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    ANKDD1B ankyrin repeat and death domain containing 1B [ Homo sapiens (human) ]

    Gene ID: 728780, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKDD1Bprovided by HGNC
    Official Full Name
    ankyrin repeat and death domain containing 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:32525
    See related
    Ensembl:ENSG00000189045 MIM:619920; AllianceGenome:HGNC:32525
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in colon (RPKM 1.1), kidney (RPKM 0.9) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKDD1B in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75611453..75671846)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (76092523..76152917)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74907278..74967671)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74675495-74675665 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74683071-74684270 Neighboring gene ribosomal protein S26 pseudogene 26 Neighboring gene ceramide transporter 1 Neighboring gene MPRA-validated peak5292 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74723894-74724394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74724395-74724895 Neighboring gene MPRA-validated peak5293 silencer Neighboring gene MPRA-validated peak5294 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22681 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74832057-74832255 Neighboring gene DNA polymerase kappa Neighboring gene RNA, U7 small nuclear 175 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74861405-74862604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22683 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:74884456-74885040 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74905964-74906771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74906772-74907578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74907579-74908385 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:74959194-74960393 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74962804-74963305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74991871-74992409 Neighboring gene POC5 centriolar protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22684 Neighboring gene RNA, U6 small nuclear 680, pseudogene Neighboring gene uncharacterized LOC441087

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Risk of migraine contributed by genetic polymorphisms of ANKDD1B gene: a case-control study based on Chinese Han population. Zhang T, et al. Neurol Sci, 2022 Apr. PMID 34669083
    2. Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient. Tan Z, et al. BMC Med Genet, 2018 Jul 5. PMID 29976160, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Risk of migraine contributed by genetic polymorphisms of ANKDD1B gene: a case-control study based on Chinese Han population.
      Title: Risk of migraine contributed by genetic polymorphisms of ANKDD1B gene: a case-control study based on Chinese Han population.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and death domain-containing protein 1B
    Names
    ankyrin repeat and death domain-containing protein ENSP00000345065

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001276713.2 → NP_001263642.1  ankyrin repeat and death domain-containing protein 1B

      See identical proteins and their annotated locations for NP_001263642.1

      Status: VALIDATED

      Source sequence(s)
      AC010245
      Consensus CDS
      CCDS64180.1
      UniProtKB/Swiss-Prot
      A6NHY2
      UniProtKB/TrEMBL
      A0A5F9ZHN1
      Related
      ENSP00000471417.1, ENST00000601380.4
      Conserved Domains (4) summary
      sd00045
      Location:102 → 131
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:75 → 121
      Ank_4; Ankyrin repeats (many copies)
      cl14633
      Location:440 → 510
      DD; Death Domain Superfamily of protein-protein interaction domains
      cl39094
      Location:120 → 366
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      75611453..75671846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009814.2 → XP_016865303.1  ankyrin repeat and death domain-containing protein 1B isoform X1

    2. XM_017009815.2 → XP_016865304.1  ankyrin repeat and death domain-containing protein 1B isoform X2

      UniProtKB/TrEMBL
      A0A5F9ZHN1

    3. XM_017009816.2 → XP_016865305.1  ankyrin repeat and death domain-containing protein 1B isoform X3

    4. XM_011543618.3 → XP_011541920.1  ankyrin repeat and death domain-containing protein 1B isoform X4

      UniProtKB/TrEMBL
      A0A5F9ZHN1
      Related
      ENSP00000500535.1, ENST00000672660.1
      Conserved Domains (4) summary
      cd00204
      Location:102 → 221
      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 ...
      pfam12796
      Location:105 → 194
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:75 → 121
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:102 → 131
      ANK; ANK repeat [structural motif]

    5. XM_047417686.1 → XP_047273642.1  ankyrin repeat and death domain-containing protein 1B isoform X6

      UniProtKB/TrEMBL
      A0A5F9ZHN3
      Related
      ENSP00000500471.1, ENST00000672844.1

    6. XM_011543623.3 → XP_011541925.1  ankyrin repeat and death domain-containing protein 1B isoform X5

      UniProtKB/TrEMBL
      A0A5F9ZHN3
      Conserved Domains (4) summary
      cd00204
      Location:85 → 209
      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 ...
      pfam12796
      Location:127 → 219
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:90 → 120
      ANK; ANK repeat [structural motif]
      cl14633
      Location:291 → 368
      DD; Death Domain Superfamily of protein-protein interaction domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      76092523..76152917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353410.1 → XP_054209385.1  ankyrin repeat and death domain-containing protein 1B isoform X7

    2. XM_054353412.1 → XP_054209387.1  ankyrin repeat and death domain-containing protein 1B isoform X8

      UniProtKB/TrEMBL
      A0A5F9ZHN1

    3. XM_054353411.1 → XP_054209386.1  ankyrin repeat and death domain-containing protein 1B isoform X2

      UniProtKB/TrEMBL
      A0A5F9ZHN1

    4. XM_054353413.1 → XP_054209388.1  ankyrin repeat and death domain-containing protein 1B isoform X9

    5. XM_054353414.1 → XP_054209389.1  ankyrin repeat and death domain-containing protein 1B isoform X4

      UniProtKB/TrEMBL
      A0A5F9ZHN1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001271529.1: Suppressed sequence

      Description
      NM_001271529.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this splice pattern.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NHY2.3 GenPept UniProtKB/Swiss-Prot:A6NHY2

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