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

Gene ID: 728780, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in colon (RPKM 1.1), kidney (RPKM 0.9) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
5q13.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75611453..75671846)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (76092523..76152917)
105.20220307 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)

Genotypes

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_2023_10

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

    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

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

  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

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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