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    ANKRD33 ankyrin repeat domain 33 [ Homo sapiens (human) ]

    Gene ID: 341405, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKRD33provided by HGNC
    Official Full Name
    ankyrin repeat domain 33provided by HGNC
    Primary source
    HGNC:HGNC:13788
    See related
    Ensembl:ENSG00000167612 MIM:620857; AllianceGenome:HGNC:13788
    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
    Also known as
    PANKY; C12orf7
    Summary
    Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in placenta (RPKM 1.3) and testis (RPKM 0.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD33 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51888103..51891727)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51851678..51855302)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52281887..52285511)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52208409-52208908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4474 Neighboring gene transmembrane and death domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52220360-52220860 Neighboring gene fidgetin like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52221534-52222085 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52223188-52223737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52229864-52230815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52238698-52239408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52239409-52240117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52240828-52241536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52241735-52242726 Neighboring gene FIGNL2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52256788-52257308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52262827-52263460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52263461-52264092 Neighboring gene filamin-B-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52301449-52301957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52307107-52307940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52308586-52309472 Neighboring gene activin A receptor like type 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52311731-52312303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6385

    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 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. Panky, a novel photoreceptor-specific ankyrin repeat protein, is a transcriptional cofactor that suppresses CRX-regulated photoreceptor genes. Sanuki R, et al. FEBS Lett, 2010 Feb 19. PMID 20026326
    2. Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. McClay JL, et al. Neuropsychopharmacology, 2011 Feb. PMID 21107309, Free PMC Article
    3. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    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

    EBI GWAS Catalog

    Description
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    EBI GWAS Catalog

    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

    Clone Names

    • DKFZp686O1689

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    photoreceptor ankyrin repeat protein
    Names
    ankyrin repeat domain-containing protein 33

    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_001130015.2 → NP_001123487.1  photoreceptor ankyrin repeat protein isoform 1

      See identical proteins and their annotated locations for NP_001123487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks one internal exon and an internal segment in the coding region, compared to variant 3. The resulting isoform (1) lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AC025259, AF517120, BC121152, BC121153
      Consensus CDS
      CCDS44892.1
      UniProtKB/Swiss-Prot
      Q7Z3H0
      UniProtKB/TrEMBL
      Q0VAA8, Q5K617
      Related
      ENSP00000344690.4, ENST00000340970.8
      Conserved Domains (2) summary
      cd00204
      Location:1 → 115
      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 ...
      sd00045
      Location:29 → 62
      ANK; ANK repeat [structural motif]

    2. NM_001304459.2 → NP_001291388.1  photoreceptor ankyrin repeat protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes a 348aa protein (isoform 3).
      Source sequence(s)
      AC025259, AF517120, AK125517, BC121152, BX649168
      UniProtKB/Swiss-Prot
      Q7Z3H0
      UniProtKB/TrEMBL
      Q0VAA8, Q5K617
      Conserved Domains (3) summary
      cd00204
      Location:1 → 136
      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 ...
      pfam13857
      Location:14 → 72
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:29 → 62
      ANK; ANK repeat [structural motif]

    3. NM_001304460.2 → NP_001291389.1  photoreceptor ankyrin repeat protein isoform 4

      See identical proteins and their annotated locations for NP_001291389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two internal exons and an internal segment, compared to variant 3. The resulting isoform (4) is shorter at the N-terminus and lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AC025259, AF517120, BC121152
      UniProtKB/TrEMBL
      Q0VAA8
      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 → 46
      Ank_2; Ankyrin repeats (3 copies)

    4. NM_182608.4 → NP_872414.3  photoreceptor ankyrin repeat protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has two alternate splice sites and lacks an internal exon in the coding region, compared to variant 3. The resulting isoform (2) is the longest isoform, which is longer at the N-terminus and lacks an internal segment, compared to isoform 3.
      Source sequence(s)
      AC025259, AF517120, AK125517, BC121152, BC121153, BX649168
      Consensus CDS
      CCDS8815.1
      UniProtKB/Swiss-Prot
      Q0VAA7, Q5K619, Q5K621, Q5K622, Q5K623, Q5K624, Q6ZUN0, Q7Z3H0
      Related
      ENSP00000301190.6, ENST00000301190.11
      Conserved Domains (2) summary
      cd00204
      Location:98 → 212
      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 ...
      sd00045
      Location:98 → 128
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51888103..51891727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428783.1 → XP_047284739.1  photoreceptor ankyrin repeat protein isoform X3

    2. XM_047428782.1 → XP_047284738.1  photoreceptor ankyrin repeat protein isoform X1

    3. XM_017019258.2 → XP_016874747.1  photoreceptor ankyrin repeat protein isoform X2

    4. XM_047428784.1 → XP_047284740.1  photoreceptor ankyrin repeat protein isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51851678..51855302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371949.1 → XP_054227924.1  photoreceptor ankyrin repeat protein isoform X3

    2. XM_054371947.1 → XP_054227922.1  photoreceptor ankyrin repeat protein isoform X1

    3. XM_054371950.1 → XP_054227925.1  photoreceptor ankyrin repeat protein isoform X4

    4. XM_054371948.1 → XP_054227923.1  photoreceptor ankyrin repeat protein isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z3H0.4 GenPept UniProtKB/Swiss-Prot:Q7Z3H0

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