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    KIAA0586 KIAA0586 [ Homo sapiens (human) ]

    Gene ID: 9786, updated on 1-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIAA0586 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (58427400..58562090)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (52634436..52767919)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001244189.2NP_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:174190
      GVQW; Putative domain of unknown function
      pfam15324
      Location:1271410
      TALPID3; Hedgehog signalling target
    2. NM_001244190.2NP_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:1001342
      TALPID3; Hedgehog signalling target
    3. NM_001244191.2NP_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:301272
      TALPID3; Hedgehog signalling target
    4. NM_001244192.2NP_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:7793
      GVQW; Putative domain of unknown function
      pfam15324
      Location:301313
      TALPID3; Hedgehog signalling target
    5. NM_001244193.2NP_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:11217
      TALPID3; Hedgehog signalling target
    6. NM_001329943.3NP_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_001329944.2NP_001316873.1  protein TALPID3 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL135752, AL139021
      UniProtKB/TrEMBL
      A0A494C0M8
    8. NM_001329945.2NP_001316874.1  protein TALPID3 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL135752, AL139021
      UniProtKB/TrEMBL
      B4DYW5
    9. NM_001329946.2NP_001316875.1  protein TALPID3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL135752, AL139021
      UniProtKB/TrEMBL
      A0A494C0M8
    10. NM_001329947.2NP_001316876.1  protein TALPID3 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL135752, AL139021
      UniProtKB/TrEMBL
      A0A494C0M8
    11. NM_001364700.1NP_001351629.1  protein TALPID3 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL135752, AL139021
      UniProtKB/TrEMBL
      B7Z7W7
      Conserved Domains (1) summary
      pfam15324
      Location:301272
      TALPID3; Hedgehog signalling target
    12. NM_001364701.2NP_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:301272
      TALPID3; Hedgehog signalling target
    13. NM_014749.5NP_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:1151281
      TALPID3; Hedgehog signalling target

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047432009.1XP_047287965.1  protein TALPID3 isoform X13

      UniProtKB/TrEMBL
      A0A494C0M8
    2. XM_024449779.2XP_024305547.1  protein TALPID3 isoform X1

      UniProtKB/TrEMBL
      A0A494C0M8
      Conserved Domains (1) summary
      pfam15324
      Location:1151398
      TALPID3; Hedgehog signalling target
    3. XM_024449781.2XP_024305549.1  protein TALPID3 isoform X3

      UniProtKB/TrEMBL
      A0A494C0M8
      Conserved Domains (1) summary
      pfam15324
      Location:1151398
      TALPID3; Hedgehog signalling target
    4. XM_047432000.1XP_047287956.1  protein TALPID3 isoform X4

      UniProtKB/TrEMBL
      A0A494C0M8
    5. XM_047432003.1XP_047287959.1  protein TALPID3 isoform X7

      UniProtKB/TrEMBL
      A0A494C0M8
    6. XM_047432006.1XP_047287962.1  protein TALPID3 isoform X10

      UniProtKB/TrEMBL
      A0A494C0M8
    7. XM_024449780.2XP_024305548.1  protein TALPID3 isoform X2

      UniProtKB/TrEMBL
      A0A494C0M8
      Conserved Domains (1) summary
      pfam15324
      Location:1151365
      TALPID3; Hedgehog signalling target
    8. XM_024449791.2XP_024305559.1  protein TALPID3 isoform X21

      UniProtKB/TrEMBL
      A0A494C0M8
      Conserved Domains (1) summary
      pfam15324
      Location:1151365
      TALPID3; Hedgehog signalling target
    9. XM_047432001.1XP_047287957.1  protein TALPID3 isoform X5

      UniProtKB/TrEMBL
      A0A494C0M8
    10. XM_047432012.1XP_047287968.1  protein TALPID3 isoform X16

      UniProtKB/TrEMBL
      A0A494C0M8
    11. XM_047432002.1XP_047287958.1  protein TALPID3 isoform X6

      UniProtKB/TrEMBL
      B4DYW5
    12. XM_047432004.1XP_047287960.1  protein TALPID3 isoform X8

      UniProtKB/TrEMBL
      A0A494C0M8
    13. XM_047432010.1XP_047287966.1  protein TALPID3 isoform X14

      UniProtKB/TrEMBL
      A0A494C0M8
    14. XM_047432007.1XP_047287963.1  protein TALPID3 isoform X11

      UniProtKB/TrEMBL
      A0A494C0M8
    15. XM_047432013.1XP_047287969.1  protein TALPID3 isoform X17

      UniProtKB/TrEMBL
      A0A494C0M8
      Related
      ENST00000650845.1
    16. XM_047432008.1XP_047287964.1  protein TALPID3 isoform X12

      UniProtKB/TrEMBL
      A0A494C0M8
    17. XM_047432014.1XP_047287970.1  protein TALPID3 isoform X18

      UniProtKB/TrEMBL
      A0A494C0M8
    18. XM_047432005.1XP_047287961.1  protein TALPID3 isoform X9

      UniProtKB/TrEMBL
      A0A494C0M8
    19. XM_047432011.1XP_047287967.1  protein TALPID3 isoform X15

      UniProtKB/TrEMBL
      A0A494C0M8
    20. XM_047432015.1XP_047287971.1  protein TALPID3 isoform X20

      UniProtKB/TrEMBL
      A0A494C0M8
    21. XM_024449787.2XP_024305555.1  protein TALPID3 isoform X19

      UniProtKB/TrEMBL
      B7Z7W7
      Conserved Domains (1) summary
      pfam15324
      Location:51225
      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_054377121.1XP_054233096.1  protein TALPID3 isoform X6

      UniProtKB/TrEMBL
      B4DYW5
    2. XM_054377128.1XP_054233103.1  protein TALPID3 isoform X13

      UniProtKB/TrEMBL
      A0A494C0M8
    3. XM_054377116.1XP_054233091.1  protein TALPID3 isoform X1

      UniProtKB/TrEMBL
      A0A494C0M8
    4. XM_054377118.1XP_054233093.1  protein TALPID3 isoform X3

      UniProtKB/TrEMBL
      A0A494C0M8
    5. XM_054377119.1XP_054233094.1  protein TALPID3 isoform X4

      UniProtKB/TrEMBL
      A0A494C0M8
    6. XM_054377122.1XP_054233097.1  protein TALPID3 isoform X7

      UniProtKB/TrEMBL
      A0A494C0M8
    7. XM_054377125.1XP_054233100.1  protein TALPID3 isoform X10

      UniProtKB/TrEMBL
      A0A494C0M8
    8. XM_054377117.1XP_054233092.1  protein TALPID3 isoform X2

      UniProtKB/TrEMBL
      A0A494C0M8
    9. XM_054377136.1XP_054233111.1  protein TALPID3 isoform X21

      UniProtKB/TrEMBL
      A0A494C0M8
    10. XM_054377120.1XP_054233095.1  protein TALPID3 isoform X5

      UniProtKB/TrEMBL
      A0A494C0M8
    11. XM_054377131.1XP_054233106.1  protein TALPID3 isoform X16

      UniProtKB/TrEMBL
      A0A494C0M8
    12. XM_054377123.1XP_054233098.1  protein TALPID3 isoform X8

      UniProtKB/TrEMBL
      A0A494C0M8
    13. XM_054377129.1XP_054233104.1  protein TALPID3 isoform X14

      UniProtKB/TrEMBL
      A0A494C0M8
    14. XM_054377126.1XP_054233101.1  protein TALPID3 isoform X11

      UniProtKB/TrEMBL
      A0A494C0M8
    15. XM_054377132.1XP_054233107.1  protein TALPID3 isoform X17

      UniProtKB/TrEMBL
      A0A494C0M8
    16. XM_054377127.1XP_054233102.1  protein TALPID3 isoform X12

      UniProtKB/TrEMBL
      A0A494C0M8
    17. XM_054377133.1XP_054233108.1  protein TALPID3 isoform X18

      UniProtKB/TrEMBL
      A0A494C0M8
    18. XM_054377124.1XP_054233099.1  protein TALPID3 isoform X9

      UniProtKB/TrEMBL
      A0A494C0M8
    19. XM_054377130.1XP_054233105.1  protein TALPID3 isoform X15

      UniProtKB/TrEMBL
      A0A494C0M8
    20. XM_054377135.1XP_054233110.1  protein TALPID3 isoform X20

      UniProtKB/TrEMBL
      A0A494C0M8
    21. XM_054377134.1XP_054233109.1  protein TALPID3 isoform X19

      UniProtKB/TrEMBL
      B7Z7W7