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    ANKRD33B ankyrin repeat domain 33B [ Homo sapiens (human) ]

    Gene ID: 651746, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD33Bprovided by HGNC
    Official Full Name
    ankyrin repeat domain 33Bprovided by HGNC
    Primary source
    HGNC:HGNC:35240
    See related
    Ensembl:ENSG00000164236 AllianceGenome:HGNC:35240
    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
    Expression
    Broad expression in brain (RPKM 5.5), kidney (RPKM 5.1) and 20 other tissues See more
    Orthologs
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    Genomic context

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    See ANKRD33B in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (10564070..10657816)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (10503260..10595837)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10564182..10657928)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10503261-10504155 Neighboring gene long intergenic non-protein coding RNA 2212 Neighboring gene long intergenic non-protein coding RNA 2213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10532633-10533600 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10551849-10552646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10564245-10565139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10565140-10566033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10566137-10566638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22364 Neighboring gene Sharpr-MPRA regulatory region 12583 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:10595324-10596523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10631614-10632356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10637082-10637814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:10656245-10657193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10673987-10674687 Neighboring gene intersectin 1 (SH3 domain protein) pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10681857-10682357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10699642-10700465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10702999-10703721 Neighboring gene death associated protein Neighboring gene ReSE screen-validated silencer GRCh37_chr5:10726428-10726591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:10727463-10727962 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:10731097-10731598 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:10731599-10732098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15930 Neighboring gene DAP divergent transcript

    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. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
    2. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    3. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Castello A, et al. Cell, 2012 Jun 8. PMID 22658674

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 33B
    Names
    Ankyrin repeat domain-containing protein LOC651746

    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_001164440.2 → NP_001157912.1  ankyrin repeat domain-containing protein 33B

      See identical proteins and their annotated locations for NP_001157912.1

      Status: VALIDATED

      Source sequence(s)
      AC106760, AC112200
      Consensus CDS
      CCDS47191.1
      UniProtKB/Swiss-Prot
      A6NCL7
      Related
      ENSP00000296657.4, ENST00000296657.7
      Conserved Domains (4) summary
      cd00204
      Location:116 → 243
      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:125 → 220
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:85 → 140
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:120 → 152
      ANK; ANK repeat [structural motif]

    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
      10564070..10657816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248343.5 → XP_005248400.1  ankyrin repeat domain-containing protein 33B isoform X1

      See identical proteins and their annotated locations for XP_005248400.1

      Conserved Domains (2) summary
      cd00204
      Location:1 → 55
      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:1 → 57
      Ank_2; Ankyrin repeats (3 copies)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      10503260..10595837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353192.1 → XP_054209167.1  ankyrin repeat domain-containing protein 33B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NCL7.1 GenPept UniProtKB/Swiss-Prot:A6NCL7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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