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    KIAA0586 KIAA0586 [ Homo sapiens (human) ]

    Gene ID: 9786, updated on 28-Oct-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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