LOCUS       NM_016428               1629 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens ABI family member 3 (ABI3), transcript variant 1,
            mRNA.
ACCESSION   NM_016428
VERSION     NM_016428.3
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 1629)
  AUTHORS   Turner,A.K., Shaw,B.C., Simpson,J.F. and Estus,S.
  TITLE     Identification and Quantitation of Novel ABI3 Isoforms Relative to
            Alzheimer's Disease Genetics and Neuropathology
  JOURNAL   Genes (Basel) 13 (9), 1607 (2022)
   PUBMED   36140776
  REMARK    GeneRIF: Identification and Quantitation of Novel ABI3 Isoforms
            Relative to Alzheimer's Disease Genetics and Neuropathology.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1629)
  AUTHORS   Cao,M., Liu,J., Zhang,X., Yang,T., Wang,Y., Hou,Y., Song,Q.,
            Cui,Y., Wang,Y. and Wang,P.
  TITLE     ABI3 Is a Novel Early Biomarker of Alzheimer's Disease
  JOURNAL   J Alzheimers Dis 87 (1), 335-344 (2022)
   PUBMED   35275543
  REMARK    GeneRIF: ABI3 Is a Novel Early Biomarker of Alzheimer's Disease.
REFERENCE   3  (bases 1 to 1629)
  AUTHORS   Strickland,S.L., Morel,H., Prusinski,C., Allen,M., Patel,T.A.,
            Carrasquillo,M.M., Conway,O.J., Lincoln,S.J., Reddy,J.S.,
            Nguyen,T., Malphrus,K.G., Soto,A.I., Walton,R.L., Crook,J.E.,
            Murray,M.E., Boeve,B.F., Petersen,R.C., Lucas,J.A., Ferman,T.J.,
            Uitti,R.J., Wszolek,Z.K., Ross,O.A., Graff-Radford,N.R.,
            Dickson,D.W. and Ertekin-Taner,N.
  TITLE     Association of ABI3 and PLCG2 missense variants with disease risk
            and neuropathology in Lewy body disease and progressive
            supranuclear palsy
  JOURNAL   Acta Neuropathol Commun 8 (1), 172 (2020)
   PUBMED   33092647
  REMARK    GeneRIF: Association of ABI3 and PLCG2 missense variants with
            disease risk and neuropathology in Lewy body disease and
            progressive supranuclear palsy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1629)
  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   5  (bases 1 to 1629)
  AUTHORS   Olive,C., Ibanez,L., Farias,F.H.G., Wang,F., Budde,J.P.,
            Norton,J.B., Gentsch,J., Morris,J.C., Li,Z., Dube,U.,
            Del-Aguila,J., Bergmann,K., Bradley,J., Benitez,B.A., Harari,O.,
            Fagan,A., Ances,B., Cruchaga,C. and Fernandez,M.V.
  TITLE     Examination of the Effect of Rare Variants in TREM2, ABI3, and
            PLCG2 in LOAD Through Multiple Phenotypes
  JOURNAL   J Alzheimers Dis 77 (4), 1469-1482 (2020)
   PUBMED   32894242
  REMARK    GeneRIF: Examination of the Effect of Rare Variants in TREM2, ABI3,
            and PLCG2 in LOAD Through Multiple Phenotypes.
REFERENCE   6  (bases 1 to 1629)
  AUTHORS   Hirao,N., Sato,S., Gotoh,T., Maruoka,M., Suzuki,J., Matsuda,S.,
            Shishido,T. and Tani,K.
  TITLE     NESH (Abi-3) is present in the Abi/WAVE complex but does not
            promote c-Abl-mediated phosphorylation
  JOURNAL   FEBS Lett 580 (27), 6464-6470 (2006)
   PUBMED   17101133
  REMARK    GeneRIF: NESH (Abi-3), like Abi-1 and Abi-2, is a component of the
            Abi/WAVE complex, but likely plays a different role in the
            regulation of c-Abl.
REFERENCE   7  (bases 1 to 1629)
  AUTHORS   Ichigotani,Y., Fujii,K., Hamaguchi,M. and Matsuda,S.
  TITLE     In search of a function for the E3B1/Abi2/Argbp1/NESH family
            (Review)
  JOURNAL   Int J Mol Med 9 (6), 591-595 (2002)
   PUBMED   12011975
  REMARK    Review article
REFERENCE   8  (bases 1 to 1629)
  AUTHORS   Ichigotani,Y., Yokozaki,S., Fukuda,Y., Hamaguchi,M. and Matsuda,S.
  TITLE     Forced expression of NESH suppresses motility and metastatic
            dissemination of malignant cells
  JOURNAL   Cancer Res 62 (8), 2215-2219 (2002)
   PUBMED   11956071
  REMARK    GeneRIF: Forced expression of NESH suppresses motility and
            metastatic dissemination of malignant cells.
REFERENCE   9  (bases 1 to 1629)
  AUTHORS   Matsuda,S., Iriyama,C., Yokozaki,S., Ichigotani,Y., Shirafuji,N.,
            Yamaki,K., Hayakawa,T. and Hamaguchi,M.
  TITLE     Cloning and sequencing of a novel human gene that encodes a
            putative target protein of Nesh-SH3
  JOURNAL   J Hum Genet 46 (8), 483-486 (2001)
   PUBMED   11501947
REFERENCE   10 (bases 1 to 1629)
  AUTHORS   Miyazaki,K., Matsuda,S., Ichigotani,Y., Takenouchi,Y., Hayashi,K.,
            Fukuda,Y., Nimura,Y. and Hamaguchi,M.
  TITLE     Isolation and characterization of a novel human gene (NESH) which
            encodes a putative signaling molecule similar to e3B1 protein
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 237-241 (2000)
   PUBMED   10978530
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC069454.22 and AC004797.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016428.2.
            
            Summary: This gene encodes a member of an adaptor protein family.
            Members of this family encode proteins containing a homeobox
            homology domain, proline rich region and Src-homology 3 (SH3)
            domain, and are components of the Abi/WAVE complex which regulates
            actin polymerization. The encoded protein inhibits ectopic
            metastasis of tumor cells as well as cell migration. This may be
            accomplished through interaction with p21-activated kinase.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2013].
            
            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 :: SRR3476690.250957.1, AB037886.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225941.6/ ENSP00000225941.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-135               AC069454.22        100371-100505
            136-303             AC004797.1         104633-104800       c
            304-480             AC004797.1         103416-103592       c
            481-566             AC004797.1         101706-101791       c
            567-662             AC004797.1         101378-101473       c
            663-820             AC004797.1         101005-101162       c
            821-955             AC004797.1         99106-99240         c
            956-1629            AC004797.1         98106-98779         c
FEATURES             Location/Qualifiers
     source          1..1629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..1629
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /note="ABI family member 3"
                     /db_xref="GeneID:51225"
                     /db_xref="HGNC:HGNC:29859"
                     /db_xref="MIM:606363"
     exon            1..135
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..1119
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /note="isoform 1 is encoded by transcript variant 1; new
                     molecule including SH3; ABI gene family member 3"
                     /codon_start=1
                     /product="ABI gene family member 3 isoform 1"
                     /protein_id="NP_057512.2"
                     /db_xref="CCDS:CCDS11546.1"
                     /db_xref="GeneID:51225"
                     /db_xref="HGNC:HGNC:29859"
                     /db_xref="MIM:606363"
                     /translation="MAELQQLQEFEIPTGREALRGNHSALLRVADYCEDNYVQATDKR
                     KALEETMAFTTQALASVAYQVGNLAGHTLRMLDLQGAALRQVEARVSTLGQMVNMHME
                     KVARREIGTLATVQRLPPGQKVIAPENLPPLTPYCRRPLNFGCLDDIGHGIKDLSTQL
                     SRTGTLSRKSIKAPATPASATLGRPPRIPEPVHLPVVPDGRLSAASSAFSLASAGSAE
                     GVGGAPTPKGQAAPPAPPLPSSLDPPPPPAAVEVFQRPPTLEELSPPPPDEELPLPLD
                     LPPPPPLDGDELGLPPPPPGFGPDEPSWVPASYLEKVVTLYPYTSQKDNELSFSEGTV
                     ICVTRRYSDGWCEGVSSEGTGFFPGNYVEPSC"
     exon            136..303
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            304..480
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            481..566
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            567..662
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            663..820
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            821..955
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1629
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1464
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
     polyA_site      1629
                     /gene="ABI3"
                     /gene_synonym="NESH; SSH3BP3"
                     /note="major polyA site"
ORIGIN      
        1 agacagaggc tgggggtgat ggcggagcta cagcagctgc aggagtttga gatccccact
       61 ggccgggagg ctctgagggg caaccacagt gccctgctgc gggtcgctga ctactgcgag
      121 gacaactatg tgcaggccac agacaagcgg aaggcgctgg aggagaccat ggccttcact
      181 acccaggcac tggccagcgt ggcctaccag gtgggcaacc tggccgggca cactctgcgc
      241 atgttggacc tgcagggggc cgccctgcgg caggtggaag cccgtgtaag cacgctgggc
      301 cagatggtga acatgcatat ggagaaggtg gcccgaaggg agatcggcac cttagccact
      361 gtccagcggc tgccccccgg ccagaaggtc atcgccccag agaacctacc ccctctcacg
      421 ccctactgca ggagacccct caactttggc tgcctggacg acattggcca tgggatcaag
      481 gacctcagca cgcagctgtc aagaacaggc accctgtctc gaaagagcat caaggcccct
      541 gccacacccg cctccgccac cttggggaga ccaccccgga ttcccgagcc agtgcacctg
      601 ccggtggtgc ccgacggcag actctccgcc gcctcctctg cgttttccct ggcctcggcc
      661 ggcagcgccg aaggtgtcgg tggggccccc acgcccaagg ggcaggcagc acctccagcc
      721 ccacctctcc ccagctcctt ggacccacct cctccaccag cagccgtcga ggtgttccag
      781 cggcctccca cgctggagga gttgtcccca cccccaccgg acgaagagct gcccctgcca
      841 ctggacctgc ctcctcctcc acccctggat ggagatgaat tggggctgcc tccaccccca
      901 ccaggatttg ggcctgatga gcccagctgg gtgcctgcct catacttgga gaaagtggtg
      961 acactgtacc catacaccag ccagaaggac aatgagctct ccttctctga gggcactgtc
     1021 atctgtgtca ctcgccgcta ctccgatggc tggtgcgagg gcgtcagctc agaggggact
     1081 ggattcttcc ctgggaacta tgtggagccc agctgctgac agcccagggc tctctgggca
     1141 gctgatgtct gcactgagtg ggtttcatga gccccaagcc aaaaccagct ccagtcacag
     1201 ctggactggg tctgcccacc tcttgggctg tgagctgtgt tctgtccttc ctcccatcgg
     1261 agggagaagg ggtcctgggg agagagaatt tatccagagg cctgctgcag atggggaaga
     1321 gctggaaacc aagaagtttg tcaacagagg acccctactc catgcaggac agggtctcct
     1381 gctgcaagtc ccaactttga ataaaacaga tgatgtcctg tgactgcccc acagagataa
     1441 ggggccagga gggattgaaa ggcatcccag ttctaaggct gctgctaatt acagccccca
     1501 acctccaacc caccagctga cctagaagca gcatcttccc atttcctcag tacccacaaa
     1561 gtgcagccca cattggaccc cagacacccc tctgcagcca ttgactgcaa cttgttcttt
     1621 tgcccattg
//
