Seroatlas · Human Serome Atlas

KIAA0319

Dyslexia-associated protein KIAA0319

Also known as: K0319_HUMAN, NMIG

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

Protein identityUniProt · HPA

UniProt accession
Q5VV43
Gene
KIAA0319
Ensembl
ENSG00000137261
Chromosome
6
Canonical length
1072 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins, Predicted secreted proteins
Subcellular location
Vesicles
Secretome location
Secreted in brain
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

1072 residues, UniProt reviewed canonical sequence.

>Q5VV43|KIAA0319
     1  MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH TFPVVDCTAA
    61  CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL TFVLRPVQRP AQLLDYGDMM
   121  LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL EEMSEYSDDY RELEKDLLQP SGKQEPRGSA
   181  EYTDWGLLPG SEGAFNSSVG DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT
   241  TPSSGEVLEK EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST
   301  EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN EVELKAFVAP
   361  APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV GLYVFKVTVS SENAFGEGFV
   421  NVTVKPARRV NLPPVAVVSP QLQELTLPLT SALIDGSQST DDTEIVSYHW EEINGPFIEE
   481  KTSVDSPVLR LSNLDPGNYS FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT
   541  LPQNSITLNG NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK
   601  VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS DDHGIVFYHW
   661  EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG LSSTSTLTVA VKKENNSPPR
   721  ARAGGRHVLV LPNNSITLDG SRSTDDQRIV SYLWIRDGQS PAAGDVIDGS DHSVALQLTN
   781  LVEGVYTFHL RVTDSQGASD TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ
   841  LAVLLNVLDS DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF
   901  LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES NCEWSIFYVT
   961  VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN MDEQERMELR PKYGIKHRST
  1021  EHNSSLMVSE SEFDSDQDTI FSREKMERGN PKVSMNGSIR NGASFSYCSK DR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIAA0319 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.44
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 11 nTPM
  • basal ganglia: 10 nTPM
  • cerebellum: 9.6 nTPM
  • amygdala: 8.1 nTPM
  • hypothalamus: 7.3 nTPM
  • hippocampal formation: 6.9 nTPM

Single-cell type

  • ependymal cells: 277 nCPM
  • respiratory ciliated cells: 240 nCPM
  • astrocytes: 191 nCPM
  • thyrotrophs: 184 nCPM
  • brain excitatory neurons: 158 nCPM
  • other brain neurons: 154 nCPM

Immune cell

  • neutrophil: 1.6 nTPM
  • memory B-cell: 0.4 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • thalamus: 33 nTPM
  • basal ganglia: 29 nTPM
  • cerebral cortex: 28 nTPM
  • amygdala: 26 nTPM
  • hippocampal formation: 25 nTPM
  • pons: 23 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIAA0319.

Disease | AllUniProt

Conditions KIAA0319 is implicated in, by any mechanism.

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)
0.99
gnomAD pLI
0
gnomAD missense Z
0.46
DepMap mean gene effect
0.02
DepMap dependency class
none

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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KIAA0319 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 KIAA0319 as an antibody target. Whether an autoantibody or antibody against KIAA0319 could matter depends on whether native KIAA0319 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIAA0319 is annotated at the cell surface, where native KIAA0319 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KIAA0319 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KIAA0319. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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