LOCUS       NM_001352212            2749 bp    mRNA    linear   PRI 24-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 1B (ANKS1B), transcript variant 45, mRNA.
ACCESSION   NM_001352212
VERSION     NM_001352212.2
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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 2749)
  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 AC008126.9 and AC011248.8.
            
            On Jun 2, 2019 this sequence version replaced NM_001352212.1.
            
            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].
            
            Transcript Variant: This variant (45), as well as variants 44, 46,
            47, and 48, encodes isoform ll.
            
            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##
            CDS exon combination :: AL567413.3, DA359929.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968189,
                                    SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               AC008126.9         36957-37115
            160-267             AC008126.9         100112-100219
            268-396             AC008126.9         131123-131251
            397-468             AC008126.9         133243-133314
            469-480             AC008126.9         150111-150122
            481-567             AC008126.9         151045-151131
            568-705             AC008126.9         159069-159206
            706-873             AC011248.8         7382-7549
            874-2749            AC011248.8         13055-14930
FEATURES             Location/Qualifiers
     source          1..2749
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..2749
                     /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..159
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            160..267
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            268..396
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            397..468
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             409..984
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="isoform ll is encoded by transcript variant 45;
                     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 ll"
                     /protein_id="NP_001339141.1"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
                     /translation="MLIKELRGTESTQDACAKMRANCQKSTEQMKKVPTIILSVSYKG
                     VKFIDATNKNIIAEHEIRNISCAAQDPEDLSTFAYITKDLKSNHHYCHVFTAFDVNLA
                     YEIILTLGQAFEVAYQLALQARKGGHSSTLPESFENKPSKPIPKPRVSIRKSVQIDPS
                     EQKTLANLPWIVEPGQEAKRGINTKYETTIF"
     exon            469..480
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            481..567
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            568..705
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            706..873
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            874..2749
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2488..2493
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: ATTAAA"
     polyA_site      2507
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
     regulatory      2727..2732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: AATAAA"
     polyA_site      2749
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="major polyA site"
ORIGIN      
        1 atagtaaccg aggatgcgag gggcgcccag cagcagcgag tgcctgggag ccaggaggag
       61 gcccccgcgc gccggcaacc cccagtgcta ggcgccctgc agcccccgcg cgccgcgcct
      121 gggcccgcat cgctctcgca gtgagggtcc gcccgagcgg ttttaaaaat caatttgatt
      181 ggccacagga aacgtatttt ggcatctctg ggagacaggc tgcacgacga tcccccacag
      241 aagccccctc ggtccatcac cctcaggaca ggagactggg gagaaccttc cattaccttg
      301 cgacctccga atgaagccac agcctctacc ccggtacagt actggcagca tcacccagaa
      361 aagcttatct tccagtcgtg tgattacaaa gctttttatt taggttctat gctgataaaa
      421 gagcttaggg ggacagaatc aacccaagat gcttgtgcaa aaatgcgggc taactgtcag
      481 aagtctacag agcaaatgaa gaaggtccct actattattc tttctgtctc atataaagga
      541 gtcaaattta ttgatgcaac aaataagaac ataattgctg agcatgaaat tcgtaatatc
      601 tcctgtgctg cccaggaccc agaagacctc tcaacatttg cctatatcac aaaagatttg
      661 aagtctaatc accactactg tcatgtgttt actgcctttg atgtgaattt agcctatgaa
      721 atcatcctaa ccctgggaca ggcattcgaa gtcgcttacc agctagcact acaagcaaga
      781 aaagggggac actcctccac acttccagaa agctttgaaa acaaaccctc caaacccatc
      841 cccaagcccc gcgttagcat tcgcaagtcc gtgcagatcg acccatctga gcaaaagact
      901 ctggccaatc taccgtggat tgtggagccg ggccaagaag ccaagagggg cattaatacc
      961 aagtatgaaa ccacgatttt ctgatactcg ccgtcctcct gtcctcgcgg tgccttgctc
     1021 gccaagcggt cccggagcag gctttccttc gcgcctccgc gtccacccag cccaggagga
     1081 agactgctct gagcgtgcgg ccttgttacg ggcgaaaggc cactggccat tcctggggaa
     1141 gttctttctg caccagtgat ggaaaacgca agactttcca gtcgcaaccc ctgagaggcg
     1201 tgagttgaga tgggttttcc ctgatgctcc cgactcccct ccccaccacc tcccaaggta
     1261 tttctgatga ctccgcccca gtacttgctt tgcttcattt ggggaaaata ataccttttc
     1321 tttaaaaaaa aaaaaaaaaa aaaaaaagta aaggggatct ctaatactgc ctaaaagtat
     1381 gctttcactg tcagcagttt taaaggtgaa atcagagcag cactacccct cccacctcca
     1441 aagcatctgt aaaatcattc tatcattgag tatcgtttaa tgcaaaagga caaaaacaac
     1501 tcccgtgata tgattgccag gagattctgt ttccccattt ctatatttgt ggattttata
     1561 tgtaatcacc tatgtcagag aaagaaaacc tttcaaccaa atgattggtt caaaaggaaa
     1621 gaatgattca aagcagagga atttattatg cacagcaaaa tgtgtcttgt attaaatatt
     1681 tttattaaaa gaatgtttca ttaatgcatt gataagaaaa ctaggttagt tgcgagggat
     1741 gtttctggtt tcatttcaaa taattaaatt tctactgcta ctaccaagag gactggctca
     1801 gtggtggcaa aatactggtg atgctcccta gagcaggagg cccggaagtg ctgacgcagc
     1861 catcagcctg ccaagattgt tttttaatct tcacagtgtt ttaaagaaca tgttaaaaaa
     1921 aaaaaaatct agtgctcctg ctgtcaagat ttctgtcatg gaaaccttgt ttgagaaagg
     1981 tgttaataaa attctattgc aaaaatttct ttttctagaa aaaataaata caaaaaaaaa
     2041 aaagaagaaa ttccaaagta ataaaacttt tcttgagaca aacaaaaaaa aagtttgctt
     2101 actatttgat taaataaaat ttacttacat ttctttaagg tattttaatt ttttaatgtc
     2161 tctgtggagt atttgtatga taccataatg tatatttatg tagaatcaaa ttatataaac
     2221 agtaccaata tcattataga aaaaaataac attttaatgt atattgttct aacaatcata
     2281 ttgtgaatca ttttgaagtt cattatagcg atattgataa attgtggaat tgtcttaatg
     2341 tttttttatt aactgacatt attttaaacc taactgagat gatcagttac attcatcagt
     2401 tggtgagttt tgaagaataa ctacatttta tttcaaacta acaaatgtat acggttttag
     2461 ttcagtgttg aagaatttta atacaatatt aaattacttg aactgaacag ttccttgtat
     2521 atattttgcc tattcactgt tgatatgtat gtagcaaaat gagagttaaa taacactaaa
     2581 atatggtacc aggaggcaat tgtataggag caaagttaat aggagctttg ctgaaacaga
     2641 agcatatgtg taaataagct tgggcttcca gttataaatt ttgtaatttt tgtcattatt
     2701 tatatcctat aaaaaaagca cacaaaaata aaacagaagt tgtacagca
//
