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Aliases for KIAA0586 Gene

Aliases for KIAA0586 Gene

  • KIAA0586 2 3
  • Talpid3 3 4
  • Ortholog Of Chicken Talpid{3} 3
  • JBTS23 3
  • SRTD14 3

External Ids for KIAA0586 Gene

Previous GeneCards Identifiers for KIAA0586 Gene

  • GC14P056218
  • GC14P052690
  • GC14P056884
  • GC14P057963
  • GC14P058894
  • GC14P039059

Summaries for KIAA0586 Gene

GeneCards Summary for KIAA0586 Gene

KIAA0586 (KIAA0586) is a Protein Coding gene. Diseases associated with KIAA0586 include Joubert Syndrome 1 and Short-Rib Thoracic Dysplasia 14 With Polydactyly.

UniProtKB/Swiss-Prot for KIAA0586 Gene

  • Required for ciliogenesis and sonic hedgehog/SHH signaling.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA0586 Gene

Genomics for KIAA0586 Gene

Regulatory Elements for KIAA0586 Gene

Enhancers for KIAA0586 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIAA0586 on UCSC Golden Path with GeneCards custom track

Promoters for KIAA0586 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIAA0586 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIAA0586 Gene

Chromosome:
14
Start:
58,427,385 bp from pter
End:
58,551,289 bp from pter
Size:
123,905 bases
Orientation:
Plus strand

Genomic View for KIAA0586 Gene

Genes around KIAA0586 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0586 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0586 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0586 Gene

Proteins for KIAA0586 Gene

  • Protein details for KIAA0586 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVV6-TALD3_HUMAN
    Recommended name:
    Protein TALPID3
    Protein Accession:
    Q9BVV6
    Secondary Accessions:
    • B4DZB6
    • E7EWM8
    • J3KQH9
    • O60328
    • Q6NYC6
    • Q6UV20

    Protein attributes for KIAA0586 Gene

    Size:
    1533 amino acids
    Molecular mass:
    169307 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25512.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0586 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0586 Gene

Proteomics data for KIAA0586 Gene at MOPED

Post-translational modifications for KIAA0586 Gene

  • Ubiquitination at Lys 380 and Lys 688
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0586 Gene

Domains & Families for KIAA0586 Gene

Protein Domains for KIAA0586 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BVV6

UniProtKB/Swiss-Prot:

TALD3_HUMAN :
  • Belongs to the TALPID3 family.
Family:
  • Belongs to the TALPID3 family.
genes like me logo Genes that share domains with KIAA0586: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for KIAA0586 Gene

Function for KIAA0586 Gene

Molecular function for KIAA0586 Gene

UniProtKB/Swiss-Prot Function:
Required for ciliogenesis and sonic hedgehog/SHH signaling.
genes like me logo Genes that share phenotypes with KIAA0586: view

Human Phenotype Ontology for KIAA0586 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIAA0586 Gene

MGI Knock Outs for KIAA0586:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KIAA0586 Gene

Localization for KIAA0586 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA0586 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA0586 Gene COMPARTMENTS Subcellular localization image for KIAA0586 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for KIAA0586 Gene

Pathways & Interactions for KIAA0586 Gene

SuperPathways for KIAA0586 Gene

No Data Available

Interacting Proteins for KIAA0586 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261244%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000260983%0d%0a
Selected Interacting proteins: ENSP00000261244 for KIAA0586 Gene via STRING

Gene Ontology (GO) - Biological Process for KIAA0586 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with KIAA0586: view

No data available for Pathways by source and SIGNOR curated interactions for KIAA0586 Gene

Drugs & Compounds for KIAA0586 Gene

No Compound Related Data Available

Transcripts for KIAA0586 Gene

Unigene Clusters for KIAA0586 Gene

KIAA0586:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0586 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: - -
SP3:

Relevant External Links for KIAA0586 Gene

GeneLoc Exon Structure for
KIAA0586
ECgene alternative splicing isoforms for
KIAA0586

Expression for KIAA0586 Gene

mRNA expression in normal human tissues for KIAA0586 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIAA0586 Gene



SOURCE GeneReport for Unigene cluster for KIAA0586 Gene Hs.232532

genes like me logo Genes that share expression patterns with KIAA0586: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KIAA0586 Gene

Orthologs for KIAA0586 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIAA0586 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIAA0586 35
  • 86.23 (n)
  • 80.79 (a)
KIAA0586 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA0586 35
  • 86.36 (n)
  • 80.17 (a)
KIAA0586 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2700049A03Rik 35
  • 78.86 (n)
  • 70.46 (a)
2700049A03Rik 16
2700049A03Rik 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIAA0586 35
  • 99.48 (n)
  • 99.09 (a)
KIAA0586 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690035 35
  • 78.54 (n)
  • 71.1 (a)
oppossum
(Monodelphis domestica)
Mammalia KIAA0586 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0586 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0586 35
  • 60.99 (n)
  • 48.44 (a)
TALPID3 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0586 36
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0586 35
  • 54.22 (n)
  • 44.88 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100537345 35
  • 48.98 (n)
  • 38.73 (a)
si:ch211-185a18.2 36
  • 39 (a)
OneToMany
si:ch211-185a18.2 36
  • 29 (a)
OneToMany
Species with no ortholog for KIAA0586:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KIAA0586 Gene

ENSEMBL:
Gene Tree for KIAA0586 (if available)
TreeFam:
Gene Tree for KIAA0586 (if available)

Paralogs for KIAA0586 Gene

(4) SIMAP similar genes for KIAA0586 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KIAA0586: view

No data available for Paralogs for KIAA0586 Gene

Variants for KIAA0586 Gene

Sequence variations from dbSNP and Humsavar for KIAA0586 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1748986 - 58,470,698(+) ATCTC(C/T)TCCTC reference, missense
VAR_074596 Joubert syndrome 23 (JBTS23)
rs11611 -- 58,540,102(+) CAAAT(C/T)GAGCT reference, synonymous-codon
rs178389 -- 58,518,548(+) TTTTT(A/T)ACTGG intron-variant
rs178390 -- 58,525,428(+) ggtgg(G/T)gcgtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA0586 Gene

Variant ID Type Subtype PubMed ID
nsv901985 CNV Loss 21882294
nsv826960 CNV Loss 20364138

Variation tolerance for KIAA0586 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.34; 70.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIAA0586 Gene

Human Gene Mutation Database (HGMD)
KIAA0586

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0586 Gene

Disorders for KIAA0586 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KIAA0586 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
short-rib thoracic dysplasia 14 with polydactyly
  • srtd14
joubert syndrome with jeune asphyxiating thoracic dystrophy
  • jbts with jatd
ellis-van creveld syndrome
  • chondroectodermal dysplasia
asphyxiating thoracic dystrophy
  • ataxia telangiectasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TALD3_HUMAN
  • Joubert syndrome 23 (JBTS23) [MIM:616490]: A mild form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. {ECO:0000269 PubMed:26096313}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short-rib thoracic dysplasia 14 with polydactyly (SRTD14) [MIM:616546]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:26166481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIAA0586

Genetic Association Database (GAD)
KIAA0586
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIAA0586
genes like me logo Genes that share disorders with KIAA0586: view

No data available for Genatlas for KIAA0586 Gene

Publications for KIAA0586 Gene

  1. KIAA0586 is Mutated in Joubert Syndrome. (PMID: 26096313) Bachmann-Gagescu R. … Doherty D. (Hum. Mutat. 2015) 2 3 4 67
  2. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. (PMID: 26026149) Roosing S. … Gleeson J.G. (Elife 2015) 2 3
  3. TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). (PMID: 26386247) Stephen L.A. … Bolz H.J. (Elife 2015) 2 3
  4. The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling. (PMID: 16702409) Davey M.G. … Burt D.W. (Genes Dev. 2006) 2 3
  5. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. (PMID: 26166481) Alby C. … Thomas S. (Am. J. Hum. Genet. 2015) 3

Products for KIAA0586 Gene

Sources for KIAA0586 Gene

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