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KIAA0586 KIAA0586 [ Homo sapiens (human) ]

Gene ID: 9786, updated on 2-Nov-2024

Summary

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Official Symbol
KIAA0586provided by HGNC
Official Full Name
KIAA0586provided by HGNC
Primary source
HGNC:HGNC:19960
See related
Ensembl:ENSG00000100578 MIM:610178; AllianceGenome:HGNC:19960
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JBTS23; SRTD14; Talpid3
Summary
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]
Expression
Broad expression in testis (RPKM 10.0), lymph node (RPKM 2.9) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See KIAA0586 in Genome Data Viewer
Location:
14q23.1
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58427400..58562090)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52634436..52767919)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (58894118..59018015)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 4A Neighboring gene TOMM20L divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5799 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5800 Neighboring gene translocase of outer mitochondrial membrane 20 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:58892441-58893384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8454 Neighboring gene translocase of inner mitochondrial membrane 9 Neighboring gene heat shock factor binding protein 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13498 Neighboring gene MPRA-validated peak2159 silencer Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:59024296-59024796 Neighboring gene ribosomal protein L9 pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:59092081-59092792 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:59093077-59093701 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:59094888-59095774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5801 Neighboring gene dishevelled binding antagonist of beta catenin 1

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. Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis. Zhao Q, et al. Mol Genet Genomic Med, 2023 Mar. PMID 36538006, Free PMC Article
  2. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Alby C, et al. Am J Hum Genet, 2015 Aug 6. PMID 26166481, Free PMC Article
  3. KIAA0586 is Mutated in Joubert Syndrome. Bachmann-Gagescu R, et al. Hum Mutat, 2015 Sep. PMID 26096313, Free PMC Article
  4. Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. Sumathipala D, et al. BMC Med Genet, 2020 May 7. PMID 32381069, Free PMC Article
  5. TALPID3 in Joubert syndrome and related ciliopathy disorders. Fraser AM, et al. Curr Opin Genet Dev, 2019 Jun. PMID 31326647

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
    Title: Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
  2. Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions.
    Title: Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions.
  3. CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
    Title: CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
  4. This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported.
    Title: Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
  5. Loss of KIAA0586 protein (TALPID3) function can cause both severe lethal and mild cilia-related developmental disorders [Review]
    Title: TALPID3 in Joubert syndrome and related ciliopathy disorders.
  6. Considering this and the high allele frequency of 0.003117 in the gnomAD database, we conclude that c.428delG represents a JBTS disease-causing variant only if present in compound heterozygous state with a more severe KIAA0586 variant, but not in a homozygous situation.
    Title: Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
  7. Talpid3, C2CD3, and OFD1 differentially regulate the assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19 module, centriolar satellites, and actin networks.
    Title: A distal centriolar protein network controls organelle maturation and asymmetry.
  8. In the absence of PCM1, Mib1 destabilizes Talpid3 through poly-ubiquitylation and suppresses cilium assembly.
    Title: Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis.
  9. biallelic deleterious mutations in KIAA0586 lead to Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
    Title: Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
  10. The authors demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for Joubert syndrome proteins, and also in pericentriolar locations.
    Title: TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description Tests
Joubert syndrome 23
MedGen: C4084822 OMIM: 616490 GeneReviews: Joubert Syndrome
Compare labs
Short-rib thoracic dysplasia 14 with polydactyly
MedGen: C4225286 OMIM: 616546 GeneReviews: Not available
Compare labs

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

  • FLJ44167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within regulation of establishment of protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein TALPID3

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.

Genomic

  1. NG_051335.2 RefSeqGene

    Range
    5016..128913
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1096

mRNA and Protein(s)

  1. NM_001244189.2 → NP_001231118.1  protein TALPID3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI378482, AK302836, AL135752, AL139021, AY359881, CN281643
    Consensus CDS
    CCDS58320.1
    UniProtKB/TrEMBL
    A0A494C0M8
    Related
    ENSP00000346359.6, ENST00000354386.10
    Conserved Domains (2) summary
    pfam13900
    Location:174 → 190
    GVQW; Putative domain of unknown function
    pfam15324
    Location:127 → 1410
    TALPID3; Hedgehog signalling target

  2. NM_001244190.2 → NP_001231119.1  protein TALPID3 isoform 2

    See identical proteins and their annotated locations for NP_001231119.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 5' coding region, uses a downstream start codon, and lacks several alternate in-frame exons, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB011158, AI378482, AK302836, AL135752, AL139021, AY359881, CN281643
    Consensus CDS
    CCDS58321.1
    UniProtKB/Swiss-Prot
    B4DZB6, E7EWM8, J3KQH9, O60328, Q6NYC6, Q6UV20, Q9BVV6
    UniProtKB/TrEMBL
    A0A494C0M8
    Related
    ENSP00000478083.1, ENST00000619416.4
    Conserved Domains (1) summary
    pfam15324
    Location:100 → 1342
    TALPID3; Hedgehog signalling target

  3. NM_001244191.2 → NP_001231120.1  protein TALPID3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate segment in the 5' coding region, uses a downstream start codon, and lacks several alternate in-frame exons, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AI378482, AK302635, AK302836, AL135752, AL139021, AY359881, CN281643
    Consensus CDS
    CCDS73639.1
    UniProtKB/TrEMBL
    A0A087WYM5, B4DYW5
    Related
    ENSP00000481936.1, ENST00000619722.5
    Conserved Domains (1) summary
    pfam15324
    Location:30 → 1272
    TALPID3; Hedgehog signalling target

  4. NM_001244192.2 → NP_001231121.1  protein TALPID3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment in the 5' coding region, uses a downstream start codon, and lacks an alternate in-frame 3' exon, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AI378482, AK302836, AL135752, AL139021, AY359881, CN281643
    Consensus CDS
    CCDS58322.1
    UniProtKB/TrEMBL
    B4DYW5
    Related
    ENSP00000399427.3, ENST00000423743.7
    Conserved Domains (2) summary
    pfam13900
    Location:77 → 93
    GVQW; Putative domain of unknown function
    pfam15324
    Location:30 → 1313
    TALPID3; Hedgehog signalling target

  5. NM_001244193.2 → NP_001231122.1  protein TALPID3 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in both UTRs and contains multiple differences in the 5' and 3' coding regions, compared to variant 1. The resulting protein (isoform 6) has a shorter N-terminus and a distinct C-terminus.
    Source sequence(s)
    AI223212, AK302579, AL139021, AY359881
    UniProtKB/TrEMBL
    B7Z7W7
    Related
    ENST00000538571.6
    Conserved Domains (1) summary
    pfam15324
    Location:1 → 1217
    TALPID3; Hedgehog signalling target

  6. NM_001329943.3 → NP_001316872.1  protein TALPID3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    Consensus CDS
    CCDS91882.1
    UniProtKB/TrEMBL
    A0A494C0M8, A0A494C171
    Related
    ENSP00000498929.1, ENST00000652326.2

  7. NM_001329944.2 → NP_001316873.1  protein TALPID3 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    UniProtKB/TrEMBL
    A0A494C0M8

  8. NM_001329945.2 → NP_001316874.1  protein TALPID3 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    UniProtKB/TrEMBL
    B4DYW5

  9. NM_001329946.2 → NP_001316875.1  protein TALPID3 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    UniProtKB/TrEMBL
    A0A494C0M8

  10. NM_001329947.2 → NP_001316876.1  protein TALPID3 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    UniProtKB/TrEMBL
    A0A494C0M8

  11. NM_001364700.1 → NP_001351629.1  protein TALPID3 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    UniProtKB/TrEMBL
    B7Z7W7
    Conserved Domains (1) summary
    pfam15324
    Location:30 → 1272
    TALPID3; Hedgehog signalling target

  12. NM_001364701.2 → NP_001351630.1  protein TALPID3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    Consensus CDS
    CCDS73639.1
    UniProtKB/TrEMBL
    A0A087WYM5, B4DYW5
    Conserved Domains (1) summary
    pfam15324
    Location:30 → 1272
    TALPID3; Hedgehog signalling target

  13. NM_014749.5 → NP_055564.3  protein TALPID3 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate segment in the 5' coding region, uses a downstream start codon, and lacks several alternate in-frame exons, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1.
    Source sequence(s)
    AL042761, AL135752, AL139021, AY359881, BX097526, CN281643, CN308043, DB271535, DC348119
    Consensus CDS
    CCDS45115.1
    UniProtKB/TrEMBL
    A0A494C0M8
    Related
    ENSP00000261244.5, ENST00000261244.9
    Conserved Domains (1) summary
    pfam15324
    Location:115 → 1281
    TALPID3; Hedgehog signalling target

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    58427400..58562090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432009.1 → XP_047287965.1  protein TALPID3 isoform X13

  2. XM_024449779.2 → XP_024305547.1  protein TALPID3 isoform X1

    UniProtKB/TrEMBL
    A0A494C0M8
    Conserved Domains (1) summary
    pfam15324
    Location:115 → 1398
    TALPID3; Hedgehog signalling target

  3. XM_024449781.2 → XP_024305549.1  protein TALPID3 isoform X3

    UniProtKB/TrEMBL
    A0A494C0M8
    Conserved Domains (1) summary
    pfam15324
    Location:115 → 1398
    TALPID3; Hedgehog signalling target

  4. XM_047432000.1 → XP_047287956.1  protein TALPID3 isoform X4

  5. XM_047432003.1 → XP_047287959.1  protein TALPID3 isoform X7

  6. XM_047432006.1 → XP_047287962.1  protein TALPID3 isoform X10

  7. XM_024449780.2 → XP_024305548.1  protein TALPID3 isoform X2

    UniProtKB/TrEMBL
    A0A494C0M8
    Conserved Domains (1) summary
    pfam15324
    Location:115 → 1365
    TALPID3; Hedgehog signalling target

  8. XM_024449791.2 → XP_024305559.1  protein TALPID3 isoform X21

    UniProtKB/TrEMBL
    A0A494C0M8
    Conserved Domains (1) summary
    pfam15324
    Location:115 → 1365
    TALPID3; Hedgehog signalling target

  9. XM_047432001.1 → XP_047287957.1  protein TALPID3 isoform X5

  10. XM_047432012.1 → XP_047287968.1  protein TALPID3 isoform X16

  11. XM_047432002.1 → XP_047287958.1  protein TALPID3 isoform X6

  12. XM_047432004.1 → XP_047287960.1  protein TALPID3 isoform X8

  13. XM_047432010.1 → XP_047287966.1  protein TALPID3 isoform X14

  14. XM_047432007.1 → XP_047287963.1  protein TALPID3 isoform X11

  15. XM_047432013.1 → XP_047287969.1  protein TALPID3 isoform X17

    Related
    ENST00000650845.1

  16. XM_047432008.1 → XP_047287964.1  protein TALPID3 isoform X12

  17. XM_047432014.1 → XP_047287970.1  protein TALPID3 isoform X18

  18. XM_047432005.1 → XP_047287961.1  protein TALPID3 isoform X9

  19. XM_047432011.1 → XP_047287967.1  protein TALPID3 isoform X15

  20. XM_047432015.1 → XP_047287971.1  protein TALPID3 isoform X20

  21. XM_024449787.2 → XP_024305555.1  protein TALPID3 isoform X19

    UniProtKB/TrEMBL
    B7Z7W7
    Conserved Domains (1) summary
    pfam15324
    Location:5 → 1225
    TALPID3; Hedgehog signalling target

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    52634436..52767919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377121.1 → XP_054233096.1  protein TALPID3 isoform X6

  2. XM_054377128.1 → XP_054233103.1  protein TALPID3 isoform X13

  3. XM_054377116.1 → XP_054233091.1  protein TALPID3 isoform X1

  4. XM_054377118.1 → XP_054233093.1  protein TALPID3 isoform X3

  5. XM_054377119.1 → XP_054233094.1  protein TALPID3 isoform X4

  6. XM_054377122.1 → XP_054233097.1  protein TALPID3 isoform X7

  7. XM_054377125.1 → XP_054233100.1  protein TALPID3 isoform X10

  8. XM_054377117.1 → XP_054233092.1  protein TALPID3 isoform X2

  9. XM_054377136.1 → XP_054233111.1  protein TALPID3 isoform X21

  10. XM_054377120.1 → XP_054233095.1  protein TALPID3 isoform X5

  11. XM_054377131.1 → XP_054233106.1  protein TALPID3 isoform X16

  12. XM_054377123.1 → XP_054233098.1  protein TALPID3 isoform X8

  13. XM_054377129.1 → XP_054233104.1  protein TALPID3 isoform X14

  14. XM_054377126.1 → XP_054233101.1  protein TALPID3 isoform X11

  15. XM_054377132.1 → XP_054233107.1  protein TALPID3 isoform X17

  16. XM_054377127.1 → XP_054233102.1  protein TALPID3 isoform X12

  17. XM_054377133.1 → XP_054233108.1  protein TALPID3 isoform X18

  18. XM_054377124.1 → XP_054233099.1  protein TALPID3 isoform X9

  19. XM_054377130.1 → XP_054233105.1  protein TALPID3 isoform X15

  20. XM_054377135.1 → XP_054233110.1  protein TALPID3 isoform X20

  21. XM_054377134.1 → XP_054233109.1  protein TALPID3 isoform X19

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVV6.4 GenPept UniProtKB/Swiss-Prot:Q9BVV6

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