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Aliases for KIAA0586 Gene

Aliases for KIAA0586 Gene

  • KIAA0586 2 3
  • Talpid3 3 4
  • Protein TALPID3 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

Entrez Gene Summary for KIAA0586 Gene

  • This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]

GeneCards Summary for KIAA0586 Gene

KIAA0586 (KIAA0586) is a Protein Coding gene. Diseases associated with KIAA0586 include Joubert Syndrome 23 and Short-Rib Thoracic Dysplasia 14 With Polydactyly.

UniProtKB/Swiss-Prot for KIAA0586 Gene

  • Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity).

Additional gene information for KIAA0586 Gene

No data available for CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H059187 1.7 FANTOM5 ENCODE dbSUPER 21.7 +761.9 761855 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 ZNF207 ZNF143 KIAA0586 L3HYPDH ENSG00000258682 PSMA3-AS1 HMGB1P14 ARID4A DAAM1 GC14P059252
GH14H058426 1.4 ENCODE dbSUPER 20.4 +0.6 560 3 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000259969 TIMM9 KIAA0586 PSMA3-AS1 ENSG00000258682 SLC35F4 HMGB1P14 RPL31P4 RPL9P5 GC14P058442
GH14H059160 1.5 FANTOM5 Ensembl ENCODE 18.8 +734.4 734440 1 PKNOX1 FOXA2 ARID4B DMAP1 ATF7 RUNX3 SP5 PPARG KAT8 NFIL3 L3HYPDH KIAA0586 SCOCP1 GPR135 PCNX4 DAAM1 TIMM9 PPIAP5 AKR1B1P5
GH14H058296 1.7 FANTOM5 ENCODE dbSUPER 16.3 -128.9 -128948 4 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 PSMA3-AS1 ENSG00000258682 KIAA0586 TOMM20L ARID4A ACTR10 GC14P058345
GH14H058660 0.7 ENCODE 34.5 +232.9 232943 0 ZNF202 ZFP64 ZC3H11A ZNF140 ZBTB8A ZNF781 ZNF518A NR2F2 ZNF697 ZNF555 KIAA0586 PSMA3-AS1 ENSG00000258682 HMGB1P14 L3HYPDH GPR135 TIMM9 DACT1 JKAMP ARID4A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000069047 215 2801 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

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:
    • Interacts with CCP110, CEP290, CEP97, KIF24.
    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

Post-translational modifications for KIAA0586 Gene

  • Ubiquitination at posLast=380380 and isoforms=2, 3, 4688
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIAA0586 Gene

Domains & Families for KIAA0586 Gene

Gene Families for KIAA0586 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 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. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity).
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIAA0586
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Photoreceptor inner segment. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Forms a ring-like structure at the extreme distal end of both mother and daughter centrioles (PubMed:24421332). In photoreceptor cells localized to the joint between the inner and outer segments, specifically localized at the mother centriole (basal body) and the adjacent centriole as well as between the two centrioles but not in the connecting cilium (PubMed:26386247). {ECO:0000269 PubMed:24421332, ECO:0000269 PubMed:26386247}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIAA0586 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIAA0586 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 19144723
GO:0005814 centriole IBA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with KIAA0586: view

Pathways & Interactions for KIAA0586 Gene

SuperPathways for KIAA0586 Gene

No Data Available

Interacting Proteins for KIAA0586 Gene

Gene Ontology (GO) - Biological Process for KIAA0586 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS,IEA --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP,ISS --
GO:0070201 regulation of establishment of protein localization IMP 24421332
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIAA0586
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for KIAA0586 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of KIAA0586 Gene:

KIAA0586

SOURCE GeneReport for Unigene cluster for KIAA0586 Gene:

Hs.232532

mRNA Expression by UniProt/SwissProt for KIAA0586 Gene:

Q9BVV6-TALD3_HUMAN
Tissue specificity: Ubiquitously expressed (PubMed:26386044). Expressed in photoreceptor cells (at protein level) (PubMed:26386247).

Evidence on tissue expression from TISSUES for KIAA0586 Gene

  • Skin(4.2)
  • Nervous system(4.2)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIAA0586 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • penis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
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 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
chimpanzee
(Pan troglodytes)
Mammalia KIAA0586 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia KIAA0586 33 34
  • 86.36 (n)
cow
(Bos Taurus)
Mammalia KIAA0586 33 34
  • 86.23 (n)
mouse
(Mus musculus)
Mammalia 2700049A03Rik 33 16 34
  • 78.86 (n)
rat
(Rattus norvegicus)
Mammalia LOC690035 33
  • 78.54 (n)
oppossum
(Monodelphis domestica)
Mammalia KIAA0586 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0586 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA0586 33
  • 60.99 (n)
TALPID3 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA0586 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa0586 33
  • 54.22 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537345 33
  • 48.98 (n)
si:ch211-185a18.2 34 34
  • 39 (a)
OneToMany
Species where no ortholog for KIAA0586 was found in the sources mined by GeneCards:
  • 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
VAR_074596 Joubert syndrome 23 (JBTS23) [MIM:616490]
VAR_076328 Joubert syndrome 23 (JBTS23) [MIM:616490]
rs1057516038 Pathogenic 58,444,158(+) AACAA(C/T)AACAA reference, stop-gained
rs201097695 Pathogenic 58,444,011(+) AATTA(C/G/T)AGGAG reference, missense
rs534542684 Pathogenic 58,432,439(+) TCTAA(-/G)AACAG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv826960 CNV loss 20364138
nsv983831 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0586

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

Disorders for KIAA0586 Gene

MalaCards: The human disease database

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

- 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:26026149, ECO:0000269 PubMed:26096313, ECO:0000269 PubMed:26386044, ECO:0000269 PubMed:26386247, ECO:0000269 PubMed:26429889}. Note=The disease is caused by mutations affecting the gene represented in this entry. Some patients with biallelic KIAA0586 mutations manifest a disease phenotype with features of Joubert syndrome and additional findings of a small thorax and respiratory problems consistent with Jeune syndrome (Joubert-Jeune ciliopathy). {ECO:0000269 PubMed:26386044}.
  • 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 (Human mutation 2015) 2 3 4 60
  2. TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). (PMID: 26386247) Stephen LA … Bolz HJ (eLife 2015) 2 3 4 60
  3. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. (PMID: 26026149) Roosing S … Gleeson JG (eLife 2015) 2 3 4 60
  4. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. (PMID: 26166481) Alby C … Thomas S (American journal of human genetics 2015) 3 4 60
  5. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. (PMID: 26386044) Malicdan MC … Gunay-Aygun M (Journal of medical genetics 2015) 3 4 60

Products for KIAA0586 Gene

Sources for KIAA0586 Gene

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