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    ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 124401, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKS3provided by HGNC
    Official Full Name
    ankyrin repeat and sterile alpha motif domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:29422
    See related
    Ensembl:ENSG00000168096 MIM:617310; AllianceGenome:HGNC:29422
    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 located in cytoplasm. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 3.4), kidney (RPKM 3.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKS3 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4696511..4734271, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4725963..4763728, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4746512..4784272, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene mahogunin ring finger 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4723069-4723658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4723659-4724246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4726242-4726864 Neighboring gene microRNA 6769a Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4732781-4733281 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4740387-4740751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10343 Neighboring gene hESC enhancers GRCh37_chr16:4743475-4743982 and GRCh37_chr16:4743983-4744490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4745093-4745593 Neighboring gene nudix hydrolase 16 like 1 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4763641-4764282 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4764283-4764922 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4768049-4768651 and GRCh37_chr16:4768652-4769253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7164 Neighboring gene dynein axonemal assembly factor 8 Neighboring gene zinc finger protein 500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10344 Neighboring gene septin 12 Neighboring gene small integral membrane protein 22

    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. Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3. Leettola CN, et al. BMC Struct Biol, 2014 Jul 7. PMID 24998259, Free PMC Article
    2. ANKS3 is mutated in a family with autosomal recessive laterality defect. Shamseldin HE, et al. Hum Genet, 2016 Nov. PMID 27417436
    3. Anks3 alters the sub-cellular localization of the Nek7 kinase. Ramachandran H, et al. Biochem Biophys Res Commun, 2015 Aug 28. PMID 26188091
    4. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    5. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Consistent with the proposed role of the ANKS3 variant in the pathogenesis of the reported family's phenotype, we show that the mutant RNA failed to rescue the laterality defect in anks3 morphants compared to wild-type RNA. Furthermore, we describe a new mutant anks3 line that also displays laterality defect in the homozygous state
      Title: ANKS3 is mutated in a family with autosomal recessive laterality defect.
    2. Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can bind to one end of the polymer; study presents crystal structures of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex, revealing the molecular details of their association.
      Title: Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32345, FLJ32767, KIAA1977

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SAM domain-containing protein 3

    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_001242929.2 → NP_001229858.1  ankyrin repeat and SAM domain-containing protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001229858.1

      Status: VALIDATED

      Source sequence(s)
      AC020663, AC023830, AI560632, AK123496, BX333650, DR004376
      Consensus CDS
      CCDS73820.1
      UniProtKB/TrEMBL
      F6WF08
      Related
      ENSP00000388270.3, ENST00000450067.6
      Conserved Domains (5) summary
      cd09519
      Location:317 → 380
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      smart00454
      Location:315 → 375
      SAM; Sterile alpha motif
      cd00204
      Location:39 → 114
      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 ...
      pfam13637
      Location:62 → 113
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:61 → 92
      ANK; ANK repeat [structural motif]

    2. NM_001308089.2 → NP_001295018.1  ankyrin repeat and SAM domain-containing protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001295018.1

      Status: VALIDATED

      Source sequence(s)
      AB075857, AC020663, AC023830, BC032314, BC050387
      Consensus CDS
      CCDS76813.1
      UniProtKB/TrEMBL
      D3DUE4, Q86W77
      Related
      ENSP00000406796.2, ENST00000446014.6
      Conserved Domains (3) summary
      cd09519
      Location:295 → 358
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      sd00045
      Location:6 → 36
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:1 → 70
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_001324129.2 → NP_001311058.1  ankyrin repeat and SAM domain-containing protein 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC020663, AC023830
      UniProtKB/TrEMBL
      Q86W77
      Conserved Domains (3) summary
      cd09519
      Location:251 → 314
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      cd00204
      Location:1 → 48
      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:1 → 26
      ANK; ANK repeat [structural motif]

    4. NM_001324130.2 → NP_001311059.1  ankyrin repeat and SAM domain-containing protein 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC020663, AC023830
      Conserved Domains (1) summary
      cd09519
      Location:134 → 197
      SAM_ANKS3; SAM domain of ANKS3 subfamily

    5. NM_133450.4 → NP_597707.1  ankyrin repeat and SAM domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_597707.1

      Status: VALIDATED

      Source sequence(s)
      AC020663, AI560632, AK123496
      Consensus CDS
      CCDS10520.1
      UniProtKB/Swiss-Prot
      B4DWU4, D3DUE2, Q6ZW76, Q8TF25
      Related
      ENSP00000304586.4, ENST00000304283.9
      Conserved Domains (4) summary
      cd09519
      Location:424 → 487
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      cd00204
      Location:63 → 189
      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:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:173 → 221
      Ank_2; Ankyrin repeats (3 copies)

    RNA

    1. NR_040252.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020663, AI560632, AK123496, BM545219, DR004376
      Related
      ENST00000590193.5

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4696511..4734271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522373.2 → XP_011520675.1  ankyrin repeat and SAM domain-containing protein 3 isoform X2

      See identical proteins and their annotated locations for XP_011520675.1

      UniProtKB/Swiss-Prot
      B4DWU4, D3DUE2, Q6ZW76, Q8TF25
      Related
      ENSP00000480350.1, ENST00000614075.4
      Conserved Domains (4) summary
      cd09519
      Location:424 → 487
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      cd00204
      Location:63 → 189
      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:69 → 99
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:173 → 221
      Ank_2; Ankyrin repeats (3 copies)

    2. XM_011522372.2 → XP_011520674.1  ankyrin repeat and SAM domain-containing protein 3 isoform X1

      Conserved Domains (5) summary
      cd09519
      Location:436 → 499
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      smart00454
      Location:434 → 494
      SAM; Sterile alpha motif
      cd00204
      Location:75 → 201
      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:118 → 211
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:81 → 111
      ANK; ANK repeat [structural motif]

    3. XM_017022935.2 → XP_016878424.1  ankyrin repeat and SAM domain-containing protein 3 isoform X3

    4. XM_047433618.1 → XP_047289574.1  ankyrin repeat and SAM domain-containing protein 3 isoform X5

    5. XM_024450153.2 → XP_024305921.1  ankyrin repeat and SAM domain-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      Q86W77
      Conserved Domains (3) summary
      cd09519
      Location:251 → 314
      SAM_ANKS3; SAM domain of ANKS3 subfamily
      cd00204
      Location:1 → 48
      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:1 → 26
      ANK; ANK repeat [structural motif]

    6. XM_047433617.1 → XP_047289573.1  ankyrin repeat and SAM domain-containing protein 3 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4725963..4763728 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379600.1 → XP_054235575.1  ankyrin repeat and SAM domain-containing protein 3 isoform X2

      UniProtKB/Swiss-Prot
      B4DWU4, D3DUE2, Q6ZW76, Q8TF25

    2. XM_054379599.1 → XP_054235574.1  ankyrin repeat and SAM domain-containing protein 3 isoform X1

    3. XM_054379601.1 → XP_054235576.1  ankyrin repeat and SAM domain-containing protein 3 isoform X3

    4. XM_054379604.1 → XP_054235579.1  ankyrin repeat and SAM domain-containing protein 3 isoform X5

    5. XM_054379602.1 → XP_054235577.1  ankyrin repeat and SAM domain-containing protein 3 isoform X4

    6. XM_054379603.1 → XP_054235578.1  ankyrin repeat and SAM domain-containing protein 3 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZW76.1 GenPept UniProtKB/Swiss-Prot:Q6ZW76

    Gene LinkOut

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

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