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Q5SZV5 (K0319_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dyslexia-associated protein KIAA0319 homolog
Gene names
Name:Kiaa0319
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1081 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity. Early endosome membrane; Single-pass type I membrane protein By similarity.

Developmental stage

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. Ref.4

Post-translational modification

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.

Sequence similarities

Contains 1 MANSC domain.

Contains 5 PKD domains.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 10811059Dyslexia-associated protein KIAA0319 homolog
PRO_0000042947

Regions

Topological domain23 – 964942Extracellular Potential
Transmembrane965 – 98521Helical; Potential
Topological domain986 – 108196Cytoplasmic Potential
Domain23 – 9977MANSC
Domain345 – 43692PKD 1
Domain444 – 53390PKD 2
Domain539 – 62991PKD 3
Domain630 – 72394PKD 4
Domain729 – 82092PKD 5
Motif1004 – 10074Endocytosis signal

Amino acid modifications

Glycosylation1961N-linked (GlcNAc...) Potential
Glycosylation2281N-linked (GlcNAc...) Potential
Glycosylation2721N-linked (GlcNAc...) Potential
Glycosylation3021N-linked (GlcNAc...) Potential
Glycosylation4301N-linked (GlcNAc...) Potential
Glycosylation5071N-linked (GlcNAc...) Potential
Glycosylation5221N-linked (GlcNAc...) Potential
Glycosylation5451N-linked (GlcNAc...) Potential
Glycosylation5601N-linked (GlcNAc...) Potential
Glycosylation7421N-linked (GlcNAc...) Potential

Sequences

Sequence LengthMass (Da)Tools
Q5SZV5 [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: C142C9746D9AF4DA

FASTA1,081117,988
        10         20         30         40         50         60 
MVSPPGVLSS LLLLAAMAGG SSQQCSEGRT YSDAIISPNP ETIRIMRVSQ TFSVGDCTAA 

        70         80         90        100        110        120 
CCDLLTCDLA WWFEGSCYLV KCMRSENCEP RTTGPIRSYL TFVRRPVQRP GQLLDYGDMM 

       130        140        150        160        170        180 
LSRGSPSGAW GDSLEDLRKD LPFLGKDGGP EETTEYSDEY KDLERGLLQP SNQQDPRGSA 

       190        200        210        220        230        240 
EYPDWSLLPS NEGGFNATAT GDNSAASMEK LQDPTPHPLD QEQLQALNES TWSPTPGHSS 

       250        260        270        280        290        300 
ISSVWPSSAS PLPTEEGLEG EETLQLQEQP SNSSGKEVPM PSHNPSPASL ESSPATTEKN 

       310        320        330        340        350        360 
SNFTVTPRSR KHSTPTFPTS TVLTGLTPPP WPLSPTASRT VKALAVSAGD NLVLTLPDRE 

       370        380        390        400        410        420 
AELKASVEPA PPADTTYSYE WSLMSHPVDF QGKIKQENKP TLHLSQLSVG LYAFRVAVSS 

       430        440        450        460        470        480 
ENAFGEGYVN VTVMPAARVN QPPVAVVSPQ TQELSVPLTS ALIDGSQSTD DTEIVSYHWE 

       490        500        510        520        530        540 
EVDGPFLGEE FPADTPILRL SNLVPGNYTF RLTITDSDGA TNSTTASLVI RDAVDYPPVA 

       550        560        570        580        590        600 
NAGPNQTITL PQNTIILNGN QSSDDHQIVL YEWFAGPGGE SKEMVMQGAQ TPYLHLSELQ 

       610        620        630        640        650        660 
EGEYTFQLMV TDSSGQQSTA LVAVTVQAEN NQAPVAVAGP DKELVFPVQS ATLDGSRSSD 

       670        680        690        700        710        720 
DHGIVCYHWE HIRGPSAVEM ENVDKAIATV TGLQVGIYHF RLTVRDQQGL SSTSTLTVAV 

       730        740        750        760        770        780 
KKENNSPPRA QAGGRHVLIL PNNSITLDGS RSTDDRGIVS YLWIRDGQSP AAGDVIGGSD 

       790        800        810        820        830        840 
HRAALQLTNL VEGVYTFHLL VTDSQGASDS DAATVEVLPD PKKDGLVELI LQVGVEQLTE 

       850        860        870        880        890        900 
QQKETLVRQL AVLLNVLDSD VKVLKIQAHT DVSTVIVFYV QSGSPFKVLR AAAVARNLHK 

       910        920        930        940        950        960 
RLSKEKEAFL LFKVLRVDTA GCLLKCSGHG HCDPITKRCI CSQLWMENLI QRYMWDGESN 

       970        980        990       1000       1010       1020 
CEWSVFYVAA LALTLTLLTG AVSWLCICCC RRRKRTKIRK KTKYTILDSM DEQERMELRP 

      1030       1040       1050       1060       1070       1080 
KYGIKHRSTE HNSSLMVSES EFESDQDTLF SRERMERGVL KGSLNGCARN GVSFGYYSKD 


R 

« Hide

References

« Hide 'large scale' references
[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]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK122246 mRNA. Translation: BAC65528.1. Different initiation.
AL589699 Genomic DNA. Translation: CAI26085.1.
BC115723 mRNA. Translation: AAI15724.1.
BC115940 mRNA. Translation: AAI15941.1.
RefSeqNP_001074520.1. NM_001081051.1.
UniGeneMm.261514.

3D structure databases

ProteinModelPortalQ5SZV5.
SMRQ5SZV5. Positions 336-436, 452-532, 540-630, 636-821.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ5SZV5.

Proteomic databases

PaxDbQ5SZV5.
PRIDEQ5SZV5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000006893; ENSMUSP00000006893; ENSMUSG00000006711.
GeneID210108.
KEGGmmu:210108.
UCSCuc007pwn.1. mouse.

Organism-specific databases

MGIMGI:3036268. D130043K22Rik.
RougeSearch...

Phylogenomic databases

eggNOGNOG12793.
GeneTreeENSGT00740000115558.
HOGENOMHOG000043880.
HOVERGENHBG057130.
InParanoidQ14BF3.
OMANYEWSLI.
PhylomeDBQ5SZV5.
TreeFamTF323356.

Gene expression databases

ArrayExpressQ5SZV5.
BgeeQ5SZV5.
CleanExMM_D130043K22RIK.
GenevestigatorQ5SZV5.

Family and domain databases

Gene3D2.60.40.670. 2 hits.
InterProIPR003961. Fibronectin_type3.
IPR013980. MANSC.
IPR022409. PKD/Chitinase_dom.
IPR002859. PKD/REJ-like.
IPR000601. PKD_dom.
[Graphical view]
PfamPF02010. REJ. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 4 hits.
SM00089. PKD. 5 hits.
[Graphical view]
SUPFAMSSF49299. SSF49299. 4 hits.
PROSITEPS50986. MANSC. 1 hit.
PS50093. PKD. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio372870.
SOURCESearch...

Entry information

Entry nameK0319_MOUSE
AccessionPrimary (citable) accession number: Q5SZV5
Secondary accession number(s): Q14BF3, Q80U39
Entry history
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: December 21, 2004
Last modified: April 16, 2014
This is version 72 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot