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    ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B [ Homo sapiens ]

    Gene ID: 56899, updated on 11-May-2012

    Summary

    Official Symbol
    ANKS1Bprovided by HGNC
    Official Full Name
    ankyrin repeat and sterile alpha motif domain containing 1Bprovided by HGNC
    Primary source
    HGNC:24600
    See related
    Ensembl:ENSG00000185046; HPRD:07426; MIM:607815; Vega:OTTHUMG00000170308
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EB1; AIDA; EB-1; ANKS2; AIDA-1; cajalin-2; MGC26087
    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]

    Genomic context

    Location :
    12q23.1
    Sequence :
    Chromosome: 12; NC_000012.11 (99128569..100378432, complement)
    See ANKS1B in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505759 Neighboring gene IKBKB interacting protein Neighboring gene apoptotic peptidase activating factor 1 Neighboring gene family with sequence similarity 71, member C Neighboring gene UHRF1 binding protein 1-like Neighboring gene ribosomal protein S4X pseudogene 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    AAP37613.1 NP_004636.1 COIL    BIND  PubMed AIDA-1a interacts with COIL. 
    AAV28691.1 NP_004636.1 COIL    BIND  PubMed AIDA-1c interacts with COIL. 
    E2a-Pbx1 associated protein P28223 HTR2A    HPRD  PubMed  
    E2a-Pbx1 associated protein P98164 LRP2    HPRD  PubMed  
    BioGRID:121229 BioGRID:110216 LRP2    BioGRID  PubMed Two-hybrid 
    BioGRID:121229 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex; Two-hybrid 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ephrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat and sterile alpha motif domain-containing protein 1B
    Names
    ankyrin repeat and sterile alpha motif domain-containing protein 1B
    cajalin 2
    E2a-Pbx1-associated protein
    amyloid-beta precursor protein intracellular domain associated protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029860.1 RefSeqGene

      Range
      5001..1254864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204065.1NP_001190994.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding region, in the 3' UTR and coding region, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (d) has a shorter N-terminus, a longer and distinct C-terminus, and an additional segment compared to isoform a.
      Source sequence(s)
      AC008126, AK315954, BC150204, BP193713, DB475766
      UniProtKB/TrEMBL
      B7Z9I9
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000331256, OTTHUMP00000243464, ENST00000333732, OTTHUMT00000408430
      Conserved Domains (1) summary
      cl00273
      Location:89220
      Blast Score: 525
      PH-like; Pleckstrin homology-like domain
    2. NM_001204066.1NP_001190995.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding region, in the 3' UTR and coding region, lacks an alternate in-frame segment, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (e) has a shorter N-terminus, a longer and distinct C-terminus, a missing segment, and an additional segment compared to isoform a.
      Source sequence(s)
      BC026313, BC068451, BC150204
      Consensus CDS
      CCDS55865.1
      UniProtKB/TrEMBL
      F8VZR9
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000447312, OTTHUMP00000243461, ENST00000549025, OTTHUMT00000408427
      Conserved Domains (2) summary
      cl00273
      Location:157288
      Blast Score: 526
      PH-like; Pleckstrin homology-like domain
      cl15755
      Location:146
      Blast Score: 231
      SAM_superfamily; SAM (Sterile alpha motif )
    3. NM_001204067.1NP_001190996.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding region, in the 3' UTR and coding region, and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus, a longer and distinct C-terminus, and a missing segment compared to isoform a.
      Source sequence(s)
      AK294191, BC026313, BC068451, BC150204
      Consensus CDS
      CCDS55871.1
      UniProtKB/TrEMBL
      B4DFP6
      UniProtKB/TrEMBL
      F8VPM3
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000450015, OTTHUMP00000243463, ENST00000547446, OTTHUMT00000408429
      Conserved Domains (4) summary
      cd09499
      Location:672
      Blast Score: 345
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:77141
      Blast Score: 327
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:368
      Blast Score: 181
      SAM; Sterile alpha motif.
      cl00273
      Location:194325
      Blast Score: 534
      PH-like; Pleckstrin homology-like domain
    4. NM_001204068.1NP_001190997.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform g

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AY281132, BC026313, BC142669, BC150204, DA690060
      Consensus CDS
      CCDS55869.1
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000447839, OTTHUMP00000243468, ENST00000546960, OTTHUMT00000408435
      Conserved Domains (4) summary
      cd09499
      Location:37103
      Blast Score: 345
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:108172
      Blast Score: 328
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:3499
      Blast Score: 182
      SAM; Sterile alpha motif.
      cl00273
      Location:285416
      Blast Score: 536
      PH-like; Pleckstrin homology-like domain
    5. NM_001204069.1NP_001190998.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and coding region, in the 3' UTR and coding region, lacks an alternate in-frame exon, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (h) has a shorter and distinct N-terminus, a longer and distinct C-terminus, a missing segment, and an additional segment compared to isoform a.
      Source sequence(s)
      BC150204, DA690060
      Consensus CDS
      CCDS55868.1
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000447999, OTTHUMP00000243460, ENST00000550693, OTTHUMT00000408426
      Conserved Domains (4) summary
      cd09499
      Location:37103
      Blast Score: 347
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:108172
      Blast Score: 327
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:3499
      Blast Score: 182
      SAM; Sterile alpha motif.
      cl00273
      Location:249380
      Blast Score: 534
      PH-like; Pleckstrin homology-like domain
    6. NM_001204070.1NP_001190999.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and coding region, in the 3' UTR and coding region, and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (i, also known as AIDA-1c) has a shorter and distinct N-terminus, a longer and distinct C-terminus, and a missing segment compared to isoform a.
      Source sequence(s)
      AY753193, BC150204, DA690060
      Consensus CDS
      CCDS55867.1
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000448205, OTTHUMP00000243467, ENST00000546568, OTTHUMT00000408434
      Conserved Domains (4) summary
      cd09499
      Location:37103
      Blast Score: 346
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:108172
      Blast Score: 327
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:3499
      Blast Score: 181
      SAM; Sterile alpha motif.
      cl00273
      Location:225356
      Blast Score: 534
      PH-like; Pleckstrin homology-like domain
    7. NM_001204079.1NP_001191008.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and coding region, in the 3' UTR and coding region, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (j) has a shorter N-terminus, a longer and distinct C-terminus, and an additional segment compared to isoform a.
      Source sequence(s)
      AC008126, AM980945, BC150204, BP193713, DB475766
      UniProtKB/TrEMBL
      B1VKB5
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Conserved Domains (1) summary
      cl00273
      Location:90221
      Blast Score: 525
      PH-like; Pleckstrin homology-like domain
    8. NM_001204080.1NP_001191009.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and coding region and in the 3' UTR and coding region compared to variant 1. The resulting isoform (k) has a shorter and distinct N-terminus and a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC008126, AY356353, BC150204, BP193713, DB475766
      UniProtKB/TrEMBL
      Q6V0K8
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Conserved Domains (1) summary
      cl00273
      Location:65196
      Blast Score: 526
      PH-like; Pleckstrin homology-like domain
    9. NM_001204081.1NP_001191010.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (l) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC008126, AC011248, AK294994, BC142669, BP193713, DB475766
      Consensus CDS
      CCDS55864.1
      UniProtKB/TrEMBL
      B4DH98
      UniProtKB/TrEMBL
      F8WC27
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000345510, ENST00000341752
      Conserved Domains (1) summary
      cl00273
      Location:65196
      Blast Score: 521
      PH-like; Pleckstrin homology-like domain
    10. NM_020140.3NP_064525.1  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus and lacks an alternate segment compared to isoform a.
      Source sequence(s)
      AC011248, AC117377, BC142669, DA690060
      Consensus CDS
      CCDS55866.1
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000448993, OTTHUMP00000243458, ENST00000549558, OTTHUMT00000408423
      Conserved Domains (4) summary
      cd09499
      Location:37103
      Blast Score: 345
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:108172
      Blast Score: 325
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:3499
      Blast Score: 180
      SAM; Sterile alpha motif.
      cl00273
      Location:225356
      Blast Score: 532
      PH-like; Pleckstrin homology-like domain
    11. NM_152788.4NP_690001.3  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as AIDA-1b).
      Source sequence(s)
      AC011248, AK124453, AY281131, BC142669, DA183756, DA783474
      Consensus CDS
      CCDS55872.1
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000449629, OTTHUMP00000243457, ENST00000547776, OTTHUMT00000408421
      Conserved Domains (6) summary
      cd00204
      Location:53181
      Blast Score: 319
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd09499
      Location:811877
      Blast Score: 345
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:882946
      Blast Score: 324
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:808873
      Blast Score: 184
      SAM; Sterile alpha motif.
      pfam12796
      Location:63158
      Blast Score: 242
      Ank_2; Ankyrin repeats (3 copies)
      cl00273
      Location:10591190
      Blast Score: 530
      PH-like; Pleckstrin homology-like domain
    12. NM_181670.3NP_858056.2  ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region, in the 3' UTR and coding region, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus, a longer and distinct C-terminus, and an additional segment compared to isoform a.
      Source sequence(s)
      BC026313, BC150204, DA690060
      Consensus CDS
      CCDS55870.1
      UniProtKB/Swiss-Prot
      Q7Z6G8
      Related
      ENSP00000448203, OTTHUMP00000243462, ENST00000549493, OTTHUMT00000408428
      Conserved Domains (4) summary
      cd09499
      Location:37103
      Blast Score: 345
      SAM_AIDA1AB-like_repeat1; SAM domain of AIDA1AB-like proteins, repeat 1
      cd09500
      Location:108172
      Blast Score: 327
      SAM_AIDA1AB-like_repeat2; SAM domain of AIDA1AB-like proteins, repeat 2
      smart00454
      Location:3499
      Blast Score: 182
      SAM; Sterile alpha motif.
      cl00273
      Location:309440
      Blast Score: 536
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      99128569..100378432, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      96189664..97280648, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC008126.9 None
    genomic AC011248.8 None
    genomic AC021653.26 (2003..15580) None
    genomic AC048330.20 (2006..188718) None
    genomic AC069437.24 None
    genomic AC078916.19 (6384..170673) None
    genomic AC079954.18 (1977..158782) None
    genomic AC084374.21 (2002..122601) None
    genomic AC117377.9 (2024..107099) None
    genomic AC126616.4 (1999..14789) None
    genomic AC141554.5 (2004..141735) None
    genomic AC141555.2 (2001..4000) None
    genomic AC141556.5 (2007..85711) None
    mRNA AF145204.1 AAD33951.1
    mRNA AF164792.1 AAF80756.1
    mRNA AK124453.1 None
    mRNA AK289768.1 BAF82457.1
    mRNA AK294191.1 BAG57507.1
    mRNA AK294994.1 BAG58059.1
    mRNA AK295988.1 BAG58763.1
    mRNA AK315954.1 BAH14325.1
    mRNA AM980945.1 CAQ37746.1
    mRNA AY281131.1 AAP37612.1
    mRNA AY281132.1 AAP37613.1
    mRNA AY283057.2 AAP38184.2
    mRNA AY356353.1 AAQ56189.1
    mRNA AY620824.1 AAT39519.1
    mRNA AY753193.1 AAV28691.1
    mRNA BC026313.1 AAH26313.2
    mRNA BC068451.1 AAH68451.1
    mRNA BC091512.1 None
    mRNA BC142669.1 AAI42670.1
    mRNA BC150204.1 AAI50205.1
    mRNA BG338019.1 None
    mRNA BP193713.1 None
    mRNA BQ614098.1 None
    mRNA BU568171.1 None
    mRNA D80328.1 None
    mRNA DA183756.1 None
    mRNA DA690060.1 None
    mRNA DA783474.1 None
    mRNA DB475766.1 None
    other-genetic BC160005.1 AAI60005.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6V0K8 GenPept UniProtKB/TrEMBL:Q6V0K8
    Q7Z6G8.2 GenPept UniProtKB/Swiss-Prot:Q7Z6G8

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