LOCUS       NM_001352221            2912 bp    mRNA    linear   PRI 24-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 1B (ANKS1B), transcript variant 41, mRNA.
ACCESSION   NM_001352221
VERSION     NM_001352221.2
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 2912)
  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 2912)
  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 2912)
  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 2912)
  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 2912)
  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 2912)
  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 2912)
  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 2912)
  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 2912)
  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 2912)
  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_001352221.1.
            
            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 (41), as well as variant 40,
            encodes isoform ii.
            
            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 :: EB387324.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1966682,
                                    SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC008126.9         37474-37618
            146-253             AC008126.9         100112-100219
            254-433             AC008126.9         102895-103074
            434-562             AC008126.9         131123-131251
            563-634             AC008126.9         133243-133314
            635-646             AC008126.9         150111-150122
            647-733             AC008126.9         151045-151131
            734-871             AC008126.9         159069-159206
            872-1039            AC011248.8         7382-7549
            1040-2912           AC011248.8         13058-14930
FEATURES             Location/Qualifiers
     source          1..2912
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..2912
                     /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..145
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            146..253
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            254..433
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             350..1147
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="isoform ii is encoded by transcript variant 41;
                     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 ii"
                     /protein_id="NP_001339150.1"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
                     /translation="MQGDARRRRNENYFDDIPRSKLERQMAQTGDWGEPSITLRPPNE
                     ATASTPVQYWQHHPEKLIFQSCDYKAFYLGSMLIKELRGTESTQDACAKMRANCQKST
                     EQMKKVPTIILSVSYKGVKFIDATNKNIIAEHEIRNISCAAQDPEDLSTFAYITKDLK
                     SNHHYCHVFTAFDVNLAYEIILTLGQAFEVAYQLALQARKGGHSSTLPESFENKPSKP
                     IPKPRVSIRKSVIDPSEQKTLANLPWIVEPGQEAKRGINTKYETTIF"
     exon            434..562
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            563..634
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            635..646
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            647..733
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            734..871
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1039
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..2912
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2651..2656
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: ATTAAA"
     polyA_site      2670
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
     regulatory      2890..2895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: AATAAA"
     polyA_site      2912
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="major polyA site"
ORIGIN      
        1 gctcgcattc gctgggggcg cccagaaaga tgcacagagg caacggctag gggagcggag
       61 gttcaagcca catgtctgcg tcctcggggg ccagagcccg ccagccctcg cggatcccgg
      121 ctcgcggcca gcccgagcgg ctcgggtttt aaaaatcaat ttgattggcc acaggaaacg
      181 tattttggca tctctgggag acaggctgca cgacgatccc ccacagaagc cccctcggtc
      241 catcaccctc agggaaccca gtggtaatca cactcctcct cagttgtctc catcacttag
      301 ccaaagcact tacaccactg gtggctccct agacgttcct cacattatca tgcagggcga
      361 tgcaaggagg agaagaaatg aaaactactt tgatgatatt ccccgatcaa aactggagag
      421 gcagatggct cagacaggag actggggaga accttccatt accttgcgac ctccgaatga
      481 agccacagcc tctaccccgg tacagtactg gcagcatcac ccagaaaagc ttatcttcca
      541 gtcgtgtgat tacaaagctt tttatttagg ttctatgctg ataaaagagc ttagggggac
      601 agaatcaacc caagatgctt gtgcaaaaat gcgggctaac tgtcagaagt ctacagagca
      661 aatgaagaag gtccctacta ttattctttc tgtctcatat aaaggagtca aatttattga
      721 tgcaacaaat aagaacataa ttgctgagca tgaaattcgt aatatctcct gtgctgccca
      781 ggacccagaa gacctctcaa catttgccta tatcacaaaa gatttgaagt ctaatcacca
      841 ctactgtcat gtgtttactg cctttgatgt gaatttagcc tatgaaatca tcctaaccct
      901 gggacaggca ttcgaagtcg cttaccagct agcactacaa gcaagaaaag ggggacactc
      961 ctccacactt ccagaaagct ttgaaaacaa accctccaaa cccatcccca agccccgcgt
     1021 tagcattcgc aagtccgtga tcgacccatc tgagcaaaag actctggcca atctaccgtg
     1081 gattgtggag ccgggccaag aagccaagag gggcattaat accaagtatg aaaccacgat
     1141 tttctgatac tcgccgtcct cctgtcctcg cggtgccttg ctcgccaagc ggtcccggag
     1201 caggctttcc ttcgcgcctc cgcgtccacc cagcccagga ggaagactgc tctgagcgtg
     1261 cggccttgtt acgggcgaaa ggccactggc cattcctggg gaagttcttt ctgcaccagt
     1321 gatggaaaac gcaagacttt ccagtcgcaa cccctgagag gcgtgagttg agatgggttt
     1381 tccctgatgc tcccgactcc cctccccacc acctcccaag gtatttctga tgactccgcc
     1441 ccagtacttg ctttgcttca tttggggaaa ataatacctt ttctttaaaa aaaaaaaaaa
     1501 aaaaaaaaaa gtaaagggga tctctaatac tgcctaaaag tatgctttca ctgtcagcag
     1561 ttttaaaggt gaaatcagag cagcactacc cctcccacct ccaaagcatc tgtaaaatca
     1621 ttctatcatt gagtatcgtt taatgcaaaa ggacaaaaac aactcccgtg atatgattgc
     1681 caggagattc tgtttcccca tttctatatt tgtggatttt atatgtaatc acctatgtca
     1741 gagaaagaaa acctttcaac caaatgattg gttcaaaagg aaagaatgat tcaaagcaga
     1801 ggaatttatt atgcacagca aaatgtgtct tgtattaaat atttttatta aaagaatgtt
     1861 tcattaatgc attgataaga aaactaggtt agttgcgagg gatgtttctg gtttcatttc
     1921 aaataattaa atttctactg ctactaccaa gaggactggc tcagtggtgg caaaatactg
     1981 gtgatgctcc ctagagcagg aggcccggaa gtgctgacgc agccatcagc ctgccaagat
     2041 tgttttttaa tcttcacagt gttttaaaga acatgttaaa aaaaaaaaaa tctagtgctc
     2101 ctgctgtcaa gatttctgtc atggaaacct tgtttgagaa aggtgttaat aaaattctat
     2161 tgcaaaaatt tctttttcta gaaaaaataa atacaaaaaa aaaaaagaag aaattccaaa
     2221 gtaataaaac ttttcttgag acaaacaaaa aaaaagtttg cttactattt gattaaataa
     2281 aatttactta catttcttta aggtatttta attttttaat gtctctgtgg agtatttgta
     2341 tgataccata atgtatattt atgtagaatc aaattatata aacagtacca atatcattat
     2401 agaaaaaaat aacattttaa tgtatattgt tctaacaatc atattgtgaa tcattttgaa
     2461 gttcattata gcgatattga taaattgtgg aattgtctta atgttttttt attaactgac
     2521 attattttaa acctaactga gatgatcagt tacattcatc agttggtgag ttttgaagaa
     2581 taactacatt ttatttcaaa ctaacaaatg tatacggttt tagttcagtg ttgaagaatt
     2641 ttaatacaat attaaattac ttgaactgaa cagttccttg tatatatttt gcctattcac
     2701 tgttgatatg tatgtagcaa aatgagagtt aaataacact aaaatatggt accaggaggc
     2761 aattgtatag gagcaaagtt aataggagct ttgctgaaac agaagcatat gtgtaaataa
     2821 gcttgggctt ccagttataa attttgtaat ttttgtcatt atttatatcc tataaaaaaa
     2881 gcacacaaaa ataaaacaga agttgtacag ca
//
