UniProtKB - Q8IZA0 (K319L_HUMAN)
Protein
Dyslexia-associated protein KIAA0319-like protein
Gene
KIAA0319L
Organism
Homo sapiens (Human)
Status
Functioni
Possible role in axon guidance through interaction with RTN4R.1 Publication
(Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.1 Publication
GO - Biological processi
- viral process Source: UniProtKB-KW
Keywordsi
Biological process | Host-virus interaction |
Enzyme and pathway databases
PathwayCommonsi | Q8IZA0 |
Names & Taxonomyi
Protein namesi | Recommended name: Dyslexia-associated protein KIAA0319-like protein1 PublicationAlternative name(s): Adeno-associated virus receptor1 Publication Short name: AAVR1 Publication |
Gene namesi | ORF Names:PP7911 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30071, KIAA0319L |
MIMi | 613535, gene |
neXtProti | NX_Q8IZA0 |
VEuPathDBi | HostDB:ENSG00000142687.17 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane 1 Publication; Multi-pass membrane protein Curated
- trans-Golgi network membrane 1 Publication; Multi-pass membrane protein Curated
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Curated
Other locations
- Cytoplasmic granule membrane Curated; Multi-pass membrane protein Curated
Note: Traffics from the plasma membrane to the trans-Golgi network.1 Publication
Golgi apparatus
- Golgi apparatus Source: HPA
- Golgi membrane Source: UniProtKB-SubCell
Nucleus
- nucleolus Source: HPA
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- cytoplasmic vesicle Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 29 | CytoplasmicSequence analysisAdd BLAST | 29 | |
Transmembranei | 30 – 50 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 51 – 932 | ExtracellularSequence analysisAdd BLAST | 882 | |
Transmembranei | 933 – 953 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 954 – 1049 | CytoplasmicSequence analysisAdd BLAST | 96 |
Keywords - Cellular componenti
Cell membrane, Golgi apparatus, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 79932 |
MalaCardsi | KIAA0319L |
OpenTargetsi | ENSG00000142687 |
Orphaneti | 220402, Limited cutaneous systemic sclerosis 536, Systemic lupus erythematosus |
PharmGKBi | PA142671625 |
Miscellaneous databases
Pharosi | Q8IZA0, Tbio |
Genetic variation databases
BioMutai | KIAA0319L |
DMDMi | 187609609 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000329064 | 1 – 1049 | Dyslexia-associated protein KIAA0319-like proteinAdd BLAST | 1049 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 247 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 395 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 472 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 487 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 525 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 974 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 978 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1009 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1031 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1037 | PhosphothreonineCombined sources | 1 |
Post-translational modificationi
N-glycosylated.2 Publications
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q8IZA0 |
jPOSTi | Q8IZA0 |
MassIVEi | Q8IZA0 |
MaxQBi | Q8IZA0 |
PaxDbi | Q8IZA0 |
PeptideAtlasi | Q8IZA0 |
PRIDEi | Q8IZA0 |
ProteomicsDBi | 71307 [Q8IZA0-1] 71308 [Q8IZA0-2] 71309 [Q8IZA0-3] |
PTM databases
GlyGeni | Q8IZA0, 14 sites, 4 O-linked glycans (5 sites) |
iPTMneti | Q8IZA0 |
PhosphoSitePlusi | Q8IZA0 |
SwissPalmi | Q8IZA0 |
Expressioni
Tissue specificityi
Expressed in cortical neurons in the brain cortex (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000142687, Expressed in prostate gland and 228 other tissues |
ExpressionAtlasi | Q8IZA0, baseline and differential |
Genevisiblei | Q8IZA0, HS |
Organism-specific databases
HPAi | ENSG00000142687, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with RTN4R.
1 Publication(Microbial infection) Interacts with AAV-2 VP1.
1 PublicationBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 123007, 43 interactors |
IntActi | Q8IZA0, 26 interactors |
STRINGi | 9606.ENSP00000318406 |
Miscellaneous databases
RNActi | Q8IZA0, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8IZA0 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8IZA0 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 49 – 127 | MANSCPROSITE-ProRule annotationAdd BLAST | 79 | |
Domaini | 312 – 401 | PKD 1PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 409 – 498 | PKD 2PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 504 – 594 | PKD 3PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 600 – 688 | PKD 4PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 694 – 785 | PKD 5PROSITE-ProRule annotationAdd BLAST | 92 |
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QR8M, Eukaryota |
GeneTreei | ENSGT00940000157613 |
InParanoidi | Q8IZA0 |
OMAi | RTPYVQL |
OrthoDBi | 476157at2759 |
PhylomeDBi | Q8IZA0 |
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 IPR022409, PKD/Chitinase_dom IPR000601, PKD_dom IPR035986, PKD_dom_sf |
PANTHERi | PTHR46182, PTHR46182, 1 hit |
SMARTi | View protein in SMART SM00089, PKD, 5 hits |
SUPFAMi | SSF49299, SSF49299, 4 hits |
PROSITEi | View protein in PROSITE PS50986, MANSC, 1 hit PS50093, PKD, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8IZA0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEKRLGVKPN PASWILSGYY WQTSAKWLRS LYLFYTCFCF SVLWLSTDAS
60 70 80 90 100
ESRCQQGKTQ FGVGLRSGGE NHLWLLEGTP SLQSCWAACC QDSACHVFWW
110 120 130 140 150
LEGMCIQADC SRPQSCRAFR THSSNSMLVF LKKFQTADDL GFLPEDDVPH
160 170 180 190 200
LLGLGWNWAS WRQSPPRAAL RPAVSSSDQQ SLIRKLQKRG SPSDVVTPIV
210 220 230 240 250
TQHSKVNDSN ELGGLTTSGS AEVHKAITIS SPLTTDLTAE LSGGPKNVSV
260 270 280 290 300
QPEISEGLAT TPSTQQVKSS EKTQIAVPQP VAPSYSYATP TPQASFQSTS
310 320 330 340 350
APYPVIKELV VSAGESVQIT LPKNEVQLNA YVLQEPPKGE TYTYDWQLIT
360 370 380 390 400
HPRDYSGEME GKHSQILKLS KLTPGLYEFK VIVEGQNAHG EGYVNVTVKP
410 420 430 440 450
EPRKNRPPIA IVSPQFQEIS LPTTSTVIDG SQSTDDDKIV QYHWEELKGP
460 470 480 490 500
LREEKISEDT AILKLSKLVP GNYTFSLTVV DSDGATNSTT ANLTVNKAVD
510 520 530 540 550
YPPVANAGPN QVITLPQNSI TLFGNQSTDD HGITSYEWSL SPSSKGKVVE
560 570 580 590 600
MQGVRTPTLQ LSAMQEGDYT YQLTVTDTIG QQATAQVTVI VQPENNKPPQ
610 620 630 640 650
ADAGPDKELT LPVDSTTLDG SKSSDDQKII SYLWEKTQGP DGVQLENANS
660 670 680 690 700
SVATVTGLQV GTYVFTLTVK DERNLQSQSS VNVIVKEEIN KPPIAKITGN
710 720 730 740 750
VVITLPTSTA ELDGSKSSDD KGIVSYLWTR DEGSPAAGEV LNHSDHHPIL
760 770 780 790 800
FLSNLVEGTY TFHLKVTDAK GESDTDRTTV EVKPDPRKNN LVEIILDINV
810 820 830 840 850
SQLTERLKGM FIRQIGVLLG VLDSDIIVQK IQPYTEQSTK MVFFVQNEPP
860 870 880 890 900
HQIFKGHEVA AMLKSELRKQ KADFLIFRAL EVNTVTCQLN CSDHGHCDSF
910 920 930 940 950
TKRCICDPFW MENFIKVQLR DGDSNCEWSV LYVIIATFVI VVALGILSWT
960 970 980 990 1000
VICCCKRQKG KPKRKSKYKI LDATDQESLE LKPTSRAGIK QKGLLLSSSL
1010 1020 1030 1040
MHSESELDSD DAIFTWPDRE KGKLLHGQNG SVPNGQTPLK ARSPREEIL
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J519 | C9J519_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 486 | Annotation score: | ||
E7EN73 | E7EN73_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 1,026 | Annotation score: | ||
H0Y4S8 | H0Y4S8_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 304 | Annotation score: | ||
F8WAW2 | F8WAW2_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 77 | Annotation score: | ||
B1AN15 | B1AN15_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 685 | Annotation score: | ||
C9JVB2 | C9JVB2_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 273 | Annotation score: | ||
C9JQ56 | C9JQ56_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 179 | Annotation score: | ||
B4DYG9 | B4DYG9_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319L | 344 | Annotation score: |
Sequence cautioni
The sequence AAD05028 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAL55781 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14874 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB47466 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 37 | C → Y in AAN61054 (Ref. 1) Curated | 1 | |
Sequence conflicti | 37 | C → Y in AAG24389 (PubMed:15498874).Curated | 1 | |
Sequence conflicti | 86 | W → L in AAH14530 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 203 | H → Y in AAG24389 (PubMed:15498874).Curated | 1 | |
Sequence conflicti | 520 | I → T in AAG24389 (PubMed:15498874).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042644 | 243 | G → D. Corresponds to variant dbSNP:rs1635712EnsemblClinVar. | 1 | |
Natural variantiVAR_042645 | 837 | Q → H. Corresponds to variant dbSNP:rs1361040Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032953 | 1 – 563 | Missing in isoform 3. 1 PublicationAdd BLAST | 563 | |
Alternative sequenceiVSP_032954 | 638 | Q → HFFFCR in isoform 3. 1 Publication | 1 | |
Alternative sequenceiVSP_032955 | 989 – 1049 | IKQKG…REEIL → RGPGCQSF in isoform 2. 1 PublicationAdd BLAST | 61 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY163234 mRNA Translation: AAN61054.1 AF275679 mRNA Translation: AAG24389.2 AF289597 mRNA Translation: AAL55781.1 Different initiation. AC004865 Genomic DNA Translation: AAD05028.1 Sequence problems. AL356362 Genomic DNA No translation available. AL445211 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07415.1 CH471059 Genomic DNA Translation: EAX07416.1 BC001858 mRNA Translation: AAH01858.2 BC007645 mRNA Translation: AAH07645.1 BC014530 mRNA Translation: AAH14530.1 BC031672 mRNA Translation: AAH31672.2 AL834315 mRNA Translation: CAD38985.1 AK024287 mRNA Translation: BAB14874.1 Different initiation. AK090878 mRNA Translation: BAC03536.1 AB058740 mRNA Translation: BAB47466.1 Sequence problems. |
CCDSi | CCDS390.1 [Q8IZA0-1] |
RefSeqi | NP_079150.3, NM_024874.4 [Q8IZA0-1] XP_006710970.1, XM_006710907.1 [Q8IZA0-1] XP_006710972.1, XM_006710909.1 [Q8IZA0-1] XP_006710973.1, XM_006710910.1 XP_011540481.1, XM_011542179.2 [Q8IZA0-1] XP_016857865.1, XM_017002376.1 XP_016857867.1, XM_017002378.1 [Q8IZA0-3] |
Genome annotation databases
Ensembli | ENST00000325722; ENSP00000318406; ENSG00000142687 [Q8IZA0-1] |
GeneIDi | 79932 |
KEGGi | hsa:79932 |
UCSCi | uc001byx.4, human [Q8IZA0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY163234 mRNA Translation: AAN61054.1 AF275679 mRNA Translation: AAG24389.2 AF289597 mRNA Translation: AAL55781.1 Different initiation. AC004865 Genomic DNA Translation: AAD05028.1 Sequence problems. AL356362 Genomic DNA No translation available. AL445211 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07415.1 CH471059 Genomic DNA Translation: EAX07416.1 BC001858 mRNA Translation: AAH01858.2 BC007645 mRNA Translation: AAH07645.1 BC014530 mRNA Translation: AAH14530.1 BC031672 mRNA Translation: AAH31672.2 AL834315 mRNA Translation: CAD38985.1 AK024287 mRNA Translation: BAB14874.1 Different initiation. AK090878 mRNA Translation: BAC03536.1 AB058740 mRNA Translation: BAB47466.1 Sequence problems. |
CCDSi | CCDS390.1 [Q8IZA0-1] |
RefSeqi | NP_079150.3, NM_024874.4 [Q8IZA0-1] XP_006710970.1, XM_006710907.1 [Q8IZA0-1] XP_006710972.1, XM_006710909.1 [Q8IZA0-1] XP_006710973.1, XM_006710910.1 XP_011540481.1, XM_011542179.2 [Q8IZA0-1] XP_016857865.1, XM_017002376.1 XP_016857867.1, XM_017002378.1 [Q8IZA0-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2YRL | NMR | - | A | 600-688 | [»] | |
6IHB | electron microscopy | 2.84 | R | 404-497 | [»] | |
6JCQ | electron microscopy | 3.30 | R | 407-497 | [»] | |
6JCS | electron microscopy | 3.18 | R | 305-401 | [»] | |
6NZ0 | electron microscopy | 2.40 | Z | 311-597 | [»] | |
SMRi | Q8IZA0 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123007, 43 interactors |
IntActi | Q8IZA0, 26 interactors |
STRINGi | 9606.ENSP00000318406 |
PTM databases
GlyGeni | Q8IZA0, 14 sites, 4 O-linked glycans (5 sites) |
iPTMneti | Q8IZA0 |
PhosphoSitePlusi | Q8IZA0 |
SwissPalmi | Q8IZA0 |
Genetic variation databases
BioMutai | KIAA0319L |
DMDMi | 187609609 |
Proteomic databases
EPDi | Q8IZA0 |
jPOSTi | Q8IZA0 |
MassIVEi | Q8IZA0 |
MaxQBi | Q8IZA0 |
PaxDbi | Q8IZA0 |
PeptideAtlasi | Q8IZA0 |
PRIDEi | Q8IZA0 |
ProteomicsDBi | 71307 [Q8IZA0-1] 71308 [Q8IZA0-2] 71309 [Q8IZA0-3] |
Protocols and materials databases
Antibodypediai | 2498, 83 antibodies |
Genome annotation databases
Ensembli | ENST00000325722; ENSP00000318406; ENSG00000142687 [Q8IZA0-1] |
GeneIDi | 79932 |
KEGGi | hsa:79932 |
UCSCi | uc001byx.4, human [Q8IZA0-1] |
Organism-specific databases
CTDi | 79932 |
DisGeNETi | 79932 |
GeneCardsi | KIAA0319L |
HGNCi | HGNC:30071, KIAA0319L |
HPAi | ENSG00000142687, Low tissue specificity |
MalaCardsi | KIAA0319L |
MIMi | 613535, gene |
neXtProti | NX_Q8IZA0 |
OpenTargetsi | ENSG00000142687 |
Orphaneti | 220402, Limited cutaneous systemic sclerosis 536, Systemic lupus erythematosus |
PharmGKBi | PA142671625 |
VEuPathDBi | HostDB:ENSG00000142687.17 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QR8M, Eukaryota |
GeneTreei | ENSGT00940000157613 |
InParanoidi | Q8IZA0 |
OMAi | RTPYVQL |
OrthoDBi | 476157at2759 |
PhylomeDBi | Q8IZA0 |
TreeFami | TF323356 |
Enzyme and pathway databases
PathwayCommonsi | Q8IZA0 |
Miscellaneous databases
BioGRID-ORCSi | 79932, 7 hits in 880 CRISPR screens |
ChiTaRSi | KIAA0319L, human |
EvolutionaryTracei | Q8IZA0 |
GenomeRNAii | 79932 |
Pharosi | Q8IZA0, Tbio |
PROi | PR:Q8IZA0 |
RNActi | Q8IZA0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000142687, Expressed in prostate gland and 228 other tissues |
ExpressionAtlasi | Q8IZA0, baseline and differential |
Genevisiblei | Q8IZA0, HS |
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 IPR022409, PKD/Chitinase_dom IPR000601, PKD_dom IPR035986, PKD_dom_sf |
PANTHERi | PTHR46182, PTHR46182, 1 hit |
SMARTi | View protein in SMART SM00089, PKD, 5 hits |
SUPFAMi | SSF49299, SSF49299, 4 hits |
PROSITEi | View protein in PROSITE PS50986, MANSC, 1 hit PS50093, PKD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | K319L_HUMAN | |
Accessioni | Q8IZA0Primary (citable) accession number: Q8IZA0 Secondary accession number(s): B1AN13 Q9H7V0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 29, 2008 |
Last sequence update: | April 29, 2008 | |
Last modified: | February 10, 2021 | |
This is version 142 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references