Seroatlas · Human Serome Atlas

KIAA0586

Protein TALPID3

Also known as: JBTS23, TALD3_HUMAN, Talpid3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BVV6
Gene: KIAA0586
Ensembl: ENSG00000100578
Chromosome: 14
Canonical length: 1533 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1533 residues, UniProt reviewed canonical sequence.

>Q9BVV6|KIAA0586
     1  MPVKRLREVV SQNHGDHLVL LKDELPCVPP ALSANKRLPV GTGTSLNGTS RGSSDLTSAR
    61  NCYQPLLENP MVSESDFSKD VAVQVLPLDK IEENNKQKAN DIFISQYTMG QKDALRTVLK
   121  QKAQSMPVFK EVKVHLLEDA GIEKDAVTQE TRISPSGIDS ATTVAAATAA AIATAAPLIK
   181  VQSDLEAKVN SVTELLSKLQ ETDKHLQRVT EQQTSIQRKQ EKLHCHDHEK QMNVFMEQHI
   241  RHLEKLQQQQ IDIQTHFISA ALKTSSFQPV SMPSSRAVEK YSVKPEHPNL GSCNPSLYNT
   301  FASKQAPLKE VEDTSFDKQK SPLETPAPRR FAPVPVSRDD ELSKRENLLE EKENMEVSCH
   361  RGNVRLLEQI LNNNDSLTRK SESSNTTSLT RSKIGWTPEK TNRFPSCEEL ETTKVTMQKS
   421  DDVLHDLGQK EKETNSMVQP KESLSMLKLP DLPQNSVKLQ TTNTTRSVLK DAEKILRGVQ
   481  NNKKVLEENL EAIIRAKDGA AMYSLINALS TNREMSEKIR IRKTVDEWIK TISAEIQDEL
   541  SRTDYEQKRF DQKNQRTKKG QNMTKDIRTN TQDKTVNKSV IPRKHSQKQI EEHFRNLPMR
   601  GMPASSLQKE RKEGLLKATT VIQDEDYMLQ VYGKPVYQGH RSTLKKGPYL RFNSPSPKSR
   661  PQRPKVIERV KGTKVKSIRT QTDFYATKPK KMDSKMKHSV PVLPHGDQQY LFSPSREMPT
   721  FSGTLEGHLI PMAILLGQTQ SNSDTMPPAG VIVSKPHPVT VTTSIPPSSR KVETGVKKPN
   781  IAIVEMKSEK KDPPQLTVQV LPSVDIDSIS NSSADVLSPL SSPKEASLPP VQTWIKTPEI
   841  MKVDEEEVKF PGTNFDEIID VIQEEEKCDE IPDSEPILEF NRSVKADSTK YNGPPFPPVA
   901  STFQPTADIL DKVIERKETL ENSLIQWVEQ EIMSRIISGL FPVQQQIAPS ISVSVSETSE
   961  PLTSDIVEGT SSGALQLFVD AGVPVNSNVI KHFVNEALAE TIAVMLGDRE AKKQGPVATG
  1021  VSGDASTNET YLPARVCTPL PTPQPTPPCS PSSPAKECVL VKTPDSSPCD SDHDMAFPVK
  1081  EICAEKGDDM PAIMLVNTPT VTPTTTPPPA AAVFTPTLSD ISIDKLKVSS PELPKPWGDG
  1141  DLPLEEENPN SPQEELHPRA IVMSVAKDEE PESMDFPAQP PPPEPVPFMP FPAGTKAPSP
  1201  SQMPGSDSST LESTLSVTVT ETETLDKPIS EGEILFSCGQ KLAPKILEDI GLYLTNLNDS
  1261  LSSTLHDAVE MEDDPPSEGQ VIRMSHKKFH ADAILSFAKQ NQESAVSQQA VYHSEDLENS
  1321  VGELSEGQRP QLTAAAENIL MGHSLYMQPP VTNTQSLDQQ CDPKPLSRQF DTVSGSIYED
  1381  SCASHGPMSL GELELEPNSK LVLPTTLLTA QENDVNLPVA AEDFSQYQLK QNQDVKQVEH
  1441  KPSQSYLRVR NKSDIAPSQQ QVSPGDMDRT QIELNPYLTC VFSGGKAVPL SASQMPPAKM
  1501  SVMLPSVNLE DCSQSLSLST MQEDMESSGA DTF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIAA0586 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.65
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

testis: 16 nTPM
thymus: 12 nTPM
retina: 7.4 nTPM
pituitary gland: 7.1 nTPM
lymph node: 7 nTPM
cerebellum: 6.7 nTPM

Single-cell type

early spermatids: 203 nCPM
late spermatids: 191 nCPM
thyrotrophs: 148 nCPM
cone photoreceptor cells: 143 nCPM
late primary spermatocytes: 142 nCPM
corticotrophs: 136 nCPM

Immune cell

basophil: 13 nTPM
NK-cell: 9.7 nTPM
naive CD4 T-cell: 8.6 nTPM
gdT-cell: 7.1 nTPM
T-reg: 7.1 nTPM
naive B-cell: 7 nTPM

Brain region

white matter: 11 nTPM
cerebellum: 10 nTPM
midbrain: 8.7 nTPM
cerebral cortex: 8.3 nTPM
medulla oblongata: 8.3 nTPM
pons: 8.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIAA0586.

Disease | AllUniProt

Conditions KIAA0586 is implicated in, by any mechanism.

Joubert syndrome 23 (JBTS23) MIM:616490
Short-rib thoracic dysplasia 14 with polydactyly (SRTD14) MIM:616546

Disease | GeneticClinVar

158 pathogenic / likely-pathogenic of 1,633 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
Joubert syndrome and related disorders
KIAA0586-related disorder
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.72
gnomAD pLI: 0
gnomAD missense Z: 0.37
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein TALPID3
Hedgehog signalling target

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KIAA0586 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KIAA0586 as an antibody target. Whether an autoantibody or antibody against KIAA0586 could matter depends on whether native KIAA0586 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIAA0586 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KIAA0586 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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