LOCUS       NM_012278               1280 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens integrin subunit beta 1 binding protein 2 (ITGB1BP2),
            transcript variant 1, mRNA.
ACCESSION   NM_012278
VERSION     NM_012278.4
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 1280)
  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   2  (bases 1 to 1280)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1280)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 1280)
  AUTHORS   Taipale,M., Tucker,G., Peng,J., Krykbaeva,I., Lin,Z.Y., Larsen,B.,
            Choi,H., Berger,B., Gingras,A.C. and Lindquist,S.
  TITLE     A quantitative chaperone interaction network reveals the
            architecture of cellular protein homeostasis pathways
  JOURNAL   Cell 158 (2), 434-448 (2014)
   PUBMED   25036637
REFERENCE   5  (bases 1 to 1280)
  AUTHORS   Ferretti,R., Sbroggio,M., Di Savino,A., Fusella,F., Bertero,A.,
            Michowski,W., Tarone,G. and Brancaccio,M.
  TITLE     Morgana and melusin: two fairies chaperoning signal transduction
  JOURNAL   Cell Cycle 10 (21), 3678-3683 (2011)
   PUBMED   22037254
  REMARK    Review article
REFERENCE   6  (bases 1 to 1280)
  AUTHORS   Barki-Harrington,L. and Rockman,H.A.
  TITLE     Sensing heart stress
  JOURNAL   Nat Med 9 (1), 19-20 (2003)
   PUBMED   12514714
REFERENCE   7  (bases 1 to 1280)
  AUTHORS   Brancaccio,M., Fratta,L., Notte,A., Hirsch,E., Poulet,R.,
            Guazzone,S., De Acetis,M., Vecchione,C., Marino,G., Altruda,F.,
            Silengo,L., Tarone,G. and Lembo,G.
  TITLE     Melusin, a muscle-specific integrin beta1-interacting protein, is
            required to prevent cardiac failure in response to chronic pressure
            overload
  JOURNAL   Nat Med 9 (1), 68-75 (2003)
   PUBMED   12496958
  REMARK    GeneRIF: Studies in mouse show that melusin prevents cardiac
            dilation during chronic pressure overload by specifically sensing
            mechanical stress.
REFERENCE   8  (bases 1 to 1280)
  AUTHORS   Koistinen,P. and Heino,J.
  TITLE     The selective regulation of alpha Vbeta 1 integrin expression is
            based on the hierarchical formation of alpha V-containing
            heterodimers
  JOURNAL   J Biol Chem 277 (27), 24835-24841 (2002)
   PUBMED   11997396
REFERENCE   9  (bases 1 to 1280)
  AUTHORS   Brancaccio,M., Guazzone,S., Menini,N., Sibona,E., Hirsch,E., De
            Andrea,M., Rocchi,M., Altruda,F., Tarone,G. and Silengo,L.
  TITLE     Melusin is a new muscle-specific interactor for beta(1) integrin
            cytoplasmic domain
  JOURNAL   J Biol Chem 274 (41), 29282-29288 (1999)
   PUBMED   10506186
REFERENCE   10 (bases 1 to 1280)
  AUTHORS   Yan,Z., Chen,M., Perucho,M. and Friedman,E.
  TITLE     Oncogenic Ki-ras but not oncogenic Ha-ras blocks integrin
            beta1-chain maturation in colon epithelial cells
  JOURNAL   J Biol Chem 272 (49), 30928-30936 (1997)
   PUBMED   9388239
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA895605.1 and AF110225.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012278.3.
            
            Summary: This gene encodes a protein with two cysteine and
            histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs,
            putative SH2 and SH3 domain binding motifs, and an acidic region at
            the C-terminus that can bind calcium. Two hybrid analysis showed
            that this protein interacts with the cytoplasmic domain of the beta
            1 integrin subunit and is thought to act as a chaperone protein.
            Studies in the mouse ortholog of this gene indicate that absence of
            this gene in mouse results in failed cardiac hypertrophy in
            response to mechanical stress. Alternative splicing results in
            multiple transcript variants encoding different isoforms, including
            an isoform that lacks several domains, including one of the CHORD
            domains. [provided by RefSeq, May 2017].
            
            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 :: SRR5189655.133193.1,
                                           SRR5189655.208466.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373829.8/ ENSP00000362935.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                DA895605.1         6-49
            45-1280             AF110225.1         1-1236
FEATURES             Location/Qualifiers
     source          1..1280
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1280
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /note="integrin subunit beta 1 binding protein 2"
                     /db_xref="GeneID:26548"
                     /db_xref="HGNC:HGNC:6154"
                     /db_xref="MIM:300332"
     exon            1..121
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1101
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /note="isoform 1 is encoded by transcript variant 1;
                     integrin beta-1-binding protein 2; integrin beta 1 binding
                     protein (melusin) 2"
                     /codon_start=1
                     /product="integrin beta-1-binding protein 2 isoform 1"
                     /protein_id="NP_036410.1"
                     /db_xref="CCDS:CCDS14411.1"
                     /db_xref="GeneID:26548"
                     /db_xref="HGNC:HGNC:6154"
                     /db_xref="MIM:300332"
                     /translation="MSLLCRNKGCGQHFDPNTNLPDSCCHHPGVPIFHDALKGWSCCR
                     KRTVDFSEFLNIKGCTMGPHCAEKLPEAPQPEGPATSSSLQEQKPLNVIPKSAETLRR
                     ERPKSELPLKLLPLNISQALEMALEQKELDQEPGAGLDSLIRTGSSCQNPGCDAVYQG
                     PESDATPCTYHPGAPRFHEGMKSWSCCGIQTLDFGAFLAQPGCRVGRHDWGKQLPASC
                     RHDWHQTDSLVVVTVYGQIPLPAFNWVKASQTELHVHIVFDGNRVFQAQMKLWGVINV
                     EQSSVFLMPSRVEISLVKADPGSWAQLEHPDALAKKARAGVVLEMDEEESDDSDDDLS
                     WTEEEEEEEAMGE"
     exon            122..171
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            172..228
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            229..374
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            375..469
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            470..525
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            526..596
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            597..696
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            697..810
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            811..873
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1280
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1255..1260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /note="hexamer: AATAAA"
     polyA_site      1280
                     /gene="ITGB1BP2"
                     /gene_synonym="CHORDC3; ITGB1BP; MELUSIN; MSTP015"
                     /note="major polyA site"
ORIGIN      
        1 attcggcagc cagactcctt gaaataccct ttcagtaatc attcaaccaa cgcttccatg
       61 tctctactct gtcgtaacaa aggctgtggg cagcactttg accctaatac caaccttcct
      121 gattcctgtt gccatcaccc tggggtccca atcttccatg atgcacttaa gggttggtcc
      181 tgctgccgaa agcgaactgt agatttctct gagttcttaa acatcaaggg ctgtactatg
      241 ggaccacact gtgctgagaa gcttcctgag gcccctcaac ctgaaggccc tgctacaagc
      301 agttcacttc aggagcaaaa acctctgaat gtgattccaa agtcagcaga gaccttgcgc
      361 cgggagaggc ccaagtcaga gttgcctctg aagctgctgc cgctaaatat atcccaagcc
      421 ctggaaatgg cattggaaca gaaggaatta gaccaggaac ctggggcagg acttgacagt
      481 ctgatccgga ctggttccag ctgccagaac ccaggatgtg atgctgttta ccaaggccct
      541 gagagtgatg ctactccatg tacctaccac ccaggagcac cccgattcca tgaggggatg
      601 aagtcttgga gctgttgtgg catccagacc ctggattttg gggcattctt ggcacaacca
      661 gggtgcagag tcggtagaca tgactggggg aagcagctcc cagcatcttg ccgccatgat
      721 tggcaccaga cagattcctt agtagtggtg actgtatatg gccagattcc acttcctgcg
      781 tttaactggg tgaaggccag tcaaactgag cttcatgtcc acattgtctt tgatggtaac
      841 cgtgtgttcc aagcacagat gaagctctgg ggggtcataa acgtggagca gagctctgtc
      901 ttcttgatgc catctcgggt tgaaatctcc ctggtcaagg ctgacccagg atcctgggcc
      961 cagctggagc accctgatgc actagctaag aaggctaggg caggggttgt gttagagatg
     1021 gatgaggaag aatctgacga ttcagatgat gatctgagct ggacagagga ggaggaagag
     1081 gaggaagcaa tgggggaata gtgacaccag acagttgatg tctagatagg acctcaatga
     1141 ttcccttaga atcttagata ccaggatatt gttggccatg tggcatcatt gagcagcagg
     1201 aggctgaagg aggggagaac aaaattgtcc aaaccatgct gtttttttcc cttaaataaa
     1261 tcttgtattc ttcagtttca
//
