LOCUS       NM_001204068            3516 bp    mRNA    linear   PRI 24-JUN-2024
DEFINITION  Homo sapiens ankyrin repeat and sterile alpha motif domain
            containing 1B (ANKS1B), transcript variant 7, mRNA.
ACCESSION   NM_001204068
VERSION     NM_001204068.2
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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 3516)
  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 DA690060.1, BC142669.1,
            AY281132.1, BC026313.1 and BC150204.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001204068.1.
            
            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 (7) differs in the 5' UTR and
            coding region and in the 3' UTR and coding region compared to
            variant 1. The resulting isoform (g, also known as AIDA-1a) has a
            shorter and distinct N-terminus and a shorter and distinct
            C-terminus compared to isoform a.
            
            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 :: AY281132.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DA690060.1         34-53
            21-274              BC142669.1         1-254
            275-1657            AY281132.1         1-1383
            1658-2009           BC026313.1         1642-1993
            2010-3516           BC150204.1         1866-3372
FEATURES             Location/Qualifiers
     source          1..3516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..3516
                     /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..1657
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="isoform g is encoded by transcript variant 7;
                     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 g"
                     /protein_id="NP_001190997.1"
                     /db_xref="CCDS:CCDS55869.1"
                     /db_xref="GeneID:56899"
                     /db_xref="HGNC:HGNC:24600"
                     /db_xref="MIM:607815"
                     /translation="MMWQCHLSAQDYRYYPVDGYSLLKRFPLHPLTGPRCPVQTVGQW
                     LESIGLPQYENHLMANGFDNVQFMGSNVMEDQDLLEIGILNSGHRQRILQAIQLLPKM
                     RPIGHDGYHPTSVAEWLDSIELGDYTKAFLINGYTSMDLLKKIWEVELINVLKINLIG
                     HRKRILASLGDRLHDDPPQKPPRSITLREPSGNHTPPQLSPSLSQSTYTTGGSLDVPH
                     IIMQGDARRRRNENYFDDIPRSKLERQMAQTGDWGEPSITLRPPNEATASTPVQYWQH
                     HPEKLIFQSCDYKAFYLGSMLIKELRGTESTQDACAKMRANCQKSTEQMKKVPTIILS
                     VSYKGVKFIDATNKNIIAEHEIRNISCAAQDPEDLSTFAYITKDLKSNHHYCHVFTAF
                     DVNLAYEIILTLGQAFEVAYQLALQARKGGHSSTLPESFENKPSKPIPKPRVSIRKSV
                     PFCFKADRPI"
     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..838
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            839..1018
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1147
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1219
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1231
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1318
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1456
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1624
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..3516
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3255..3260
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: ATTAAA"
     polyA_site      3274
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
     regulatory      3494..3499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKS1B"
                     /gene_synonym="AIDA; AIDA-1; ANKS2; cajalin-2; EB-1; EB1"
                     /note="hexamer: AATAAA"
     polyA_site      3516
                     /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 gttttaaaaa tcaatttgat tggccacagg aaacgtattt tggcatctct
      781 gggagacagg ctgcacgacg atcccccaca gaagccccct cggtccatca ccctcaggga
      841 acccagtggt aatcacactc ctcctcagtt gtctccatca cttagccaaa gcacttacac
      901 cactggtggc tccctagacg ttcctcacat tatcatgcag ggcgatgcaa ggaggagaag
      961 aaatgaaaac tactttgatg atattccccg atcaaaactg gagaggcaga tggctcagac
     1021 aggagactgg ggagaacctt ccattacctt gcgacctccg aatgaagcca cagcctctac
     1081 cccggtacag tactggcagc atcacccaga aaagcttatc ttccagtcgt gtgattacaa
     1141 agctttttat ttaggttcta tgctgataaa agagcttagg gggacagaat caacccaaga
     1201 tgcttgtgca aaaatgcggg ctaactgtca gaagtctaca gagcaaatga agaaggtccc
     1261 tactattatt ctttctgtct catataaagg agtcaaattt attgatgcaa caaataagaa
     1321 cataattgct gagcatgaaa ttcgtaatat ctcctgtgct gcccaggacc cagaagacct
     1381 ctcaacattt gcctatatca caaaagattt gaagtctaat caccactact gtcatgtgtt
     1441 tactgccttt gatgtgaatt tagcctatga aatcatccta accctgggac aggcattcga
     1501 agtcgcttac cagctagcac tacaagcaag aaaaggggga cactcctcca cacttccaga
     1561 aagctttgaa aacaaaccct ccaaacccat ccccaagccc cgcgttagca ttcgcaagtc
     1621 cgtgcctttc tgttttaaag cagatcgacc catctgagca aaagactctg gccaatctac
     1681 cgtggattgt ggagccgggc caagaagcca agaggggcat taataccaag tatgaaacca
     1741 cgattttctg atactcgccg tcctcctgtc ctcgcggtgc cttgctcgcc aagcggtccc
     1801 ggagcaggct ttccttcgcg cctccgcgtc cacccagccc aggaggaaga ctgctctgag
     1861 cgtgcggcct tgttacgggc gaaaggccac tggccattcc tggggaagtt ctttctgcac
     1921 cagtgatgga aaacgcaaga ctttccagtc gcaacccctg agaggcgtga gttgagatgg
     1981 gttttccctg atgctcccga ctcccctccc caccacctcc caaggtattt ctgatgactc
     2041 cgccccagta cttgctttgc ttcatttggg gaaaataata ccttttcttt aaaaaaaaaa
     2101 aaaaaaaaaa aaaagtaaag gggatctcta atactgccta aaagtatgct ttcactgtca
     2161 gcagttttaa aggtgaaatc agagcagcac tacccctccc acctccaaag catctgtaaa
     2221 atcattctat cattgagtat cgtttaatgc aaaaggacaa aaacaactcc cgtgatatga
     2281 ttgccaggag attctgtttc cccatttcta tatttgtgga ttttatatgt aatcacctat
     2341 gtcagagaaa gaaaaccttt caaccaaatg attggttcaa aaggaaagaa tgattcaaag
     2401 cagaggaatt tattatgcac agcaaaatgt gtcttgtatt aaatattttt attaaaagaa
     2461 tgtttcatta atgcattgat aagaaaacta ggttagttgc gagggatgtt tctggtttca
     2521 tttcaaataa ttaaatttct actgctacta ccaagaggac tggctcagtg gtggcaaaat
     2581 actggtgatg ctccctagag caggaggccc ggaagtgctg acgcagccat cagcctgcca
     2641 agattgtttt ttaatcttca cagtgtttta aagaacatgt taaaaaaaaa aaaatctagt
     2701 gctcctgctg tcaagatttc tgtcatggaa accttgtttg agaaaggtgt taataaaatt
     2761 ctattgcaaa aatttctttt tctagaaaaa ataaatacaa aaaaaaaaaa gaagaaattc
     2821 caaagtaata aaacttttct tgagacaaac aaaaaaaaag tttgcttact atttgattaa
     2881 ataaaattta cttacatttc tttaaggtat tttaattttt taatgtctct gtggagtatt
     2941 tgtatgatac cataatgtat atttatgtag aatcaaatta tataaacagt accaatatca
     3001 ttatagaaaa aaataacatt ttaatgtata ttgttctaac aatcatattg tgaatcattt
     3061 tgaagttcat tatagcgata ttgataaatt gtggaattgt cttaatgttt ttttattaac
     3121 tgacattatt ttaaacctaa ctgagatgat cagttacatt catcagttgg tgagttttga
     3181 agaataacta cattttattt caaactaaca aatgtatacg gttttagttc agtgttgaag
     3241 aattttaata caatattaaa ttacttgaac tgaacagttc cttgtatata ttttgcctat
     3301 tcactgttga tatgtatgta gcaaaatgag agttaaataa cactaaaata tggtaccagg
     3361 aggcaattgt ataggagcaa agttaatagg agctttgctg aaacagaagc atatgtgtaa
     3421 ataagcttgg gcttccagtt ataaattttg taatttttgt cattatttat atcctataaa
     3481 aaaagcacac aaaaataaaa cagaagttgt acagca
//
