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Q5SZV5

- K0319_MOUSE

UniProt

Q5SZV5 - K0319_MOUSE

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Protein

Dyslexia-associated protein KIAA0319 homolog

Gene

Kiaa0319

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript 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 (By similarity).By similarity

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 homolog
Gene namesi
Name:Kiaa0319
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 13

Organism-specific databases

MGIiMGI:3036268. D130043K22Rik.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 964942ExtracellularSequence AnalysisAdd
BLAST
Transmembranei965 – 98521HelicalSequence AnalysisAdd
BLAST
Topological domaini986 – 108196CytoplasmicSequence AnalysisAdd
BLAST

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence AnalysisAdd
BLAST
Chaini23 – 10811059Dyslexia-associated protein KIAA0319 homologPRO_0000042947Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi196 – 1961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi228 – 2281N-linked (GlcNAc...)Sequence Analysis
Glycosylationi272 – 2721N-linked (GlcNAc...)Sequence Analysis
Glycosylationi302 – 3021N-linked (GlcNAc...)Sequence Analysis
Glycosylationi430 – 4301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi507 – 5071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi522 – 5221N-linked (GlcNAc...)Sequence Analysis
Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence Analysis
Glycosylationi560 – 5601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi742 – 7421N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated.By similarity
O-glycosylated.By similarity
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 (By similarity).By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ5SZV5.
PaxDbiQ5SZV5.
PRIDEiQ5SZV5.

PTM databases

PhosphoSiteiQ5SZV5.

Expressioni

Developmental stagei

Expressed in the frontal neocortex, glanglionic eminence, mesencephalon and cerebellum at E13.5. More prominently expressed in the developing cerebral neocortex and mesencephalon at E15.5 and in the cortical plate and in the remnant of the ventricular zone at E18.5.1 Publication

Gene expression databases

BgeeiQ5SZV5.
CleanExiMM_D130043K22RIK.
ExpressionAtlasiQ5SZV5. baseline and differential.
GenevestigatoriQ5SZV5.

Interactioni

Subunit structurei

Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis (By similarity).By similarity

Structurei

3D structure databases

ProteinModelPortaliQ5SZV5.
SMRiQ5SZV5. Positions 336-436, 452-532, 540-630, 636-724.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini23 – 9977MANSCPROSITE-ProRule annotationAdd
BLAST
Domaini345 – 43692PKD 1PROSITE-ProRule annotationAdd
BLAST
Domaini444 – 53390PKD 2PROSITE-ProRule annotationAdd
BLAST
Domaini539 – 62991PKD 3PROSITE-ProRule annotationAdd
BLAST
Domaini630 – 72394PKD 4PROSITE-ProRule annotationAdd
BLAST
Domaini729 – 82092PKD 5PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi1004 – 10074Endocytosis 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.
InParanoidiQ5SZV5.
OMAiNYEWSLI.
PhylomeDBiQ5SZV5.
TreeFamiTF323356.

Family and domain databases

Gene3Di2.60.40.670. 2 hits.
InterProiIPR003961. Fibronectin_type3.
IPR013980. MANSC.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR000601. PKD_dom.
[Graphical view]
PfamiPF02010. REJ. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00089. PKD. 5 hits.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 4 hits.
PROSITEiPS50986. MANSC. 1 hit.
PS50093. PKD. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q5SZV5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVSPPGVLSS LLLLAAMAGG SSQQCSEGRT YSDAIISPNP ETIRIMRVSQ
60 70 80 90 100
TFSVGDCTAA CCDLLTCDLA WWFEGSCYLV KCMRSENCEP RTTGPIRSYL
110 120 130 140 150
TFVRRPVQRP GQLLDYGDMM LSRGSPSGAW GDSLEDLRKD LPFLGKDGGP
160 170 180 190 200
EETTEYSDEY KDLERGLLQP SNQQDPRGSA EYPDWSLLPS NEGGFNATAT
210 220 230 240 250
GDNSAASMEK LQDPTPHPLD QEQLQALNES TWSPTPGHSS ISSVWPSSAS
260 270 280 290 300
PLPTEEGLEG EETLQLQEQP SNSSGKEVPM PSHNPSPASL ESSPATTEKN
310 320 330 340 350
SNFTVTPRSR KHSTPTFPTS TVLTGLTPPP WPLSPTASRT VKALAVSAGD
360 370 380 390 400
NLVLTLPDRE AELKASVEPA PPADTTYSYE WSLMSHPVDF QGKIKQENKP
410 420 430 440 450
TLHLSQLSVG LYAFRVAVSS ENAFGEGYVN VTVMPAARVN QPPVAVVSPQ
460 470 480 490 500
TQELSVPLTS ALIDGSQSTD DTEIVSYHWE EVDGPFLGEE FPADTPILRL
510 520 530 540 550
SNLVPGNYTF RLTITDSDGA TNSTTASLVI RDAVDYPPVA NAGPNQTITL
560 570 580 590 600
PQNTIILNGN QSSDDHQIVL YEWFAGPGGE SKEMVMQGAQ TPYLHLSELQ
610 620 630 640 650
EGEYTFQLMV TDSSGQQSTA LVAVTVQAEN NQAPVAVAGP DKELVFPVQS
660 670 680 690 700
ATLDGSRSSD DHGIVCYHWE HIRGPSAVEM ENVDKAIATV TGLQVGIYHF
710 720 730 740 750
RLTVRDQQGL SSTSTLTVAV KKENNSPPRA QAGGRHVLIL PNNSITLDGS
760 770 780 790 800
RSTDDRGIVS YLWIRDGQSP AAGDVIGGSD HRAALQLTNL VEGVYTFHLL
810 820 830 840 850
VTDSQGASDS DAATVEVLPD PKKDGLVELI LQVGVEQLTE QQKETLVRQL
860 870 880 890 900
AVLLNVLDSD VKVLKIQAHT DVSTVIVFYV QSGSPFKVLR AAAVARNLHK
910 920 930 940 950
RLSKEKEAFL LFKVLRVDTA GCLLKCSGHG HCDPITKRCI CSQLWMENLI
960 970 980 990 1000
QRYMWDGESN CEWSVFYVAA LALTLTLLTG AVSWLCICCC RRRKRTKIRK
1010 1020 1030 1040 1050
KTKYTILDSM DEQERMELRP KYGIKHRSTE HNSSLMVSES EFESDQDTLF
1060 1070 1080
SRERMERGVL KGSLNGCARN GVSFGYYSKD R
Length:1,081
Mass (Da):117,988
Last modified:December 21, 2004 - v1
Checksum:iC142C9746D9AF4DA
GO

Sequence cautioni

The sequence BAC65528.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK122246 mRNA. Translation: BAC65528.1. Different initiation.
AL589699 Genomic DNA. Translation: CAI26085.1.
BC115723 mRNA. Translation: AAI15724.1.
BC115940 mRNA. Translation: AAI15941.1.
CCDSiCCDS36624.1.
RefSeqiNP_001074520.1. NM_001081051.1.
UniGeneiMm.261514.

Genome annotation databases

EnsembliENSMUST00000006893; ENSMUSP00000006893; ENSMUSG00000006711.
GeneIDi210108.
KEGGimmu:210108.
UCSCiuc007pwn.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK122246 mRNA. Translation: BAC65528.1 . Different initiation.
AL589699 Genomic DNA. Translation: CAI26085.1 .
BC115723 mRNA. Translation: AAI15724.1 .
BC115940 mRNA. Translation: AAI15941.1 .
CCDSi CCDS36624.1.
RefSeqi NP_001074520.1. NM_001081051.1.
UniGenei Mm.261514.

3D structure databases

ProteinModelPortali Q5SZV5.
SMRi Q5SZV5. Positions 336-436, 452-532, 540-630, 636-724.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q5SZV5.

Proteomic databases

MaxQBi Q5SZV5.
PaxDbi Q5SZV5.
PRIDEi Q5SZV5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000006893 ; ENSMUSP00000006893 ; ENSMUSG00000006711 .
GeneIDi 210108.
KEGGi mmu:210108.
UCSCi uc007pwn.1. mouse.

Organism-specific databases

MGIi MGI:3036268. D130043K22Rik.
Rougei Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00740000115558.
HOGENOMi HOG000043880.
HOVERGENi HBG057130.
InParanoidi Q5SZV5.
OMAi NYEWSLI.
PhylomeDBi Q5SZV5.
TreeFami TF323356.

Miscellaneous databases

NextBioi 372870.
SOURCEi Search...

Gene expression databases

Bgeei Q5SZV5.
CleanExi MM_D130043K22RIK.
ExpressionAtlasi Q5SZV5. baseline and differential.
Genevestigatori Q5SZV5.

Family and domain databases

Gene3Di 2.60.40.670. 2 hits.
InterProi IPR003961. Fibronectin_type3.
IPR013980. MANSC.
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.
SM00089. PKD. 5 hits.
[Graphical view ]
SUPFAMi SSF49299. SSF49299. 4 hits.
PROSITEi PS50986. MANSC. 1 hit.
PS50093. PKD. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
    Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S., Nakajima D., Nagase T., Ohara O., Koga H.
    DNA Res. 10:35-48(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. "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].
  4. "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: DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiK0319_MOUSE
AccessioniPrimary (citable) accession number: Q5SZV5
Secondary accession number(s): Q14BF3, Q80U39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: December 21, 2004
Last modified: November 26, 2014
This is version 77 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3