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KIAA0586 KIAA0586 [ Homo sapiens (human) ]

Gene ID: 9786, updated on 4-Jul-2021

Summary

Official Symbol
KIAA0586provided by HGNC
Official Full Name
KIAA0586provided by HGNC
Primary source
HGNC:HGNC:19960
See related
Ensembl:ENSG00000100578 MIM:610178
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
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Genomic context

See KIAA0586 in Genome Data Viewer
Location:
14q23.1
Exon count:
39
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (58427400..58551297)
105.20201022 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 translocase of outer mitochondrial membrane 20 like Neighboring gene translocase of inner mitochondrial membrane 9 Neighboring gene heat shock factor binding protein 1 pseudogene 1 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 1 Neighboring gene ribosomal protein L9 pseudogene 5 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44167

Gene Ontology Provided by GOA

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
PubMed 
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
PubMed 
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
PubMed 
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/Swiss-Prot
    Q9BVV6
    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
    Q9BVV6
    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/Swiss-Prot
    Q9BVV6
    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/Swiss-Prot
    Q9BVV6
    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/Swiss-Prot
    Q9BVV6
    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
    Related
    ENSP00000498929.1, ENST00000652326.2
  7. NM_001329944.2NP_001316873.1  protein TALPID3 isoform 8

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    Conserved Domains (1) summary
    pfam15324
    Location:301272
    TALPID3; Hedgehog signalling target
  12. NM_001364701.2NP_001351630.1  protein TALPID3 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL135752, AL139021
    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/Swiss-Prot
    Q9BVV6
    Related
    ENSP00000261244.5, ENST00000261244.9
    Conserved Domains (1) summary
    pfam15324
    Location:1151281
    TALPID3; Hedgehog signalling target

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    58427400..58551297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449784.1XP_024305552.1  protein TALPID3 isoform X4

    Conserved Domains (1) summary
    pfam15324
    Location:301280
    TALPID3; Hedgehog signalling target
  2. XM_024449779.1XP_024305547.1  protein TALPID3 isoform X1

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

    Related
    ENSP00000498606.1, ENST00000650904.1
    Conserved Domains (1) summary
    pfam15324
    Location:1151398
    TALPID3; Hedgehog signalling target
  4. XM_024449780.1XP_024305548.1  protein TALPID3 isoform X2

    Conserved Domains (1) summary
    pfam15324
    Location:1151365
    TALPID3; Hedgehog signalling target
  5. XM_024449791.1XP_024305559.1  protein TALPID3 isoform X10

    Conserved Domains (1) summary
    pfam15324
    Location:1151365
    TALPID3; Hedgehog signalling target
  6. XM_024449783.1XP_024305551.1  protein TALPID3 isoform X4

    Conserved Domains (1) summary
    pfam15324
    Location:301280
    TALPID3; Hedgehog signalling target
  7. XM_024449785.1XP_024305553.1  protein TALPID3 isoform X5

    Conserved Domains (1) summary
    pfam15324
    Location:301272
    TALPID3; Hedgehog signalling target
  8. XM_024449782.1XP_024305550.1  protein TALPID3 isoform X4

    Conserved Domains (1) summary
    pfam15324
    Location:301280
    TALPID3; Hedgehog signalling target
  9. XM_024449787.1XP_024305555.1  protein TALPID3 isoform X7

    Conserved Domains (1) summary
    pfam15324
    Location:51225
    TALPID3; Hedgehog signalling target
  10. XM_024449788.1XP_024305556.1  protein TALPID3 isoform X8

    Conserved Domains (1) summary
    pfam15324
    Location:11217
    TALPID3; Hedgehog signalling target
  11. XM_024449789.1XP_024305557.1  protein TALPID3 isoform X8

    Conserved Domains (1) summary
    pfam15324
    Location:11217
    TALPID3; Hedgehog signalling target
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