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Protein

Dyslexia-associated protein KIAA0319-like protein

Gene

KIAA0319L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Names & Taxonomyi

Protein namesi
Recommended name:
Dyslexia-associated protein KIAA0319-like protein1 Publication
Alternative name(s):
Adeno-associated virus receptor1 Publication
Short name:
AAVR1 Publication
Gene namesi
Name:KIAA0319LImported
Synonyms:AAVR1 Publication, KIAA18371 Publication
ORF Names:PP7911 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000142687.17
HGNCiHGNC:30071 KIAA0319L
MIMi613535 gene
neXtProtiNX_Q8IZA0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 29CytoplasmicSequence analysisAdd BLAST29
Transmembranei30 – 50HelicalSequence analysisAdd BLAST21
Topological domaini51 – 932ExtracellularSequence analysisAdd BLAST882
Transmembranei933 – 953HelicalSequence analysisAdd BLAST21
Topological domaini954 – 1049CytoplasmicSequence analysisAdd BLAST96

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi79932
MalaCardsiKIAA0319L
OpenTargetsiENSG00000142687
Orphaneti220402 Limited cutaneous systemic sclerosis
536 Systemic lupus erythematosus
PharmGKBiPA142671625

Polymorphism and mutation databases

BioMutaiKIAA0319L
DMDMi187609609

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003290641 – 1049Dyslexia-associated protein KIAA0319-like proteinAdd BLAST1049

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi247N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi395N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi472N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi487N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi525N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei974PhosphothreonineCombined sources1
Modified residuei978PhosphoserineCombined sources1
Modified residuei1009PhosphoserineBy similarity1
Modified residuei1031PhosphoserineCombined sources1
Modified residuei1037PhosphothreonineCombined sources1

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8IZA0
MaxQBiQ8IZA0
PaxDbiQ8IZA0
PeptideAtlasiQ8IZA0
PRIDEiQ8IZA0
ProteomicsDBi71307
71308 [Q8IZA0-2]
71309 [Q8IZA0-3]

PTM databases

iPTMnetiQ8IZA0
PhosphoSitePlusiQ8IZA0
SwissPalmiQ8IZA0

Expressioni

Tissue specificityi

Expressed in cortical neurons in the brain cortex (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000142687
CleanExiHS_KIAA0319L
ExpressionAtlasiQ8IZA0 baseline and differential
GenevisibleiQ8IZA0 HS

Organism-specific databases

HPAiHPA072692

Interactioni

Subunit structurei

Interacts with RTN4R.1 Publication
(Microbial infection) Interacts with AAV-2 VP1.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi123007, 27 interactors
IntActiQ8IZA0, 7 interactors
STRINGi9606.ENSP00000318406

Structurei

Secondary structure

11049
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi607 – 610Combined sources4
Beta strandi615 – 619Combined sources5
Beta strandi625 – 627Combined sources3
Beta strandi634 – 639Combined sources6
Beta strandi644 – 647Combined sources4
Beta strandi650 – 657Combined sources8
Beta strandi660 – 671Combined sources12
Beta strandi676 – 686Combined sources11

3D structure databases

ProteinModelPortaliQ8IZA0
SMRiQ8IZA0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8IZA0

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 127MANSCPROSITE-ProRule annotationAdd BLAST79
Domaini312 – 401PKD 1PROSITE-ProRule annotationAdd BLAST90
Domaini409 – 498PKD 2PROSITE-ProRule annotationAdd BLAST90
Domaini504 – 594PKD 3PROSITE-ProRule annotationAdd BLAST91
Domaini600 – 688PKD 4PROSITE-ProRule annotationAdd BLAST89
Domaini694 – 785PKD 5PROSITE-ProRule annotationAdd BLAST92

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFQB Eukaryota
ENOG410XQ5Y LUCA
GeneTreeiENSGT00880000137941
HOVERGENiHBG057130
InParanoidiQ8IZA0
OMAiQSCWAAC
OrthoDBiEOG091G016C
PhylomeDBiQ8IZA0
TreeFamiTF323356

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR029865 KIAA0319-like
IPR013980 MANSC_dom
IPR022409 PKD/Chitinase_dom
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
PANTHERiPTHR10083:SF166 PTHR10083:SF166, 1 hit
SMARTiView protein in SMART
SM00089 PKD, 5 hits
SUPFAMiSSF49299 SSF49299, 4 hits
PROSITEiView protein in PROSITE
PS50986 MANSC, 1 hit
PS50093 PKD, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZA0-1) [UniParc]FASTAAdd to basket

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
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
Length:1,049
Mass (Da):115,658
Last modified:April 29, 2008 - v2
Checksum:iFD81BFCA3D38D106
GO
Isoform 2 (identifier: Q8IZA0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     989-1049: IKQKGLLLSSSLMHSESELDSDDAIFTWPDREKGKLLHGQNGSVPNGQTPLKARSPREEIL → RGPGCQSF

Note: No experimental confirmation available.
Show »
Length:996
Mass (Da):109,752
Checksum:iE4D2181467A9353C
GO
Isoform 3 (identifier: Q8IZA0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-563: Missing.
     638-638: Q → HFFFCR

Note: No experimental confirmation available.
Show »
Length:491
Mass (Da):54,656
Checksum:iD920F8CBB52D3CC9
GO

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. Translation N-terminally extended.Curated
The sequence BAB14874 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB47466 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence CAI22688 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI23123 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37C → Y in AAN61054 (Ref. 1) Curated1
Sequence conflicti37C → Y in AAG24389 (PubMed:15498874).Curated1
Sequence conflicti86W → L in AAH14530 (PubMed:15489334).Curated1
Sequence conflicti203H → Y in AAG24389 (PubMed:15498874).Curated1
Sequence conflicti520I → T in AAG24389 (PubMed:15498874).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042644243G → D. Corresponds to variant dbSNP:rs1635712Ensembl.1
Natural variantiVAR_042645837Q → H. Corresponds to variant dbSNP:rs1361040Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0329531 – 563Missing in isoform 3. 1 PublicationAdd BLAST563
Alternative sequenceiVSP_032954638Q → HFFFCR in isoform 3. 1 Publication1
Alternative sequenceiVSP_032955989 – 1049IKQKG…REEIL → RGPGCQSF in isoform 2. 1 PublicationAdd BLAST61

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.
AL356362, AC004865, AL445211 Genomic DNA Translation: CAI22688.1 Sequence problems.
AL445211, AC004865, AL356362 Genomic DNA Translation: CAI23123.1 Sequence problems.
AC004865 Genomic DNA Translation: AAD05028.1 Sequence problems.
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.
CCDSiCCDS390.1 [Q8IZA0-1]
RefSeqiNP_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]
UniGeneiHs.456507
Hs.683078

Genome annotation databases

EnsembliENST00000325722; ENSP00000318406; ENSG00000142687 [Q8IZA0-1]
GeneIDi79932
KEGGihsa:79932
UCSCiuc001byx.4 human [Q8IZA0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiK319L_HUMAN
AccessioniPrimary (citable) accession number: Q8IZA0
Secondary accession number(s): B1AN13
, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: June 20, 2018
This is version 122 of the entry and version 2 of the sequence. See 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 1
    Human chromosome 1: 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

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