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Q5VV43

- K0319_HUMAN

UniProt

Q5VV43 - K0319_HUMAN

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Protein

Dyslexia-associated protein KIAA0319

Gene

KIAA0319

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. negative regulation of dendrite development Source: UniProtKB
  2. neuron migration Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Neurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Dyslexia-associated protein KIAA0319
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21580. KIAA0319.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein
Note: Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.

GO - Cellular componenti

  1. early endosome Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Dyslexia 2 (DYX2) [MIM:600202]: A 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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi995 – 9951Y → A: Loss of interaction with AP2M1 and impaired endocytosis. 1 Publication

Organism-specific databases

MIMi600202. phenotype.
PharmGKBiPA134936721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 10721052Dyslexia-associated protein KIAA0319PRO_0000042946Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi219 – 2191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi262 – 2621N-linked (GlcNAc...)Sequence Analysis
Glycosylationi394 – 3941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi421 – 4211N-linked (GlcNAc...)Sequence Analysis
Glycosylationi498 – 4981N-linked (GlcNAc...)Sequence Analysis
Glycosylationi513 – 5131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi536 – 5361N-linked (GlcNAc...)Sequence Analysis
Glycosylationi551 – 5511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi733 – 7331N-linked (GlcNAc...)Sequence Analysis

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.
PRIDEiQ5VV43.

PTM databases

PhosphoSiteiQ5VV43.

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

BgeeiQ5VV43.
CleanExiHS_KIAA0319.
GenevestigatoriQ5VV43.

Organism-specific databases

HPAiHPA015607.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115190. 2 interactions.
IntActiQ5VV43. 3 interactions.
STRINGi9606.ENSP00000367459.

Structurei

Secondary structure

1
1072
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi336 – 3383
Beta strandi343 – 3464
Beta strandi352 – 3554
Beta strandi357 – 3604
Beta strandi374 – 3763
Beta strandi389 – 3957
Beta strandi400 – 4056
Beta strandi408 – 4114
Beta strandi414 – 4174
Beta strandi420 – 4256

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E7MNMR-A329-428[»]
ProteinModelPortaliQ5VV43.
SMRiQ5VV43. Positions 324-428, 443-521, 531-621, 627-811.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5VV43.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 955935ExtracellularSequence AnalysisAdd
BLAST
Topological domaini977 – 107296CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei956 – 97621HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini21 – 9979MANSCPROSITE-ProRule annotationAdd
BLAST
Domaini341 – 42787PKD 1PROSITE-ProRule annotationAdd
BLAST
Domaini435 – 52490PKD 2PROSITE-ProRule annotationAdd
BLAST
Domaini530 – 62091PKD 3PROSITE-ProRule annotationAdd
BLAST
Domaini621 – 71494PKD 4PROSITE-ProRule annotationAdd
BLAST
Domaini720 – 81192PKD 5PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi995 – 9984Endocytosis signal

Sequence similaritiesi

Contains 1 MANSC domain.PROSITE-ProRule annotation
Contains 5 PKD domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00740000115558.
HOGENOMiHOG000043880.
HOVERGENiHBG057130.
InParanoidiQ5VV43.
OMAiNYEWSLI.
OrthoDBiEOG79PJNJ.
PhylomeDBiQ5VV43.
TreeFamiTF323356.

Family and domain databases

Gene3Di2.60.40.670. 3 hits.
InterProiIPR003961. Fibronectin_type3.
IPR013980. MANSC.
IPR011106. MANSC_N.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR000601. PKD_dom.
[Graphical view]
PfamiPF02010. REJ. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00765. MANEC. 1 hit.
SM00089. PKD. 5 hits.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 4 hits.
PROSITEiPS50986. MANSC. 1 hit.
PS50093. PKD. 1 hit.
[Graphical view]

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. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q5VV43) [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 BAA20777.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti97 – 971R → S in BAG58068. (PubMed:14702039)Curated
Sequence conflicti157 – 1571S → A in BAA20777. (PubMed:9205841)Curated
Sequence conflicti157 – 1571S → A in AAI52461. (PubMed:15489334)Curated
Sequence conflicti256 – 2561L → H in BAG59087. (PubMed:14702039)Curated
Sequence conflicti926 – 9261L → I in AAI44629. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti142 – 1421T → P.3 Publications
Corresponds to variant rs4576240 [ dbSNP | Ensembl ].
VAR_023837
Natural varianti311 – 3111A → T May be associated with susceptibility to dyslexia. 3 Publications
Corresponds to variant rs4504469 [ dbSNP | Ensembl ].
VAR_023838
Natural varianti567 – 5671G → S.
Corresponds to variant rs2744559 [ dbSNP | Ensembl ].
VAR_049505
Natural varianti773 – 7731S → G.
Corresponds to variant rs2744550 [ dbSNP | Ensembl ].
VAR_049506
Natural varianti774 – 7741V → A.
Corresponds to variant rs2817191 [ dbSNP | Ensembl ].
VAR_049507
Natural varianti919 – 9191G → A.
Corresponds to variant rs10946705 [ dbSNP | Ensembl ].
VAR_034032
Natural varianti1013 – 10131Y → C.
Corresponds to variant rs807534 [ dbSNP | Ensembl ].
VAR_049508

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4545Missing in isoform 3. 1 PublicationVSP_036234Add
BLAST
Alternative sequencei1 – 1919MAPPT…VTIAG → MTRLGWPSPC in isoform 2. 2 PublicationsVSP_036235Add
BLAST
Alternative sequencei953 – 101361Missing in isoform 4. CuratedVSP_044971Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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, AL031230 Genomic DNA. Translation: CAH71730.1.
AL031230, AL512385 Genomic DNA. Translation: CAI22601.1.
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]
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.1. human. [Q5VV43-1]
uc011djq.1. human. [Q5VV43-2]

Polymorphism databases

DMDMi74747200.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

The twisted way of things - Issue 125 of January 2011

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 , AL031230 Genomic DNA. Translation: CAH71730.1 .
AL031230 , AL512385 Genomic DNA. Translation: CAI22601.1 .
BC140821 mRNA. Translation: AAI40822.1 .
BC144628 mRNA. Translation: AAI44629.1 .
BC152460 mRNA. Translation: AAI52461.1 .
CCDSi CCDS34348.1. [Q5VV43-1 ]
CCDS54969.1. [Q5VV43-3 ]
CCDS54970.1. [Q5VV43-2 ]
CCDS54971.1. [Q5VV43-4 ]
RefSeqi NP_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 ]
UniGenei Hs.26441.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2E7M NMR - A 329-428 [» ]
ProteinModelPortali Q5VV43.
SMRi Q5VV43. Positions 324-428, 443-521, 531-621, 627-811.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115190. 2 interactions.
IntActi Q5VV43. 3 interactions.
STRINGi 9606.ENSP00000367459.

PTM databases

PhosphoSitei Q5VV43.

Polymorphism databases

DMDMi 74747200.

Proteomic databases

MaxQBi Q5VV43.
PaxDbi Q5VV43.
PRIDEi Q5VV43.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378214 ; ENSP00000367459 ; ENSG00000137261 . [Q5VV43-1 ]
ENST00000430948 ; ENSP00000401086 ; ENSG00000137261 . [Q5VV43-3 ]
ENST00000535378 ; ENSP00000442403 ; ENSG00000137261 . [Q5VV43-2 ]
ENST00000537886 ; ENSP00000439700 ; ENSG00000137261 . [Q5VV43-4 ]
ENST00000543707 ; ENSP00000437656 ; ENSG00000137261 . [Q5VV43-1 ]
GeneIDi 9856.
KEGGi hsa:9856.
UCSCi uc003neh.1. human. [Q5VV43-1 ]
uc011djq.1. human. [Q5VV43-2 ]

Organism-specific databases

CTDi 9856.
GeneCardsi GC06M024544.
HGNCi HGNC:21580. KIAA0319.
HPAi HPA015607.
MIMi 600202. phenotype.
609269. gene.
neXtProti NX_Q5VV43.
PharmGKBi PA134936721.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00740000115558.
HOGENOMi HOG000043880.
HOVERGENi HBG057130.
InParanoidi Q5VV43.
OMAi NYEWSLI.
OrthoDBi EOG79PJNJ.
PhylomeDBi Q5VV43.
TreeFami TF323356.

Miscellaneous databases

ChiTaRSi KIAA0319. human.
EvolutionaryTracei Q5VV43.
GeneWikii KIAA0319.
GenomeRNAii 9856.
NextBioi 37146.
SOURCEi Search...

Gene expression databases

Bgeei Q5VV43.
CleanExi HS_KIAA0319.
Genevestigatori Q5VV43.

Family and domain databases

Gene3Di 2.60.40.670. 3 hits.
InterProi IPR003961. Fibronectin_type3.
IPR013980. MANSC.
IPR011106. MANSC_N.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR000601. PKD_dom.
[Graphical view ]
Pfami PF02010. REJ. 1 hit.
[Graphical view ]
SMARTi SM00060. FN3. 4 hits.
SM00765. MANEC. 1 hit.
SM00089. PKD. 5 hits.
[Graphical view ]
SUPFAMi SSF49299. SSF49299. 4 hits.
PROSITEi PS50986. MANSC. 1 hit.
PS50093. PKD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-142.
    Tissue: Brain.
  2. Ohara O., Nagase T., Kikuno R., Nomura N.
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANTS PRO-142 AND THR-311.
    Tissue: Brain and Thalamus.
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS PRO-142 AND THR-311.
    Tissue: Brain.
  6. "A transcription map of the 6p22.3 reading disability locus identifying candidate genes."
    Londin E.R., Meng H., Gruen J.R.
    BMC Genomics 4:25-25(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration."
    Paracchini S., Thomas A., Castro S., Lai C., Paramasivam M., Wang Y., Keating B.J., Taylor J.M., Hacking D.F., Scerri T., Francks C., Richardson A.J., Wade-Martins R., Stein J.F., Knight J.C., Copp A.J., Loturco J., Monaco A.P.
    Hum. Mol. Genet. 15:1659-1666(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN DYX2, DEVELOPMENTAL STAGE.
  8. "Alternative splicing in the dyslexia-associated gene KIAA0319."
    Velayos-Baeza A., Toma C., da Roza S., Paracchini S., Monaco A.P.
    Mamm. Genome 18:627-634(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
  9. "The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms."
    Velayos-Baeza A., Toma C., Paracchini S., Monaco A.P.
    Hum. Mol. Genet. 17:859-871(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, SUBUNIT.
  10. "The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway."
    Levecque C., Velayos-Baeza A., Holloway Z.G., Monaco A.P.
    Am. J. Physiol. 297:C160-C168(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF TYR-995, ENDOCYTOSIS SIGNAL, INTERACTION WITH AP2M1.
  11. "The effect of variation in expression of the candidate dyslexia susceptibility gene homolog Kiaa0319 on neuronal migration and dendritic morphology in the rat."
    Peschansky V.J., Burbridge T.J., Volz A.J., Fiondella C., Wissner-Gross Z., Galaburda A.M., Lo Turco J.J., Rosen G.D.
    Cereb. Cortex 20:884-897(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage."
    Velayos-Baeza A., Levecque C., Kobayashi K., Holloway Z.G., Monaco A.P.
    J. Biol. Chem. 285:40148-40162(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING.
  13. "Solution structure of the PKD domain (329-428) from human KIAA0319."
    RIKEN structural genomics initiative (RSGI)
    Submitted (JUL-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 324-428.
  14. "Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia."
    Cope N., Harold D., Hill G., Moskvina V., Stevenson J., Holmans P., Owen M.J., O'Donovan M.C., Williams J.
    Am. J. Hum. Genet. 76:581-591(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-311.

Entry informationi

Entry nameiK0319_HUMAN
AccessioniPrimary (citable) accession number: Q5VV43
Secondary accession number(s): A7MD37
, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q9UJC8, Q9Y4G7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: December 7, 2004
Last modified: October 29, 2014
This is version 105 of the entry and version 1 of the sequence. [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
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3