LOCUS       NM_001012750            3515 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens abl interactor 1 (ABI1), transcript variant 2, mRNA.
ACCESSION   NM_001012750
VERSION     NM_001012750.3
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 3515)
  AUTHORS   Petersen,M. and Dubielecka,P.
  TITLE     Adaptor protein Abelson interactor 1 in homeostasis and disease
  JOURNAL   Cell Commun Signal 22 (1), 468 (2024)
   PUBMED   39354505
  REMARK    GeneRIF: Adaptor protein Abelson interactor 1 in homeostasis and
            disease.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3515)
  AUTHORS   Jin,M., Xie,M., Liu,Y., Song,H., Zhang,M., Li,W., Li,X., Jia,N.,
            Dong,L., Lu,Q., Xue,F., Yan,L. and Yu,Q.
  TITLE     Circulating miR-30e-3p induces disruption of neurite development in
            SH-SY5Y cells by targeting ABI1, a novel biomarker for
            schizophrenia
  JOURNAL   J Psychiatr Res 174, 84-93 (2024)
   PUBMED   38626565
  REMARK    GeneRIF: Circulating miR-30e-3p induces disruption of neurite
            development in SH-SY5Y cells by targeting ABI1, a novel biomarker
            for schizophrenia.
REFERENCE   3  (bases 1 to 3515)
  AUTHORS   Lin,T., Guo,J., Peng,Y., Li,M., Liu,Y., Yu,X., Wu,N. and Yu,W.
  TITLE     Pan-cancer transcriptomic data of ABI1 transcript variants and
            molecular constitutive elements identifies novel cancer metastatic
            and prognostic biomarkers
  JOURNAL   Cancer Biomark 39 (1), 49-62 (2024)
   PUBMED   37545215
  REMARK    GeneRIF: Pan-cancer transcriptomic data of ABI1 transcript variants
            and molecular constitutive elements identifies novel cancer
            metastatic and prognostic biomarkers.
REFERENCE   4  (bases 1 to 3515)
  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   5  (bases 1 to 3515)
  AUTHORS   Fan,P.D. and Goff,S.P.
  TITLE     Abl interactor 1 binds to sos and inhibits epidermal growth factor-
            and v-Abl-induced activation of extracellular signal-regulated
            kinases
  JOURNAL   Mol Cell Biol 20 (20), 7591-7601 (2000)
   PUBMED   11003655
REFERENCE   6  (bases 1 to 3515)
  AUTHORS   Courtney,K.D., Grove,M., Vandongen,H., Vandongen,A., LaMantia,A.S.
            and Pendergast,A.M.
  TITLE     Localization and phosphorylation of Abl-interactor proteins, Abi-1
            and Abi-2, in the developing nervous system
  JOURNAL   Mol Cell Neurosci 16 (3), 244-257 (2000)
   PUBMED   10995551
REFERENCE   7  (bases 1 to 3515)
  AUTHORS   Scita,G., Nordstrom,J., Carbone,R., Tenca,P., Giardina,G.,
            Gutkind,S., Bjarnegard,M., Betsholtz,C. and Di Fiore,P.P.
  TITLE     EPS8 and E3B1 transduce signals from Ras to Rac
  JOURNAL   Nature 401 (6750), 290-293 (1999)
   PUBMED   10499589
REFERENCE   8  (bases 1 to 3515)
  AUTHORS   Taki,T., Shibuya,N., Taniwaki,M., Hanada,R., Morishita,K.,
            Bessho,F., Yanagisawa,M. and Hayashi,Y.
  TITLE     ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL
            gene in acute myeloid leukemia with t(10;11)(p11.2;q23)
  JOURNAL   Blood 92 (4), 1125-1130 (1998)
   PUBMED   9694699
REFERENCE   9  (bases 1 to 3515)
  AUTHORS   Ziemnicka-Kotula,D., Xu,J., Gu,H., Potempska,A., Kim,K.S.,
            Jenkins,E.C., Trenkner,E. and Kotula,L.
  TITLE     Identification of a candidate human spectrin Src homology 3
            domain-binding protein suggests a general mechanism of association
            of tyrosine kinases with the spectrin-based membrane skeleton
  JOURNAL   J Biol Chem 273 (22), 13681-13692 (1998)
   PUBMED   9593709
REFERENCE   10 (bases 1 to 3515)
  AUTHORS   Biesova,Z., Piccoli,C. and Wong,W.T.
  TITLE     Isolation and characterization of e3B1, an eps8 binding protein
            that regulates cell growth
  JOURNAL   Oncogene 14 (2), 233-241 (1997)
   PUBMED   9010225
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB040151.1, AF006516.1 and
            AL390961.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_001012750.2.
            
            Summary: This gene encodes a member of the Abelson-interactor
            family of adaptor proteins. These proteins facilitate signal
            transduction as components of several multiprotein complexes, and
            regulate actin polymerization and cytoskeletal remodeling through
            interactions with Abelson tyrosine kinases. The encoded protein
            plays a role in macropinocytosis as a component of the WAVE2
            complex, and also forms a complex with EPS8 and SOS1 that mediates
            signal transduction from Ras to Rac. This gene may play a role in
            the progression of several malignancies including melanoma, colon
            cancer and breast cancer, and a t(10;11) chromosomal translocation
            involving this gene and the MLL gene has been associated with acute
            myeloid leukemia. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene, and a
            pseudogene of this gene is located on the long arm of chromosome
            14. [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            coding exon, compared to variant 1. The resulting protein (isoform
            b) has the same N- and C-termini but is shorter compared to isoform
            a.
            
            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 :: SRR1803616.172050.1,
                                           SRR14038194.2918741.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376140.4/ ENSP00000365310.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1092              AB040151.1         73-1164
            1093-2128           AF006516.1         1061-2096
            2129-3515           AL390961.17        135554-136940       c
FEATURES             Location/Qualifiers
     source          1..3515
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..3515
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="abl interactor 1"
                     /db_xref="GeneID:10006"
                     /db_xref="HGNC:HGNC:11320"
                     /db_xref="MIM:603050"
     exon            1..212
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1541
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="isoform b is encoded by transcript variant 2; nap1
                     binding protein; interactor protein AblBP4; Abl-interactor
                     protein 1 long; Abelson interactor 1; abl-binding protein
                     4; eps8 SH3 domain-binding protein; spectrin SH3
                     domain-binding protein 1"
                     /codon_start=1
                     /product="abl interactor 1 isoform b"
                     /protein_id="NP_001012768.1"
                     /db_xref="CCDS:CCDS31171.1"
                     /db_xref="GeneID:10006"
                     /db_xref="HGNC:HGNC:11320"
                     /db_xref="MIM:603050"
                     /translation="MAELQMLLEEEIPSGKRALIESYQNLTRVADYCENNYIQATDKR
                     KALEETKAYTTQSLASVAYQINALANNVLQLLDIQASQLRRMESSINHISQTVDIHKE
                     KVARREIGILTTNKNTSRTHKIIAPANMERPVRYIRKPIDYTVLDDVGHGVKWLKAKH
                     GNNQPARTGTLSRTNPPTQKPPSPPMSGRGTLGRNTPYKTLEPVKPPTVPNDYMTSPA
                     RLGSQHSPGRTASLNQRPRTHSGSSGGSGSRENSGSSSIGIPIAVPTPSPPTIGPAAP
                     GSAPGSQYGTMTRQISRHNSTTSSTSSGGYRRTPSVTAQFSAQPHVNGGPLYSQNSIS
                     IAPPPPPMPQLTPQIPLTGFVARVQENIADSPTPPPPPPPDDIPMFDDSPPPPPPPPV
                     DYEDEEAAVVQYNDPYADGDPAWAPKNYIEKVVAIYDYTKDKDDELSFMEGAIIYVIK
                     KNDDGWYEGVCNRVTGLFPGNYVESIMHYTD"
     exon            213..380
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            381..557
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            558..572
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            573..673
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            674..814
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..915
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1092
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1179
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1365
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..3515
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3011..3016
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3035
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="major polyA site"
     regulatory      3196..3201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: AATAAA"
     polyA_site      3219
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="major polyA site"
     regulatory      3236..3241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: AATATA"
     polyA_site      3258
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
     regulatory      3499..3504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
                     /note="hexamer: AATAAA"
     polyA_site      3515
                     /gene="ABI1"
                     /gene_synonym="ABI-1; ABLBP4; E3B1; NAP1BP; SSH3BP;
                     SSH3BP1"
ORIGIN      
        1 ggtttgtatc cgggctgtga ggtgctcgga gcctcggcgg accttgctgc ctctgtctct
       61 ttaacgcgag aggaagcgat gcagaggggt ggaaaatggc agagctgcag atgttactag
      121 aggaggagat cccgtctggc aagagggcgc tgatcgagag ttaccagaac ctgactcggg
      181 tggcagacta ctgtgaaaac aactacatac aggctacaga caagagaaaa gctttagagg
      241 agaccaaagc ctatacaacc caatctctag ctagtgttgc ttatcaaata aatgcattgg
      301 ccaacaatgt actccagttg ctggatatcc aagcctctca gcttcggaga atggagtctt
      361 ccatcaatca tatctcacag actgtggata ttcataagga gaaagtggca cgaagagaga
      421 ttggtatttt gacaacaaat aagaatacat caagaactca caaaataata gcacctgcga
      481 atatggagcg ccctgtaagg tatattcgga aacctatcga ttacacagtt ctggatgatg
      541 tgggccatgg tgtcaagtgg ctaaaagcca agcatggaaa taaccagcct gcaagaactg
      601 gcacactgtc gagaacaaat cctcctactc agaaaccgcc aagtcctccc atgtcaggcc
      661 ggggaacact gggacggaat actccttata aaaccctgga acctgttaaa cccccaacag
      721 ttcctaatga ctatatgacc agtcctgcta ggcttggaag tcagcatagt ccaggcagga
      781 cagcatcttt aaatcagaga ccaaggacac acagtggaag tagtggagga agtggaagtc
      841 gagaaaacag tggtagcagt agtattggca ttcccattgc tgtgcctaca ccttcgccac
      901 ccactattgg accagcagcc ccgggctcag ctcctggttc ccagtatggc acaatgacca
      961 ggcagatatc tcgacacaac tctactactt cttcgacatc ttctggtgga tacagacgaa
     1021 ctccctctgt gactgctcaa ttttctgctc agcctcatgt taatggaggt ccactttatt
     1081 ctcaaaattc aatttctatt gctccacccc ctccccctat gcctcagttg actccacaga
     1141 tacctctcac aggcttcgtg gccagggtgc aggaaaacat tgctgatagt ccaactccac
     1201 cgccaccacc tccaccagat gacattccca tgtttgatga ctctccacct cccccaccac
     1261 caccaccagt ggattatgaa gatgaggagg ctgcagtagt tcagtataat gatccatatg
     1321 cagatgggga tcctgcttgg gcccccaaga attatattga gaaagttgtt gcaatatatg
     1381 attatacaaa agacaaggat gatgagctgt catttatgga gggtgcaatc atttatgtta
     1441 taaagaagaa tgatgatggc tggtatgaag gagtctgcaa tcgagtgact ggtctgttcc
     1501 ctgggaacta tgttgaatca atcatgcact atactgatta attttttttt ttcttttgaa
     1561 gtagattctt attactcagt catactgtgg gactattatg gttaacagaa ctgtcttaat
     1621 atgttttaaa atgtgcccat attttcagaa catgctgttt tattggtaaa ttgaatgtct
     1681 acctgtaagc ataaatcttt gaggcagttt atgtattgct gaatagcaat ttatacaaga
     1741 agctgtccat aactgattat gcttatgtac ttacttacac atttttaact ttatgaccag
     1801 cctaaatatt ctgggggaag tggggtataa tatttaacga atcatgattc agattgtacc
     1861 attacatgtt tcagtgcagc atggttacta acgctatgtc agactaatat taaaatcaga
     1921 aaatttaaat gctggtgctg gtcagacttt ttttgttaga ttctctcatt taaaaaaaat
     1981 actgtttgtt taaagcatgc ataaaaattt atgtattgaa atatacttaa aaattcaaga
     2041 tgcttcccat ttgtgtaata tttacctgga ggactcgtac ttaggtgtct taacgtgaat
     2101 tgagtctcca aggtctccat gtgaaacaag caaaaagaga attatctgta atgttgtaat
     2161 ttgtacctaa gttttttaat gagtgaaatt tgcattataa actttttcca ttcataaata
     2221 cataagtgaa ccaaaggttt ttgtcctttc cttcactgat ttgctttaaa aaaaataaaa
     2281 gataatgatt tattgcagaa ttatgattct attttctcaa tatgttaact tggaaaaaaa
     2341 ttttagcctt atcttaatct gtcccaacag caatgtgacg gatttttgca gattcaaaat
     2401 ctgcaatggt tatttacaag tcaatctact gaattccttt tttaaataat cttttgaaac
     2461 taagaaaatg tgtcaaattg tgtgcattca ttctgtaggt aaaattctta aggattgcca
     2521 tgtcagtcct tcagttgtac agtgaactgt tgtacactgg ttcaatgaaa ggaagttaaa
     2581 agtacctttt acatattgta aaagtggata cagttgattt gtgagtaggc actctttaat
     2641 ccattacctg gcactagcaa cattagaatt ttaaaataaa ataattggga aagaaggtgg
     2701 gtcatgtatt aatcagtgaa cagagattta cctaaccaac agacttggat tgtcttttga
     2761 cataatcaaa atgcaacaca tgcactttgt gtgtctcctc ttaattgaag ggagggctga
     2821 gggatgtttt ctcttcttgt cttgtgtata attctctatt gcttaggata ttaaagtaga
     2881 gcactcaagt gtgggtttct gtgttattga ggatttgttt ggaattcaaa ttacagttat
     2941 gtactggatg ctacagactt ataacagcat agtgaatggt aagactagtg caaaacagtt
     3001 atttctgaaa attaaagacc attattgcta ccaaatcaat gtgactattt catatgcatt
     3061 ttgcctttgt taattttaaa caaacaaagt atcattagtg atcagctagc taccttctac
     3121 tttccatttt tcaagtggat tgttctctta atttgtatat aacctgttgt ctaaatttta
     3181 tgtacagtct tttataataa accattctcc tatatgaaat tttggatact gttaaaatat
     3241 aactcatgtg gacttcaatg cagacttcac atttttctga cctttactcc tacggtaaat
     3301 caagacaaac catttgaatt ttaacattgg ttatttattt gtgtaatggc cttacatgtg
     3361 gatattaaca gtgtaaacaa taccacatat aaccatcaag ataccttgat tataatttat
     3421 aggactagaa tgacagattc aggtggttta ttaattacat ttaaaaagtt ttctgaaaaa
     3481 acttttgcaa taaaaaaaaa taaattgccc atcaa
//
