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UniProtKB - Q5VV43 (K0319_HUMAN)

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Protein

Dyslexia-associated protein KIAA0319

Gene

KIAA0319

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.1 Publication

GO - Biological processi

  • membrane organization Source: Reactome
  • negative regulation of dendrite development Source: UniProtKB
  • neuron migration Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein
Biological processNeurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
Dyslexia-associated protein KIAA0319
Gene namesi
Name:KIAA0319
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000137261.13
HGNCiHGNC:21580 KIAA0319
MIMi609269 gene
neXtProtiNX_Q5VV43

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 955ExtracellularSequence analysisAdd BLAST935
Transmembranei956 – 976HelicalSequence analysisAdd BLAST21
Topological domaini977 – 1072CytoplasmicSequence analysisAdd BLAST96

Keywords - Cellular componenti

Cell membrane, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Dyslexia 2 (DYX2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
See also OMIM:600202

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi995Y → A: Loss of interaction with AP2M1 and impaired endocytosis. 1 Publication1

Organism-specific databases

DisGeNETi9856
MalaCardsiKIAA0319
MIMi600202 phenotype
OpenTargetsiENSG00000137261
PharmGKBiPA134936721

Polymorphism and mutation databases

BioMutaiKIAA0319
DMDMi74747200

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000004294621 – 1072Dyslexia-associated protein KIAA0319Add BLAST1052

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi196N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi219N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi262N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi394N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi421N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi513N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi536N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi551N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi733N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication
O-glycosylated.1 Publication
Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ5VV43
PaxDbiQ5VV43
PeptideAtlasiQ5VV43
PRIDEiQ5VV43
ProteomicsDBi65441
65442 [Q5VV43-2]
65443 [Q5VV43-3]

PTM databases

iPTMnetiQ5VV43
PhosphoSitePlusiQ5VV43

Expressioni

Tissue specificityi

Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.2 Publications

Developmental stagei

Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000137261
CleanExiHS_KIAA0319
ExpressionAtlasiQ5VV43 baseline and differential
GenevisibleiQ5VV43 HS

Organism-specific databases

HPAiHPA015607
HPA076313

Interactioni

Subunit structurei

Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis.2 Publications

Protein-protein interaction databases

BioGridi115190, 2 interactors
IntActiQ5VV43, 3 interactors
STRINGi9606.ENSP00000367459

Structurei

Secondary structure

11072
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi336 – 338Combined sources3
Beta strandi343 – 346Combined sources4
Beta strandi352 – 355Combined sources4
Beta strandi357 – 360Combined sources4
Beta strandi374 – 376Combined sources3
Beta strandi389 – 395Combined sources7
Beta strandi400 – 405Combined sources6
Beta strandi408 – 411Combined sources4
Beta strandi414 – 417Combined sources4
Beta strandi420 – 425Combined sources6

3D structure databases

ProteinModelPortaliQ5VV43
SMRiQ5VV43
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5VV43

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini21 – 99MANSCPROSITE-ProRule annotationAdd BLAST79
Domaini341 – 427PKD 1PROSITE-ProRule annotationAdd BLAST87
Domaini435 – 524PKD 2PROSITE-ProRule annotationAdd BLAST90
Domaini530 – 620PKD 3PROSITE-ProRule annotationAdd BLAST91
Domaini621 – 714PKD 4PROSITE-ProRule annotationAdd BLAST94
Domaini720 – 811PKD 5PROSITE-ProRule annotationAdd BLAST92

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi995 – 998Endocytosis signal4

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFQB Eukaryota
ENOG410XQ5Y LUCA
GeneTreeiENSGT00880000137941
HOGENOMiHOG000043880
HOVERGENiHBG057130
InParanoidiQ5VV43
OMAiSYHWEEI
OrthoDBiEOG091G016C
PhylomeDBiQ5VV43
TreeFamiTF323356

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR013783 Ig-like_fold
IPR013980 MANSC_dom
IPR011106 MANSC_N
IPR022409 PKD/Chitinase_dom
IPR002859 PKD/REJ-like
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
PfamiView protein in Pfam
PF02010 REJ, 1 hit
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00765 MANEC, 1 hit
SM00089 PKD, 5 hits
SUPFAMiSSF49299 SSF49299, 4 hits
PROSITEiView protein in PROSITE
PS50986 MANSC, 1 hit
PS50093 PKD, 1 hit

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q5VV43-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH 
        60         70         80         90        100
TFPVVDCTAA CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL 
       110        120        130        140        150
TFVLRPVQRP AQLLDYGDMM LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL 
       160        170        180        190        200
EEMSEYSDDY RELEKDLLQP SGKQEPRGSA EYTDWGLLPG SEGAFNSSVG 
       210        220        230        240        250
DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT TPSSGEVLEK 
       260        270        280        290        300
EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST 
       310        320        330        340        350
EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN 
       360        370        380        390        400
EVELKAFVAP APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV 
       410        420        430        440        450
GLYVFKVTVS SENAFGEGFV NVTVKPARRV NLPPVAVVSP QLQELTLPLT 
       460        470        480        490        500
SALIDGSQST DDTEIVSYHW EEINGPFIEE KTSVDSPVLR LSNLDPGNYS 
       510        520        530        540        550
FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT LPQNSITLNG 
       560        570        580        590        600
NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK 
       610        620        630        640        650
VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS 
       660        670        680        690        700
DDHGIVFYHW EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG 
       710        720        730        740        750
LSSTSTLTVA VKKENNSPPR ARAGGRHVLV LPNNSITLDG SRSTDDQRIV 
       760        770        780        790        800
SYLWIRDGQS PAAGDVIDGS DHSVALQLTN LVEGVYTFHL RVTDSQGASD 
       810        820        830        840        850
TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ LAVLLNVLDS 
       860        870        880        890        900
DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF 
       910        920        930        940        950
LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES 
       960        970        980        990       1000
NCEWSIFYVT VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN 
      1010       1020       1030       1040       1050
MDEQERMELR PKYGIKHRST EHNSSLMVSE SEFDSDQDTI FSREKMERGN 
      1060       1070 
PKVSMNGSIR NGASFSYCSK DR
Length:1,072
Mass (Da):117,763
Last modified:December 7, 2004 - v1
Checksum:i94F33B03E7FE8C0F
GO
Isoform 2 (identifier: Q5VV43-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MAPPTGVLSSLLLLVTIAG → MTRLGWPSPC

Show »
Length:1,063
Mass (Da):117,057
Checksum:i144EC867C3FD7CD5
GO
Isoform 3 (identifier: Q5VV43-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.

Show »
Length:1,027
Mass (Da):113,047
Checksum:i27D81BD05C976D80
GO
Isoform 4 (identifier: Q5VV43-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     953-1013: Missing.

Note: No experimental confirmation available.
Show »
Length:1,011
Mass (Da):110,370
Checksum:i6B875CD6ED56D253
GO

Sequence cautioni

The sequence BAA20777 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti97R → S in BAG58068 (PubMed:14702039).Curated1
Sequence conflicti157S → A in BAA20777 (PubMed:9205841).Curated1
Sequence conflicti157S → A in AAI52461 (PubMed:15489334).Curated1
Sequence conflicti256L → H in BAG59087 (PubMed:14702039).Curated1
Sequence conflicti926L → I in AAI44629 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023837142T → P3 PublicationsCorresponds to variant dbSNP:rs4576240Ensembl.1
Natural variantiVAR_023838311A → T May be associated with susceptibility to dyslexia. 3 PublicationsCorresponds to variant dbSNP:rs4504469Ensembl.1
Natural variantiVAR_049505567G → S. Corresponds to variant dbSNP:rs2744559Ensembl.1
Natural variantiVAR_049506773S → G. Corresponds to variant dbSNP:rs2744550Ensembl.1
Natural variantiVAR_049507774V → A. Corresponds to variant dbSNP:rs2817191Ensembl.1
Natural variantiVAR_034032919G → A. Corresponds to variant dbSNP:rs10946705Ensembl.1
Natural variantiVAR_0495081013Y → C. Corresponds to variant dbSNP:rs807534Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0362341 – 45Missing in isoform 3. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_0362351 – 19MAPPT…VTIAG → MTRLGWPSPC in isoform 2. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_044971953 – 1013Missing in isoform 4. CuratedAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002317 mRNA Translation: BAA20777.2 Different initiation.
AK295008 mRNA Translation: BAG58068.1
AK296310 mRNA Translation: BAG59008.1
AK296426 mRNA Translation: BAG59087.1
AL512385 Genomic DNA No translation available.
AL031230 Genomic DNA No translation available.
BC140821 mRNA Translation: AAI40822.1
BC144628 mRNA Translation: AAI44629.1
BC152460 mRNA Translation: AAI52461.1
CCDSiCCDS34348.1 [Q5VV43-1]
CCDS54969.1 [Q5VV43-3]
CCDS54970.1 [Q5VV43-2]
CCDS54971.1 [Q5VV43-4]
RefSeqiNP_001161846.1, NM_001168374.1 [Q5VV43-2]
NP_001161847.1, NM_001168375.1 [Q5VV43-1]
NP_001161848.1, NM_001168376.1 [Q5VV43-3]
NP_001161849.1, NM_001168377.1 [Q5VV43-4]
NP_055624.2, NM_014809.3 [Q5VV43-1]
XP_011513327.1, XM_011515025.2
XP_011513328.1, XM_011515026.2 [Q5VV43-3]
XP_016867030.1, XM_017011541.1 [Q5VV43-2]
XP_016867034.1, XM_017011545.1 [Q5VV43-3]
UniGeneiHs.26441

Genome annotation databases

EnsembliENST00000378214; ENSP00000367459; ENSG00000137261 [Q5VV43-1]
ENST00000430948; ENSP00000401086; ENSG00000137261 [Q5VV43-3]
ENST00000535378; ENSP00000442403; ENSG00000137261 [Q5VV43-2]
ENST00000537886; ENSP00000439700; ENSG00000137261 [Q5VV43-4]
ENST00000543707; ENSP00000437656; ENSG00000137261 [Q5VV43-1]
GeneIDi9856
KEGGihsa:9856
UCSCiuc003neh.2 human [Q5VV43-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiK0319_HUMAN
AccessioniPrimary (citable) accession number: Q5VV43
Secondary accession number(s): A7MD37
, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q9UJC8, Q9Y4G7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: December 7, 2004
Last modified: June 20, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

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