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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
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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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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)

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

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