LOCUS       NM_001352203            3287 bp    mRNA    linear   PRI 24-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 1B (ANKS1B), transcript variant 31, mRNA.
ACCESSION   NM_001352203
VERSION     NM_001352203.2
KEYWORDS    RefSeq.
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 3287)
  AUTHORS   Wang,X., Wang,Y., Cai,Q. and Zhang,M.
  TITLE     AIDA-1/ANKS1B Binds to the SynGAP Family RasGAPs with High Affinity
            and Specificity
  JOURNAL   J Mol Biol 436 (12), 168608 (2024)
   PUBMED   38759928
  REMARK    GeneRIF: AIDA-1/ANKS1B Binds to the SynGAP Family RasGAPs with High
            Affinity and Specificity.
REFERENCE   2  (bases 1 to 3287)
  AUTHORS   Kislova,A.V., Zheglo,D., Pozhitnova,V.O., Sviridov,P.S.,
            Gadzhieva,E.P. and Voronina,E.S.
  TITLE     Replication stress causes delayed mitotic entry and chromosome 12
            fragility at the ANKS1B large neuronal gene in human induced
            pluripotent stem cells
  JOURNAL   Chromosome Res 31 (3), 23 (2023)
   PUBMED   37597021
  REMARK    GeneRIF: Replication stress causes delayed mitotic entry and
            chromosome 12 fragility at the ANKS1B large neuronal gene in human
            induced pluripotent stem cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3287)
  AUTHORS   Yan,J. and Xu,H.
  TITLE     Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma
  JOURNAL   Bioengineered 12 (2), 12420-12430 (2021)
   PUBMED   34781814
  REMARK    GeneRIF: Regulation of transforming growth factor-beta1 by
            circANKS1B/miR-515-5p affects the metastatic potential and
            cisplatin resistance in oral squamous cell carcinoma.
REFERENCE   4  (bases 1 to 3287)
  AUTHORS   Tao,L.J., Pan,X.Y., Wang,J.W., Zhang,L., Tao,L.S. and Liang,C.Z.
  TITLE     Circular RNA circANKS1B acts as a sponge for miR-152-3p and
            promotes prostate cancer progression by upregulating TGF-alpha
            expression
  JOURNAL   Prostate 81 (5), 271-278 (2021)
   PUBMED   33556191
  REMARK    GeneRIF: Circular RNA circANKS1B acts as a sponge for miR-152-3p
            and promotes prostate cancer progression by upregulating TGF-alpha
            expression.
REFERENCE   5  (bases 1 to 3287)
  AUTHORS   Ghersi,E., Noviello,C. and D'Adamio,L.
  TITLE     Amyloid-beta protein precursor (AbetaPP) intracellular
            domain-associated protein-1 proteins bind to AbetaPP and modulate
            its processing in an isoform-specific manner
  JOURNAL   J Biol Chem 279 (47), 49105-49112 (2004)
   PUBMED   15347684
  REMARK    GeneRIF: the interaction between AbetaPP and AIDA-1 is regulated by
            alternative splicing of the AIDA-1 protein
REFERENCE   6  (bases 1 to 3287)
  AUTHORS   Ghersi,E., Vito,P., Lopez,P., Abdallah,M. and D'Adamio,L.
  TITLE     The intracellular localization of amyloid beta protein precursor
            (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is
            regulated by AbetaPP and alternative splicing
  JOURNAL   J Alzheimers Dis 6 (1), 67-78 (2004)
   PUBMED   15004329
  REMARK    GeneRIF: AbetaPP and the AIDA-1 proteins interact in vitro, in
            living cells and, endogenously, in leukemia cell lines;AIDA-1
            proteins are expressed at high levels in the brain
REFERENCE   7  (bases 1 to 3287)
  AUTHORS   LeBrun,D.P.
  TITLE     E2A basic helix-loop-helix transcription factors in human leukemia
  JOURNAL   Front Biosci 8, s206-s222 (2003)
   PUBMED   12700034
  REMARK    GeneRIF: Evidence pertaining to leukemogenesis by the
            well-characterized E2A-fusion protein E2A-PBX1 is reviewed and its
            mechanistic implications are considered.
            Review article
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3287)
  AUTHORS   Petersen,H.H., Hilpert,J., Militz,D., Zandler,V., Jacobsen,C.,
            Roebroek,A.J. and Willnow,T.E.
  TITLE     Functional interaction of megalin with the megalinbinding protein
            (MegBP), a novel tetratrico peptide repeat-containing adaptor
            molecule
  JOURNAL   J Cell Sci 116 (Pt 3), 453-461 (2003)
   PUBMED   12508107
REFERENCE   9  (bases 1 to 3287)
  AUTHORS   Wiemels,J.L., Leonard,B.C., Wang,Y., Segal,M.R., Hunger,S.P.,
            Smith,M.T., Crouse,V., Ma,X., Buffler,P.A. and Pine,S.R.
  TITLE     Site-specific translocation and evidence of postnatal origin of the
            t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 15101-15106 (2002)
   PUBMED   12415113
  REMARK    GeneRIF: site-specific translocation and evidence of postnatal
            origin of the t(1;19) fusion in childhood acute lymphoblastic
            leukemia
REFERENCE   10 (bases 1 to 3287)
  AUTHORS   Fu,X., McGrath,S., Pasillas,M., Nakazawa,S. and Kamps,M.P.
  TITLE     EB-1, a tyrosine kinase signal transduction gene, is
            transcriptionally activated in the t(1;19) subset of pre-B ALL,
            which express oncoprotein E2a-Pbx1
  JOURNAL   Oncogene 18 (35), 4920-4929 (1999)
   PUBMED   10490826
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079954.18, AC117377.9,
            AC008126.9 and AC011248.8.
            
            On Jun 2, 2019 this sequence version replaced NM_001352203.1.
            
            Summary: This gene encodes a multi-domain protein that is
            predominantly expressed in brain and testis. This protein interacts
            with amyloid beta protein precursor (AbetaPP) and may have a role
            in normal brain development, and in the pathogenesis of Alzheimer's
            disease. Expression of this gene has been shown to be elevated in
            patients with pre-B cell acute lymphocytic leukemia associated with
            t(1;19) translocation. Alternatively spliced transcript variants
            encoding different isoforms (some with different subcellular
            localization, PMID:15004329) have been described for this gene.
            [provided by RefSeq, Aug 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1803614.42458.1,
                                           SRR1803615.191710.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-478               AC079954.18        25459-25936         c
            479-577             AC117377.9         61218-61316         c
            578-730             AC117377.9         29450-29602         c
            731-805             AC008126.9         124330-124404
            806-934             AC008126.9         131123-131251
            935-1006            AC008126.9         133243-133314
            1007-1018           AC008126.9         150111-150122
            1019-1105           AC008126.9         151045-151131
            1106-1243           AC008126.9         159069-159206
            1244-1411           AC011248.8         7382-7549
            1412-3287           AC011248.8         13055-14930
FEATURES             Location/Qualifiers
     source          1..3287
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..3287
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="ankyrin repeat and sterile alpha motif domain
                     containing 1B"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
     exon            1..478
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1522
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="isoform bb is encoded by transcript variant 31;
                     E2a-Pbx1-associated protein; amyloid-beta precursor
                     protein intracellular domain associated protein 1; cajalin
                     2"
                     /codon_start=1
                     /product="ankyrin repeat and sterile alpha motif
                     domain-containing protein 1B isoform bb"
                     /protein_id="NP_001339132.1"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
                     /translation="MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTGPRCPVQTVGQW
                     LESIGLPQYENHLMANGFDNVQFMGSNVMEDQDLLEIGILNSGHRQRILQAIQLLPKM
                     RPIGHDGYHPTSVAEWLDSIELGDYTKAFLINGYTSMDLLKKIWEVELINQSSVCEIW
                     TNQNAGFPFSAIHQVHNTGDWGEPSITLRPPNEATASTPVQYWQHHPEKLIFQSCDYK
                     AFYLGSMLIKELRGTESTQDACAKMRANCQKSTEQMKKVPTIILSVSYKGVKFIDATN
                     KNIIAEHEIRNISCAAQDPEDLSTFAYITKDLKSNHHYCHVFTAFDVNLAYEIILTLG
                     QAFEVAYQLALQARKGGHSSTLPESFENKPSKPIPKPRVSIRKSVQIDPSEQKTLANL
                     PWIVEPGQEAKRGINTKYETTIF"
     exon            479..577
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            578..730
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            731..805
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            806..934
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1006
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1018
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1105
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1243
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1411
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..3287
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3026..3031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: ATTAAA"
     polyA_site      3045
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
     regulatory      3265..3270
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: AATAAA"
     polyA_site      3287
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="major polyA site"
ORIGIN      
        1 gcattgctca ttgtggagta ctccaacaat cacatagaac gcagaccagc ccaagctgac
       61 agcttgatat gccttcttct gctgcctggt tttgggggct gtatgacgta ctggtcggta
      121 gtaaagatta atatgtaaga aatgtggagc taggatcaag tcatactcca cagcctgcct
      181 ggcaaactat gttttacttc tgactttgct ctctcgctga gaacattaat ctgtcaagct
      241 ggcgggctcc tttgatagca actttcccag gggcatgatg tggcaatgcc acctctcagc
      301 ccaggactac cgctattacc ccgtggacgg ctactccctg cttaaacgct tccctcttca
      361 tcctcttaca ggacccagat gccctgtcca aacagtggga caatggttgg aaagcattgg
      421 gctacctcag tacgagaacc acctgatggc taatggattt gacaatgtgc agtttatggg
      481 aagcaatgtt atggaagatc aggatttgtt ggaaattgga atccttaatt ctgggcacag
      541 acaaagaatt ctacaggcaa tccagctcct tccaaagatg agacccattg ggcatgatgg
      601 ctaccatccc acctctgtag ctgagtggct ggattccatt gaactgggcg actacaccaa
      661 agcctttcta attaatggct acacttcgat ggacctgttg aaaaaaatct gggaggttga
      721 acttattaat cagtcgtctg tctgtgaaat atggacgaat cagaacgcag gatttccttt
      781 ctcagcgatc catcaggttc ataatacagg agactgggga gaaccttcca ttaccttgcg
      841 acctccgaat gaagccacag cctctacccc ggtacagtac tggcagcatc acccagaaaa
      901 gcttatcttc cagtcgtgtg attacaaagc tttttattta ggttctatgc tgataaaaga
      961 gcttaggggg acagaatcaa cccaagatgc ttgtgcaaaa atgcgggcta actgtcagaa
     1021 gtctacagag caaatgaaga aggtccctac tattattctt tctgtctcat ataaaggagt
     1081 caaatttatt gatgcaacaa ataagaacat aattgctgag catgaaattc gtaatatctc
     1141 ctgtgctgcc caggacccag aagacctctc aacatttgcc tatatcacaa aagatttgaa
     1201 gtctaatcac cactactgtc atgtgtttac tgcctttgat gtgaatttag cctatgaaat
     1261 catcctaacc ctgggacagg cattcgaagt cgcttaccag ctagcactac aagcaagaaa
     1321 agggggacac tcctccacac ttccagaaag ctttgaaaac aaaccctcca aacccatccc
     1381 caagccccgc gttagcattc gcaagtccgt gcagatcgac ccatctgagc aaaagactct
     1441 ggccaatcta ccgtggattg tggagccggg ccaagaagcc aagaggggca ttaataccaa
     1501 gtatgaaacc acgattttct gatactcgcc gtcctcctgt cctcgcggtg ccttgctcgc
     1561 caagcggtcc cggagcaggc tttccttcgc gcctccgcgt ccacccagcc caggaggaag
     1621 actgctctga gcgtgcggcc ttgttacggg cgaaaggcca ctggccattc ctggggaagt
     1681 tctttctgca ccagtgatgg aaaacgcaag actttccagt cgcaacccct gagaggcgtg
     1741 agttgagatg ggttttccct gatgctcccg actcccctcc ccaccacctc ccaaggtatt
     1801 tctgatgact ccgccccagt acttgctttg cttcatttgg ggaaaataat accttttctt
     1861 taaaaaaaaa aaaaaaaaaa aaaaagtaaa ggggatctct aatactgcct aaaagtatgc
     1921 tttcactgtc agcagtttta aaggtgaaat cagagcagca ctacccctcc cacctccaaa
     1981 gcatctgtaa aatcattcta tcattgagta tcgtttaatg caaaaggaca aaaacaactc
     2041 ccgtgatatg attgccagga gattctgttt ccccatttct atatttgtgg attttatatg
     2101 taatcaccta tgtcagagaa agaaaacctt tcaaccaaat gattggttca aaaggaaaga
     2161 atgattcaaa gcagaggaat ttattatgca cagcaaaatg tgtcttgtat taaatatttt
     2221 tattaaaaga atgtttcatt aatgcattga taagaaaact aggttagttg cgagggatgt
     2281 ttctggtttc atttcaaata attaaatttc tactgctact accaagagga ctggctcagt
     2341 ggtggcaaaa tactggtgat gctccctaga gcaggaggcc cggaagtgct gacgcagcca
     2401 tcagcctgcc aagattgttt tttaatcttc acagtgtttt aaagaacatg ttaaaaaaaa
     2461 aaaaatctag tgctcctgct gtcaagattt ctgtcatgga aaccttgttt gagaaaggtg
     2521 ttaataaaat tctattgcaa aaatttcttt ttctagaaaa aataaataca aaaaaaaaaa
     2581 agaagaaatt ccaaagtaat aaaacttttc ttgagacaaa caaaaaaaaa gtttgcttac
     2641 tatttgatta aataaaattt acttacattt ctttaaggta ttttaatttt ttaatgtctc
     2701 tgtggagtat ttgtatgata ccataatgta tatttatgta gaatcaaatt atataaacag
     2761 taccaatatc attatagaaa aaaataacat tttaatgtat attgttctaa caatcatatt
     2821 gtgaatcatt ttgaagttca ttatagcgat attgataaat tgtggaattg tcttaatgtt
     2881 tttttattaa ctgacattat tttaaaccta actgagatga tcagttacat tcatcagttg
     2941 gtgagttttg aagaataact acattttatt tcaaactaac aaatgtatac ggttttagtt
     3001 cagtgttgaa gaattttaat acaatattaa attacttgaa ctgaacagtt ccttgtatat
     3061 attttgccta ttcactgttg atatgtatgt agcaaaatga gagttaaata acactaaaat
     3121 atggtaccag gaggcaattg tataggagca aagttaatag gagctttgct gaaacagaag
     3181 catatgtgta aataagcttg ggcttccagt tataaatttt gtaatttttg tcattattta
     3241 tatcctataa aaaaagcaca caaaaataaa acagaagttg tacagca
//
