysplasia.
REFERENCE   2  (bases 1 to 1168)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1168)
  AUTHORS   Park,J., Han,J.H., Myung,S.H., Seo,Y.W. and Kim,T.H.
  TITLE     MTD-like motif of a BH3-only protein, BNIP1, induces necrosis
            accompanied by an intracellular calcium spike
  JOURNAL   Biochem Biophys Res Commun 495 (2), 1661-1667 (2018)
   PUBMED   29222049
  REMARK    GeneRIF: The mitochondrial targeting domain (MTD) of Noxa has
            necrosis-inducing activity when conjugated with cell-penetrating
            peptide (CPP). In this study, we report another MTD-like motif,
            B1MLM, found in BNIP1, a pro-apoptotic BH3-only protein found in
            the endoplasmic reticulum membrane. The B1MLM peptide, conjugated
            with CPP, induced necrosis in a way similar to that of R8:MTD.
            Erratum:[Biochem Biophys Res Commun. 2019 Jan 22;508(4):1291. doi:
            10.1016/j.bbrc.2018.12.086.. PMID: 30567636]
REFERENCE   4  (bases 1 to 1168)
  AUTHORS   Wang,P., Wu,Y., Li,Y., Zheng,J. and Tang,J.
  TITLE     A novel RING finger E3 ligase RNF186 regulate ER stress-mediated
            apoptosis through interaction with BNip1
  JOURNAL   Cell Signal 25 (11), 2320-2333 (2013)
   PUBMED   23896122
  REMARK    GeneRIF: BNip1 functions as a downstream modulator of RNF186 to
            direct endoplasmic reticulum stress-associated apoptotic signaling.
REFERENCE   5  (bases 1 to 1168)
  AUTHORS   Cho,B., Choi,S.Y., Park,O.H., Sun,W. and Geum,D.
  TITLE     Differential expression of BNIP family members of BH3-only proteins
            during the development and after axotomy in the rat
  JOURNAL   Mol Cells 33 (6), 605-610 (2012)
   PUBMED   22639046
  REMARK    GeneRIF: three members of the BNIP family, BNIP1, BNIP3 and BNIP3L,
            are expressed in the developing brain with distinct brain region
            specificity
REFERENCE   6  (bases 1 to 1168)
  AUTHORS   Nakajima,K., Hirose,H., Taniguchi,M., Kurashina,H., Arasaki,K.,
            Nagahama,M., Tani,K., Yamamoto,A. and Tagaya,M.
  TITLE     Involvement of BNIP1 in apoptosis and endoplasmic reticulum
            membrane fusion
  JOURNAL   EMBO J 23 (16), 3216-3226 (2004)
   PUBMED   15272311
  REMARK    GeneRIF: soluble N-ethylmaleimide-sensitive factor attachment
            protein may suppress apoptosis by competing with antiapoptotic
            proteins for the BH3 domain of BNIP1
REFERENCE   7  (bases 1 to 1168)
  AUTHORS   Zhang,H., Heim,J. and Meyhack,B.
  TITLE     Novel BNIP1 variants and their interaction with BCL2 family members
  JOURNAL   FEBS Lett 448 (1), 23-27 (1999)
   PUBMED   10217402
REFERENCE   8  (bases 1 to 1168)
  AUTHORS   Kataoka,N., Ohno,M., Moda,I. and Shimura,Y.
  TITLE     Identification of the factors that interact with NCBP, an 80 kDa
            nuclear cap binding protein
  JOURNAL   Nucleic Acids Res 23 (18), 3638-3641 (1995)
   PUBMED   7478990
REFERENCE   9  (bases 1 to 1168)
  AUTHORS   Boyd,J.M., Malstrom,S., Subramanian,T., Venkatesh,L.K.,
            Schaeper,U., Elangovan,B., D'Sa-Eipper,C. and Chinnadurai,G.
  TITLE     Adenovirus E1B 19 kDa and Bcl-2 proteins interact with a common set
            of cellular proteins
  JOURNAL   Cell 79 (2), 341-351 (1994)
   PUBMED   7954800
  REMARK    Erratum:[Cell. 1994 Dec 16;79(6):1121.. PMID: 8001138]
REFERENCE   10 (bases 1 to 1168)
  AUTHORS   Gu,Z., Moerschell,R.P., Sherman,F. and Goldfarb,D.S.
  TITLE     NIP1, a gene required for nuclear transport in yeast
  JOURNAL   Proc Natl Acad Sci U S A 89 (21), 10355-10359 (1992)
   PUBMED   1332047
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010959.1 and BP384034.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001205.2.
            
            Summary: This gene is a member of the BCL2/adenovirus E1B 19
            kd-interacting protein (BNIP) family. It interacts with the E1B 19
            kDa protein, which protects cells from virally-induced cell death.
            The encoded protein also interacts with E1B 19 kDa-like sequences
            of BCL2, another apoptotic protector. In addition, this protein is
            involved in vesicle transport into the endoplasmic reticulum.
            Alternative splicing of this gene results in four protein products
            with identical N- and C-termini. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: Transcript variant BNIP1 contains the entire
            coding region of the gene. This variant contains a fully conserved
            BH3 domain, which has been associated with pro-apoptotic function.
            
            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 :: SRR5189655.23775.1,
                                           SRR5189658.106742.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351486.10/ ENSP00000239215.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1161              BC010959.1         15-1175
            1162-1168           BP384034.1         328-334
FEATURES             Location/Qualifiers
     source          1..1168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..1168
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /note="BCL2 interacting protein 1"
                     /db_xref="GeneID:662"
                     /db_xref="HGNC:HGNC:1082"
                     /db_xref="MIM:603291"
     exon            1..99
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..702
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /note="isoform BNIP1 is encoded by transcript variant
                     BNIP1; BCL2/adenovirus E1B 19kDa interacting protein 1;
                     vesicle transport protein SEC20; transformation-related
                     gene 8 protein; BCL2/adenovirus E1B 19 kDa
                     protein-interacting protein 1"
                     /codon_start=1
                     /product="vesicle transport protein SEC20 isoform BNIP1"
                     /protein_id="NP_001196.2"
                     /db_xref="CCDS:CCDS4384.1"
                     /db_xref="GeneID:662"
                     /db_xref="HGNC:HGNC:1082"
                     /db_xref="MIM:603291"
                     /translation="MAAPQDVHVRICNQEIVKFDLEVKALIQDIRDCSGPLSALTELN
                     TKVKEKFQQLRHRIQDLEQLAKEQDKESEKQLLLQEVENHKKQMLSNQASWRKANLTC
                     KIAIDNLEKAELLQGGDLLRQRKTTKESLAQTSSTITESLMGISRMMAQQVQQSEEAM
                     QSLVTSSRTILDANEEFKSMSGTIQLGRKLITKYNRRELTDKLLIFLALALFLATVLY
                     IVKKRLFPFL"
     exon            100..192
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /inference="alignment:Splign:2.1.0"
     exon            193..284
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /inference="alignment:Splign:2.1.0"
     exon            285..386
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /inference="alignment:Splign:2.1.0"
     exon            387..505
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /inference="alignment:Splign:2.1.0"
     exon            506..1168
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1117..1122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /note="hexamer: AATAAA"
     regulatory      1141..1146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /note="hexamer: AATAAA"
     polyA_site      1142
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /note="major polyA site"
     polyA_site      1168
                     /gene="BNIP1"
                     /gene_synonym="NIP1; SEC20; TRG-8"
                     /note="major polyA site"
ORIGIN      
        1 gccggcgtcc ccaacatggc ggctccccaa gacgtccacg tccggatctg taaccaagag
       61 attgtcaaat ttgacctgga ggtgaaggcg cttattcagg atatccgtga ttgttcagga
      121 cccttaagtg ctcttactga actgaatact aaagtaaaag agaaatttca acagttgcgt
      181 cacagaatac aggacctgga gcagttggct aaagagcaag acaaagaatc agagaaacaa
      241 cttctactcc aggaagtgga gaatcacaaa aagcagatgc tcagcaatca ggcctcatgg
      301 aggaaagcta atctcacctg caaaattgca atcgacaatc tagagaaagc agaacttctt
      361 cagggaggag atctcttaag gcaaaggaaa accaccaaag agagcctggc ccagacatcc
      421 agtaccatca ctgagagcct catggggatc agcaggatga tggcccagca ggtccagcag
      481 agcgaggagg ccatgcagtc tctagtcact tcttcacgaa cgatcctgga tgcaaatgaa
      541 gaatttaagt ccatgtcggg caccatccag ctgggccgga agcttatcac aaaatacaat
      601 cgccgggagc tgacggacaa gcttctcatc ttccttgcgc tagccctgtt tcttgctacg
      661 gtcctctata ttgtgaaaaa gcggctcttt ccatttttgt gagatcccaa aggtgccagt
      721 tctggccctt tcagctcctg tttcaggatc tgtcctggtt cctgagctct aggctgctaa
      781 gctgagccac acacccctcc gtttgcacca gttgcctgca ggttggatgg aacacagtgc
      841 cccacttttc tgcaagtagc tggcttgtaa agggtgaaca gagccatggg aggaaggtct
      901 ggcattggga tgccgccctg gggacatacg aaccgcctcc ttccaccatt gtgcactatg
      961 ggaggccgct gctgcgtgga gcacttaaag tccagcctcc aggaccggat gcccctcctg
     1021 tctcccgctc ccatcgtgcc cttaaatgcc agatctggtg gagggaagag agaagaggta
     1081 ggaagaaagg tgatgaaaac tcctggtcat tccttgaata aacttgattt tatttaatag
     1141 aataaaatgt atttgatttt gtaagata
//
