KIAA0319L
Dyslexia-associated protein KIAA0319-like protein
Also known as: AAVR, K319L_HUMAN, KIAA1837
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IZA0
- Gene
- KIAA0319L
- Ensembl
- ENSG00000142687
- Chromosome
- 1
- Canonical length
- 1049 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoli,Golgi apparatus
OverviewNCBI Gene
Predicted to be involved in neuron migration. Predicted to act upstream of or within several processes, including flagellated sperm motility; proacrosomal vesicle fusion; and receptor-mediated endocytosis of virus by host cell. Located in Golgi apparatus; cytoplasmic vesicle; and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1049 residues, UniProt reviewed canonical sequence.
>Q8IZA0|KIAA0319L
1 MEKRLGVKPN PASWILSGYY WQTSAKWLRS LYLFYTCFCF SVLWLSTDAS ESRCQQGKTQ
61 FGVGLRSGGE NHLWLLEGTP SLQSCWAACC QDSACHVFWW LEGMCIQADC SRPQSCRAFR
121 THSSNSMLVF LKKFQTADDL GFLPEDDVPH LLGLGWNWAS WRQSPPRAAL RPAVSSSDQQ
181 SLIRKLQKRG SPSDVVTPIV TQHSKVNDSN ELGGLTTSGS AEVHKAITIS SPLTTDLTAE
241 LSGGPKNVSV QPEISEGLAT TPSTQQVKSS EKTQIAVPQP VAPSYSYATP TPQASFQSTS
301 APYPVIKELV VSAGESVQIT LPKNEVQLNA YVLQEPPKGE TYTYDWQLIT HPRDYSGEME
361 GKHSQILKLS KLTPGLYEFK VIVEGQNAHG EGYVNVTVKP EPRKNRPPIA IVSPQFQEIS
421 LPTTSTVIDG SQSTDDDKIV QYHWEELKGP LREEKISEDT AILKLSKLVP GNYTFSLTVV
481 DSDGATNSTT ANLTVNKAVD YPPVANAGPN QVITLPQNSI TLFGNQSTDD HGITSYEWSL
541 SPSSKGKVVE MQGVRTPTLQ LSAMQEGDYT YQLTVTDTIG QQATAQVTVI VQPENNKPPQ
601 ADAGPDKELT LPVDSTTLDG SKSSDDQKII SYLWEKTQGP DGVQLENANS SVATVTGLQV
661 GTYVFTLTVK DERNLQSQSS VNVIVKEEIN KPPIAKITGN VVITLPTSTA ELDGSKSSDD
721 KGIVSYLWTR DEGSPAAGEV LNHSDHHPIL FLSNLVEGTY TFHLKVTDAK GESDTDRTTV
781 EVKPDPRKNN LVEIILDINV SQLTERLKGM FIRQIGVLLG VLDSDIIVQK IQPYTEQSTK
841 MVFFVQNEPP HQIFKGHEVA AMLKSELRKQ KADFLIFRAL EVNTVTCQLN CSDHGHCDSF
901 TKRCICDPFW MENFIKVQLR DGDSNCEWSV LYVIIATFVI VVALGILSWT VICCCKRQKG
961 KPKRKSKYKI LDATDQESLE LKPTSRAGIK QKGLLLSSSL MHSESELDSD DAIFTWPDRE
1021 KGKLLHGQNG SVPNGQTPLK ARSPREEILLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KIAA0319L 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
- 2
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 33 nTPM
- heart muscle: 33 nTPM
- parathyroid gland: 32 nTPM
- pancreas: 31 nTPM
- tongue: 31 nTPM
- liver: 28 nTPM
Single-cell type
- cardiomyocytes: 299 nCPM
- myonuclei: 267 nCPM
- retinal bipolar cells: 242 nCPM
- epicardial cells: 241 nCPM
- neutrophils: 240 nCPM
- adrenal cortex cells: 237 nCPM
Immune cell
- neutrophil: 14 nTPM
- classical monocyte: 6.5 nTPM
- eosinophil: 4.7 nTPM
- NK-cell: 4.6 nTPM
- basophil: 4 nTPM
- myeloid DC: 3.6 nTPM
Brain region
- thalamus: 41 nTPM
- midbrain: 34 nTPM
- amygdala: 32 nTPM
- medulla oblongata: 30 nTPM
- hypothalamus: 30 nTPM
- cerebral cortex: 29 nTPM
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)
- 0.45
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.56
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- flagellated sperm motility
- neuron migration
- proacrosomal vesicle fusion
- receptor-mediated endocytosis of virus by host cell
- response to auditory stimulus
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KIAA0319L 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 KIAA0319L as an antibody target. Whether an autoantibody or antibody against KIAA0319L could matter depends on whether native KIAA0319L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KIAA0319L is annotated at the cell surface, where native KIAA0319L 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 KIAA0319L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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