LOCUS       NM_016009               6371 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens SH3 domain containing GRB2 like, endophilin B1
            (SH3GLB1), transcript variant 1, mRNA.
ACCESSION   NM_016009
VERSION     NM_016009.5
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 6371)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 6371)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 6371)
  AUTHORS   Bhatt,V.S., Ashley,R. and Sundborger-Lunna,A.
  TITLE     Amphipathic Motifs Regulate N-BAR Protein Endophilin B1
            Auto-inhibition and Drive Membrane Remodeling
  JOURNAL   Structure 29 (1), 61-69 (2021)
   PUBMED   33086035
  REMARK    GeneRIF: Amphipathic Motifs Regulate N-BAR Protein Endophilin B1
            Auto-inhibition and Drive Membrane Remodeling.
REFERENCE   4  (bases 1 to 6371)
  AUTHORS   Frangez,Z., Seyed Jafari,S.M., Hunger,R.E. and Simon,H.U.
  TITLE     Loss of Concurrent Regulation of the Expression of BIF-1, BAX, and
            Beclin-1 in Primary and Metastatic Melanoma
  JOURNAL   Biochemistry (Mosc) 85 (10), 1227-1234 (2020)
   PUBMED   33202207
  REMARK    GeneRIF: Loss of Concurrent Regulation of the Expression of BIF-1,
            BAX, and Beclin-1 in Primary and Metastatic Melanoma.
REFERENCE   5  (bases 1 to 6371)
  AUTHORS   Karbowski,M., Jeong,S.Y. and Youle,R.J.
  TITLE     Endophilin B1 is required for the maintenance of mitochondrial
            morphology
  JOURNAL   J Cell Biol 166 (7), 1027-1039 (2004)
   PUBMED   15452144
  REMARK    GeneRIF: Double knockdown of endophilin B1 and Drp1 leads to a
            mitochondrial phenotype identical to that of the Drp1 single
            knockdown, a result consistent with Drp1 acting upstream of
            endophilin B1 in the maintenance of morphological dynamics of
            mitochondria.
REFERENCE   6  (bases 1 to 6371)
  AUTHORS   Lee,S.Y., Wenk,M.R., Kim,Y., Nairn,A.C. and De Camilli,P.
  TITLE     Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at
            synapses
  JOURNAL   Proc Natl Acad Sci U S A 101 (2), 546-551 (2004)
   PUBMED   14704270
REFERENCE   7  (bases 1 to 6371)
  AUTHORS   Modregger,J., Schmidt,A.A., Ritter,B., Huttner,W.B. and Plomann,M.
  TITLE     Characterization of Endophilin B1b, a brain-specific
            membrane-associated lysophosphatidic acid acyl transferase with
            properties distinct from endophilin A1
  JOURNAL   J Biol Chem 278 (6), 4160-4167 (2003)
   PUBMED   12456676
REFERENCE   8  (bases 1 to 6371)
  AUTHORS   Cuddeback,S.M., Yamaguchi,H., Komatsu,K., Miyashita,T., Yamada,M.,
            Wu,C., Singh,S. and Wang,H.G.
  TITLE     Molecular cloning and characterization of Bif-1. A novel Src
            homology 3 domain-containing protein that associates with Bax
  JOURNAL   J Biol Chem 276 (23), 20559-20565 (2001)
   PUBMED   11259440
REFERENCE   9  (bases 1 to 6371)
  AUTHORS   Pierrat,B., Simonen,M., Cueto,M., Mestan,J., Ferrigno,P. and
            Heim,J.
  TITLE     SH3GLB, a new endophilin-related protein family featuring an SH3
            domain
  JOURNAL   Genomics 71 (2), 222-234 (2001)
   PUBMED   11161816
REFERENCE   10 (bases 1 to 6371)
  AUTHORS   Howard,L., Nelson,K.K., Maciewicz,R.A. and Blobel,C.P.
  TITLE     Interaction of the metalloprotease disintegrins MDC9 and MDC15 with
            two SH3 domain-containing proteins, endophilin I and SH3PX1
  JOURNAL   J Biol Chem 274 (44), 31693-31699 (1999)
   PUBMED   10531379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB038227.1, AF350371.1,
            AL049597.29 and AI936794.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016009.4.
            
            Summary: This gene encodes a SRC homology 3 domain-containing
            protein. The encoded protein interacts with the proapoptotic member
            of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be
            involved in regulating apoptotic signaling pathways. This protein
            may also be involved in maintaining mitochondrial morphology.
            Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) is a predominant transcript
            and encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660805.82142.1,
                                           SRR1660803.103847.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370558.8/ ENSP00000473267.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-245               DB038227.1         7-251
            246-1773            AF350371.1         3-1530
            1774-5866           AL049597.29        60580-64672         c
            5867-6371           AI936794.1         6-510               c
FEATURES             Location/Qualifiers
     source          1..6371
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.3"
     gene            1..6371
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /note="SH3 domain containing GRB2 like, endophilin B1"
                     /db_xref="GeneID:51100"
                     /db_xref="HGNC:HGNC:10833"
                     /db_xref="MIM:609287"
     exon            1..396
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     CDS             325..1422
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Bax-interacting factor 1; SH3-containing protein SH3GLB1;
                     SH3 domain-containing GRB2-like protein B1; SH3-domain
                     GRB2 like endophilin B1; protein phosphatase 1, regulatory
                     subunit 70; testicular tissue protein Li 172"
                     /codon_start=1
                     /product="endophilin-B1 isoform 1"
                     /protein_id="NP_057093.1"
                     /db_xref="CCDS:CCDS710.1"
                     /db_xref="GeneID:51100"
                     /db_xref="HGNC:HGNC:10833"
                     /db_xref="MIM:609287"
                     /translation="MNIMDFNVKKLAADAGTFLSRAVQFTEEKLGQAEKTELDAHLEN
                     LLSKAECTKIWTEKIMKQTEVLLQPNPNARIEEFVYEKLDRKAPSRINNPELLGQYMI
                     DAGTEFGPGTAYGNALIKCGETQKRIGTADRELIQTSALNFLTPLRNFIEGDYKTIAK
                     ERKLLQNKRLDLDAAKTRLKKAKAAETRNSSEQELRITQSEFDRQAEITRLLLEGISS
                     THAHHLRCLNDFVEAQMTYYAQCYQYMLDLQKQLGSFPSNYLSNNNQTSVTPVPSVLP
                     NAIGSSAMASTSGLVITSPSNLSDLKECSGSRKARVLYDYDAANSTELSLLADEVITV
                     FSVVGMDSDWLMGERGNQKGKVPITYLELLN"
     exon            397..538
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            539..667
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            668..801
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            802..894
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            895..984
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1085
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1314
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..6371
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1754..1759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /note="hexamer: AATAAA"
     polyA_site      1774
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /note="major polyA site"
     regulatory      6351..6356
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
                     /note="hexamer: AATAAA"
     polyA_site      6371
                     /gene="SH3GLB1"
                     /gene_synonym="Bif-1; CGI-61; dJ612B15.2; PPP1R70"
ORIGIN      
        1 gtttttccct tgggacccgg gtccacacgg cggggtcgcc cgtccatctc cggctcgccc
       61 gcggggccca tcgtcgacgt tagcggccgt tctccgagcc gactgaccca tccttggcgc
      121 tgccgccgcg cgcttgttct cctccctcgc cccgccttca tcctccccgt tcacggaaac
      181 gacagctgcg gctgcggggc tggcgccgcc tccctccacc taccacgtct gccctcgccg
      241 ctctagccct gcgccccagc ccggccgcgg cacctccgcc tcgccgccgc taggtcggcc
      301 ggctccgccc ggctgccgcc taggatgaat atcatggact tcaacgtgaa gaagctggcg
      361 gccgacgcag gcaccttcct cagtcgcgcc gtgcagttca cagaagaaaa gcttggccag
      421 gctgagaaga cagaattgga tgctcactta gagaacctcc ttagcaaagc tgaatgtacc
      481 aaaatatgga cagaaaaaat aatgaaacaa actgaagtgt tattgcagcc aaatccaaat
      541 gccaggatag aagaatttgt ttatgagaaa ctggatagaa aagctccaag tcgtataaac
      601 aacccagaac ttttgggaca atatatgatt gatgcaggga ctgagtttgg cccaggaaca
      661 gcttatggta atgcccttat taaatgtgga gaaacccaaa aaagaattgg aacagcagac
      721 agagaactga ttcaaacgtc agccttaaat tttcttactc ctttaagaaa ctttatagaa
      781 ggagattaca aaacaattgc taaagaaagg aaactattgc aaaataagag actggatttg
      841 gatgctgcaa aaacgagact aaaaaaggca aaagctgcag aaactagaaa ttcatctgaa
      901 caggaattaa gaataactca aagtgaattt gatcgtcaag cagagattac cagacttctg
      961 ctagagggaa tcagcagtac acatgcccat caccttcgct gtctgaatga ctttgtagaa
     1021 gcccagatga cttactatgc acagtgttac cagtatatgt tggacctcca gaaacaactg
     1081 ggaagttttc catccaatta tcttagtaac aacaatcaga cttctgtgac acctgtacca
     1141 tcagttttac caaatgcgat tggttcttct gccatggctt caacaagtgg cctagtaatc
     1201 acctctcctt ccaacctcag tgaccttaag gagtgtagtg gcagcagaaa ggccagggtt
     1261 ctctatgatt atgatgcagc aaacagtact gaattatcac ttctggcaga tgaggtgatc
     1321 actgtgttca gtgttgttgg aatggattca gactggctaa tgggggaaag gggaaaccag
     1381 aagggcaagg tgccaattac ctacttagaa ctgctcaatt aagtaggtgg actatggaaa
     1441 ggttgcccat catgactttg tatttatata caattaactc taaataaagc aggttaagta
     1501 tcttccatgt taatgtgtta agagactgaa aataccagcc atcagaaact ggcctttctg
     1561 ccaataaagt tgcatggtaa atatttcatt acagaattta tgttagagct ttcatgccaa
     1621 gaatgttttc ttacaaaatt ctctttttat tgaggtttca ctaataagca gcttctactt
     1681 ttgagcctca acttaaagca gaactgtttt ctactggatt tttcattaac agcaagcttt
     1741 ttcttttatg taaaataaat ctattgtgaa ttgatatcag cgactcattt attaggtata
     1801 aataatagcc aaagaataaa attaaaattt attttaaact ttcggtctta aaaagagctg
     1861 taggatataa acctcttttg tgaaaagtag aattttctga atgctttcat agacaaaaac
     1921 gcatttaaac tatgtttacc tggttttcca acagaaatca aatgatttta atattatgtt
     1981 ttgatgggtt attttcagag ttgtttggtt ttttaaacac tactgaatgg tttcttttaa
     2041 atttaagaac aactagttct tgaaaagcaa taccgtattt ctctgataaa tttgtagtta
     2101 aggttctaga aaatctagga caaatttact tcattaaaca taaagttttt aagattattc
     2161 agttggcaca atttaatgca taattgggat tggatccatt tactgtactg tggtacagta
     2221 aagagaatgt gttcttattg aacagcagat ttgtatacaa atacggaata atgcaactac
     2281 attataaatt gtatacgaac aaaataaatt gggtcactct gagcttacta ttaaaacatt
     2341 gaaaatttat taatgaacac aggctatctt gatgaggatc tctgcttatg aaacacatac
     2401 taatgaaatt attagtgaca cattggaagc tagaaaattg ctgttggggc cattgctata
     2461 aatcattgtt tccatgttaa gacttctgtt ctaattcatt cattcaacaa acatttgttg
     2521 agggccagat actgtgctgg tcaactgggg atactgtcct gaacaatatg cacacagttc
     2581 ttgcccctgc agagcttaaa gaccattaaa ggatacagaa aattaagcaa ttatcctata
     2641 gtaggattcg tggtgtgatg gggaaaatac aaggtactgt atttgggagt catgtaactc
     2701 cagttttggg agtgagagag ggtctgggga agaactgttc cagataaaaa gatgtgtaac
     2761 caagatagca tagcacattc tgacaactaa agcaatttac tctaacttaa gcatgaagta
     2821 caaaagtata gttcatttat tgagggaatg ttaagctatt aaaatgatac tttttggtac
     2881 ttttaaaaaa atgaatactt aaacaccgtt ttaaaatttt gtgttaagag ctcctaataa
     2941 gaacttggta aacatgttga caatttaact cacagtctaa actttaaaag tagtagttac
     3001 ccttttattt ctgtgccatg agacaaattc ttctgcagtt ttatagttgt acaagatgtt
     3061 ttgactcact ctcaattgcc atattcttaa agaaaccctg aaaagctgct caagctggtc
     3121 agttttctgt aaaaccaagt aaatgaaatt ttctctcccc tcagaaagga agttctacag
     3181 cctagagtac catctattgt gttttataag tccagattta ggctttgaaa gatcatacca
     3241 aaacttcaga tcgacttaaa cagcaactat gaattaggtt tatgggaaat gtagtaatac
     3301 aggggaaaga atatcggtaa tggagtgaaa tggtcctggg ttcaaatcca gtcttcctca
     3361 catattgtgc tctttaagct tcaaatgaga tgtataactg ccttttcctt accagtaaaa
     3421 tgaggacaat aattatgaca ccatagggtg gttgtgagga ttagcaaatg ttatcttgta
     3481 tttcaggtgc ctttcaggga aaggcttggc acatagtaaa cacatcctgt aaatatcagt
     3541 ttccccttgt tagcccctgt agcatcctga cctaccaagt ctataggcct tgcatatcac
     3601 tgtgcaccag agatacctct tttacatctg ggctctgttt tctctctatc aatcctatcc
     3661 tccaccctct ttaaatcaga ccccaggttt aaccttccca cagtcagtat aaatcatttt
     3721 tcagaacttt cagctttcca tcaagtgaaa gttgatttta gttacccagt aatgtacaga
     3781 aaccttcaat aatgttaagc ttcaaaggct tctggtacgt ttgtctacca cagaaccacc
     3841 acaatatata tgcttgttct taggtttatt gctttttatt ttaatggggt ttggttgttt
     3901 gggttttatt ttggttttgg cttattttaa agtcaagttt agtttttact caggtaaagg
     3961 cctgaagttt cttgggcgtg gaagaaaaag cttgggaagc ctattaattc atggtgcagt
     4021 tcagaattgt ttaaataagc tctgtgccac tgagcttaat ctgaaagtat agtgacatgt
     4081 gaaggatgca catatgaatg aaaaactaaa ataattgtag gctcttctat aaatgaaaaa
     4141 aaaagtgatt ggattgtgtc tacctttttc ctcaaagtaa tctaacctaa acggtcatgg
     4201 tgttaaaact ttttatggtg ctaatcagaa aaattgatgt tgcaagaaat gaggtctcaa
     4261 aaatgggaat gtgcctcctc actctgcgtc acatgggaaa taaatcctga ggccaggatc
     4321 accagtgggg tagagtcatc ttcatagtct cctgttatcc tccccctgaa caaagaacaa
     4381 agtgagactg ggaagctagt gttggggaaa catttctggg ataaactgtg gagtggagaa
     4441 gacaatggag ggcaaggcaa aaacccacag acttgtttac ccatagaggc cccactcacc
     4501 tccatgctga cagaattcca gaaaaattcc ttccctatct cccaaacacc tgaaattctg
     4561 aaatattgcc ctactattta gcactttaag cttcagtgag gtgctgtaat ggagagatag
     4621 cttcatagtt tagcctatag ccaactttgc ctcaagacct ccagataaga tgaagtggct
     4681 tttacctcat gtgagtctca aacgctggag agagagttcc acaaccaccc ctgccctttc
     4741 tcccatatta cgctcattag aaagtctact cagggctggg tgccgtggct catgcctgta
     4801 atcccagcac tttggaggct gaggcgggtg gatcatctga ggtcaggagt tcgagaccag
     4861 cctggccaac atggggaaac cctgtctcta ctgaaaatat aaaaattagc cgggcatggt
     4921 ggcgtgcacc tgtaattcca gctactcggg aggctgaggc aggagaatca cttgaacccc
     4981 agaggcagag gctacagtga gccaagattg caccactgca ctccaacctg ggtgatagaa
     5041 taagactctt gtctcaagga aagaaaaaat gtctactcag tagagcagtg attggcaaag
     5101 tgtgagaccc cagaccggca atattggcat ctcctggaga cttgtttaaa atgctgatta
     5161 ctattttcaa gaactttcta ccttcatttt tacttatttt ttgttttcaa gggctcatgg
     5221 aatcagtctt ccatgtgaca gctttttaaa tattttaaga caaaaactga gtcttctaat
     5281 cttaattgtg ttctagcagt agtcattgta attatagtta tttttataat ttatttgttt
     5341 agtgtatatc tgtcactcta gaatgtaggc tccctgagat aaaaactata attcttttga
     5401 tggcagttac attcccaact cttagcacaa gatctaggac atagtatgaa ctcaataaat
     5461 ttttgttgaa tgaaagaaaa atgcaaattt ataagccttt tcagagacct actgaatcaa
     5521 actctgagag tggagcccag caatctgttg taaaagctgt ttgagtaata ctgttgcact
     5581 ctaagcttga gaaccactgc aatagaacta agagaacatt catttcacct tcaggcctat
     5641 tctctgacat cacttgaaaa atcctctctg ccttctgtaa cccttaacca acaacagtgc
     5701 cctgtccatg taggggaaac ttctgggctg tattacaagt gggtaggaag gtataaggat
     5761 atcatagtgg gaagtattgc ttagaatgcc agtacttgtt tgctgtggaa ggtttctagg
     5821 aatggattgc ttagtctaaa gtaagcacta ccaccatcca cgttttcact caacacagtg
     5881 ccttttaatt ggtgactaac atcaaaacac cttgacaaac cgttaaaaca gtatcagaaa
     5941 ccatgtgtac atccctgtgc ctcttagatt gctaagttct gctctcattc ttacttcaaa
     6001 ggacactttt taaagaattg ttaatgcttt tttataatac aagtcatagc cctgttggca
     6061 aaaagaaaaa agattcagtg agaaagaaaa atcactgata attccatcat ccagggagaa
     6121 ccactgttat ttaagtatat ggccttccag acttttctgt gcatttatag atatttttaa
     6181 tgggatcaaa gtgtacatac tgttttgtaa ctttttttca ctcaacaata ccatgactgt
     6241 cttgctgtgt caagtatatt tctacatctc ttaatggctg catgatattc catcatatgt
     6301 gccacatttt attaaactac tgttcaattt ttaggtttcc aactttcatt aataaagtgc
     6361 tttaaagaac a
//
