UniProtKB - Q5SZV5 (K0319_MOUSE)
Protein
Dyslexia-associated protein KIAA0319 homolog
Gene
Kiaa0319
Organism
Mus musculus (Mouse)
Status
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
- multicellular organismal response to stress Source: MGI
- negative regulation of axon extension Source: MGI
- negative regulation of axon extension involved in regeneration Source: MGI
- negative regulation of dendrite development Source: UniProtKB
- neuron migration Source: UniProtKB
- positive regulation of SMAD protein signal transduction Source: MGI
- response to auditory stimulus Source: MGI
Keywordsi
Molecular function | Developmental protein |
Biological process | Neurogenesis |
Enzyme and pathway databases
Reactomei | R-MMU-8856825, Cargo recognition for clathrin-mediated endocytosis R-MMU-8856828, Clathrin-mediated endocytosis |
Names & Taxonomyi
Protein namesi | Recommended name: Dyslexia-associated protein KIAA0319 homolog |
Gene namesi | Name:Kiaa0319 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:3036268, D130043K22Rik |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Single-pass type I membrane protein By similarity
Endosome
- Early endosome membrane By similarity; Single-pass type I membrane protein By similarity
Endosome
- early endosome Source: UniProtKB
- early endosome membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cytoplasmic vesicle Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 23 – 964 | ExtracellularSequence analysisAdd BLAST | 942 | |
Transmembranei | 965 – 985 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 986 – 1081 | CytoplasmicSequence analysisAdd BLAST | 96 |
Keywords - Cellular componenti
Cell membrane, Endosome, MembranePTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 22 | Sequence analysisAdd BLAST | 22 | |
ChainiPRO_0000042947 | 23 – 1081 | Dyslexia-associated protein KIAA0319 homologAdd BLAST | 1059 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 196 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 228 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 272 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 302 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 430 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 507 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 522 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 545 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 560 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 742 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 1009 | PhosphoserineCombined sources | 1 |
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, PhosphoproteinProteomic databases
MaxQBi | Q5SZV5 |
PaxDbi | Q5SZV5 |
PRIDEi | Q5SZV5 |
ProteomicsDBi | 269038 |
PTM databases
GlyConnecti | 2268, 2 N-Linked glycans (1 site) |
GlyGeni | Q5SZV5, 10 sites |
iPTMneti | Q5SZV5 |
PhosphoSitePlusi | Q5SZV5 |
Expressioni
Developmental stagei
Expressed in the frontal neocortex, glanglionic eminence, mesencephalon and cerebellum at 13.5 dpc. More prominently expressed in the developing cerebral neocortex and mesencephalon at 15.5 dpc and in the cortical plate and in the remnant of the ventricular zone at 18.5 dpc.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000006711, Expressed in ventromedial nucleus of hypothalamus and 152 other tissues |
Genevisiblei | Q5SZV5, MM |
Interactioni
Subunit structurei
Homodimer.
Interacts with AP2M1; required for clathrin-mediated endocytosis (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 229131, 1 interactor |
IntActi | Q5SZV5, 1 interactor |
STRINGi | 10090.ENSMUSP00000006893 |
Miscellaneous databases
RNActi | Q5SZV5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 23 – 99 | MANSCPROSITE-ProRule annotationAdd BLAST | 77 | |
Domaini | 345 – 436 | PKD 1PROSITE-ProRule annotationAdd BLAST | 92 | |
Domaini | 444 – 533 | PKD 2PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 539 – 629 | PKD 3PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 630 – 723 | PKD 4PROSITE-ProRule annotationAdd BLAST | 94 | |
Domaini | 729 – 820 | PKD 5PROSITE-ProRule annotationAdd BLAST | 92 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 1004 – 1007 | Endocytosis signal | 4 |
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QR8M, Eukaryota |
GeneTreei | ENSGT00940000161462 |
HOGENOMi | CLU_009448_0_1_1 |
InParanoidi | Q5SZV5 |
OMAi | WSVFYVT |
OrthoDBi | 476157at2759 |
PhylomeDBi | Q5SZV5 |
TreeFami | TF323356 |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View protein in InterPro IPR013783, Ig-like_fold IPR029865, KIAA0319-like IPR013980, MANSC_dom IPR011106, MANSC_N IPR022409, PKD/Chitinase_dom IPR000601, PKD_dom IPR035986, PKD_dom_sf |
PANTHERi | PTHR46182, PTHR46182, 1 hit |
SMARTi | View protein in SMART SM00765, MANEC, 1 hit SM00089, PKD, 5 hits |
SUPFAMi | SSF49299, SSF49299, 4 hits |
PROSITEi | View protein in PROSITE PS50986, MANSC, 1 hit PS50093, PKD, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q5SZV5-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF2Z497 | F2Z497_MOUSE | RIKEN cDNA D130043K22 gene | D130043K22Rik | 782 | Annotation score: |
Sequence cautioni
The sequence BAC65528 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 |
CCDSi | CCDS36624.1 |
RefSeqi | NP_001074520.1, NM_001081051.2 |
Genome annotation databases
Ensembli | ENSMUST00000006893; ENSMUSP00000006893; ENSMUSG00000006711 |
GeneIDi | 210108 |
KEGGi | mmu:210108 |
UCSCi | uc007pwn.1, mouse |
Similar proteinsi
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_001081051.2 |
3D structure databases
SMRi | Q5SZV5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 229131, 1 interactor |
IntActi | Q5SZV5, 1 interactor |
STRINGi | 10090.ENSMUSP00000006893 |
PTM databases
GlyConnecti | 2268, 2 N-Linked glycans (1 site) |
GlyGeni | Q5SZV5, 10 sites |
iPTMneti | Q5SZV5 |
PhosphoSitePlusi | Q5SZV5 |
Proteomic databases
MaxQBi | Q5SZV5 |
PaxDbi | Q5SZV5 |
PRIDEi | Q5SZV5 |
ProteomicsDBi | 269038 |
Protocols and materials databases
Antibodypediai | 2465, 120 antibodies |
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 | ENOG502QR8M, Eukaryota |
GeneTreei | ENSGT00940000161462 |
HOGENOMi | CLU_009448_0_1_1 |
InParanoidi | Q5SZV5 |
OMAi | WSVFYVT |
OrthoDBi | 476157at2759 |
PhylomeDBi | Q5SZV5 |
TreeFami | TF323356 |
Enzyme and pathway databases
Reactomei | R-MMU-8856825, Cargo recognition for clathrin-mediated endocytosis R-MMU-8856828, Clathrin-mediated endocytosis |
Miscellaneous databases
BioGRID-ORCSi | 210108, 1 hit in 52 CRISPR screens |
ChiTaRSi | D130043K22Rik, mouse |
PROi | PR:Q5SZV5 |
RNActi | Q5SZV5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000006711, Expressed in ventromedial nucleus of hypothalamus and 152 other tissues |
Genevisiblei | Q5SZV5, MM |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View protein in InterPro IPR013783, Ig-like_fold IPR029865, KIAA0319-like IPR013980, MANSC_dom IPR011106, MANSC_N IPR022409, PKD/Chitinase_dom IPR000601, PKD_dom IPR035986, PKD_dom_sf |
PANTHERi | PTHR46182, PTHR46182, 1 hit |
SMARTi | View protein in SMART SM00765, MANEC, 1 hit SM00089, PKD, 5 hits |
SUPFAMi | SSF49299, SSF49299, 4 hits |
PROSITEi | View protein in PROSITE PS50986, MANSC, 1 hit PS50093, PKD, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | K0319_MOUSE | |
Accessioni | Q5SZV5Primary (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: | April 7, 2021 | |
This is version 119 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot