LOCUS       NM_001352223            1963 bp    mRNA    linear   PRI 24-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 1B (ANKS1B), transcript variant 38, mRNA.
ACCESSION   NM_001352223
VERSION     NM_001352223.2
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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 1963)
  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 Aug 14, 2020 this sequence version replaced NM_001352223.1.
            
            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##
            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
            1-145               AC008126.9         37474-37618
            146-253             AC008126.9         100112-100219
            254-433             AC008126.9         102895-103074
            434-508             AC008126.9         124330-124404
            509-637             AC008126.9         131123-131251
            638-709             AC008126.9         133243-133314
            710-721             AC008126.9         150111-150122
            722-808             AC008126.9         151045-151131
            809-946             AC008126.9         159069-159206
            947-1114            AC011248.8         7382-7549
            1115-1963           AC011248.8         23270-24118
FEATURES             Location/Qualifiers
     source          1..1963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..1963
                     /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..1189
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="isoform hh is encoded by transcript variant 38;
                     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 hh"
                     /protein_id="NP_001339152.1"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
                     /translation="MQGDARRRRNENYFDDIPRSKLERQMAQQSSVCEIWTNQNAGFP
                     FSAIHQVHNTGDWGEPSITLRPPNEATASTPVQYWQHHPEKLIFQSCDYKAFYLGSML
                     IKELRGTESTQDACAKMRANCQKSTEQMKKVPTIILSVSYKGVKFIDATNKNIIAEHE
                     IRNISCAAQDPEDLSTFAYITKDLKSNHHYCHVFTAFDVNLAYEIILTLGQAFEVAYQ
                     LALQARKGGHSSTLPESFENKPSKPIPKPRVSIRKSVDLLHASHTGQEPSERHTEEAL
                     RKF"
     exon            434..508
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            509..637
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            638..709
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            710..721
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..808
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            809..946
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1114
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1963
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1280..1285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: GATAAA"
     polyA_site      1296
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="major polyA site"
     regulatory      1298..1303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: AATGAA"
     polyA_site      1330
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="major polyA site"
     regulatory      1932..1937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: AATAAA"
     polyA_site      1963
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
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 cagcagtcgt ctgtctgtga aatatggacg aatcagaacg caggatttcc
      481 tttctcagcg atccatcagg ttcataatac aggagactgg ggagaacctt ccattacctt
      541 gcgacctccg aatgaagcca cagcctctac cccggtacag tactggcagc atcacccaga
      601 aaagcttatc ttccagtcgt gtgattacaa agctttttat ttaggttcta tgctgataaa
      661 agagcttagg gggacagaat caacccaaga tgcttgtgca aaaatgcggg ctaactgtca
      721 gaagtctaca gagcaaatga agaaggtccc tactattatt ctttctgtct catataaagg
      781 agtcaaattt attgatgcaa caaataagaa cataattgct gagcatgaaa ttcgtaatat
      841 ctcctgtgct gcccaggacc cagaagacct ctcaacattt gcctatatca caaaagattt
      901 gaagtctaat caccactact gtcatgtgtt tactgccttt gatgtgaatt tagcctatga
      961 aatcatccta accctgggac aggcattcga agtcgcttac cagctagcac tacaagcaag
     1021 aaaaggggga cactcctcca cacttccaga aagctttgaa aacaaaccct ccaaacccat
     1081 ccccaagccc cgcgttagca ttcgcaagtc cgtggatctt cttcatgcca gccataccgg
     1141 gcaggaacca tcagagagac acactgagga ggcactcaga aaattttgat agaattgaat
     1201 ttacatatag ctgataaagc ctaaatagaa aggttgatgt atttagcttg aatccttcac
     1261 tttagtggtc taatcaacag ataaatgaca agcaaagaat gaaacaatcc aaaaatgttt
     1321 ttcaaaacaa ttttgtgaat tttattttta caaaaatttt ttaaattcat attttaaaat
     1381 gtataccaag gcaaaaaaat catataagct atatcataaa tacaagagtt tcaaaacata
     1441 caagagacat ataatgtaaa aaaaaattat atatatgaag tccaatgtaa tttataatac
     1501 aaaaaaatac agcaagggaa aatgctttag aaatgctcat ctgcaaacta caaaacaaaa
     1561 tcctcctctt gaccgactgc atgaactgcc atgaaatttg cagctccatc atactaggta
     1621 tctcttcttt cttcatgtta ccttgtcttt cttcccattt ttcttttaag acagggtctt
     1681 gctatgtcac ccaggctgga ctcaaactcc agggctcaag gaatcctcct gtcttagcct
     1741 cccaaggagc tgggattaca ggcacgtgcc accgcacctg gctcctaatt tctttttaag
     1801 acaagggcca ttcaaggctt tttaaaacct gatgtgtgtt gttatacttt ataacagtca
     1861 gtggctttta attccaaaag gtaatacttt atactctgcc tacatgagat gagcccctaa
     1921 cagtgtgtac aaataaaatt atgatttggg tattctaagg aga
//
