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UniProtKB - Q8IZA0 (K319L_HUMAN)

Entry version 142 (10 Feb 2021)
Sequence version 2 (29 Apr 2008)
Previous versions | rss
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Protein

Dyslexia-associated protein KIAA0319-like protein

Gene

KIAA0319L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHost-virus interaction

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IZA0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dyslexia-associated protein KIAA0319-like protein1 Publication
Alternative name(s):
Adeno-associated virus receptor1 Publication
Short name:
AAVR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KIAA0319LImported
Synonyms:AAVR1 Publication, KIAA18371 Publication
ORF Names:PP7911 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30071, KIAA0319L

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613535, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IZA0

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000142687.17

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 29CytoplasmicSequence analysisAdd BLAST29
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		79932

MalaCards human disease database

More...MalaCardsi		KIAA0319L

Open Targets

More...OpenTargetsi		ENSG00000142687

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		220402, Limited cutaneous systemic sclerosis
536, Systemic lupus erythematosus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671625

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IZA0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIAA0319L

Domain mapping of disease mutations (DMDM)

More...DMDMi		187609609

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003290641 – 1049Dyslexia-associated protein KIAA0319-like proteinAdd BLAST1049

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei974PhosphothreonineCombined sources1
Modified residuei978PhosphoserineCombined sources1
Modified residuei1009PhosphoserineBy similarity1
Modified residuei1031PhosphoserineCombined sources1
Modified residuei1037PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8IZA0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8IZA0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IZA0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8IZA0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8IZA0

PeptideAtlas

More...PeptideAtlasi		Q8IZA0

PRoteomics IDEntifications database

More...PRIDEi		Q8IZA0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71307 [Q8IZA0-1]
71308 [Q8IZA0-2]
71309 [Q8IZA0-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8IZA0, 14 sites, 4 O-linked glycans (5 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IZA0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8IZA0

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8IZA0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000142687, Expressed in prostate gland and 228 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IZA0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IZA0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000142687, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RTN4R.

1 Publication

(Microbial infection) Interacts with AAV-2 VP1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123007, 43 interactors

Protein interaction database and analysis system

More...IntActi		Q8IZA0, 26 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000318406

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IZA0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11049
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8IZA0

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q8IZA0

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR8M, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157613

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IZA0

Identification of Orthologs from Complete Genome Data

More...OMAi		RTPYVQL

Database of Orthologous Groups

More...OrthoDBi		476157at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IZA0

TreeFam database of animal gene trees

More...TreeFami		TF323356

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR46182, PTHR46182, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00089, PKD, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49299, SSF49299, 4 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50986, MANSC, 1 hit
PS50093, PKD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

Show »
Length:491
Mass (Da):54,656
Checksum:iD920F8CBB52D3CC9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J519C9J519_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
486Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EN73E7EN73_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
1,026Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y4S8H0Y4S8_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
304Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAW2F8WAW2_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1AN15B1AN15_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
685Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JVB2C9JVB2_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
273Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JQ56C9JQ56_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DYG9B4DYG9_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319L
344Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_042644243G → D. Corresponds to variant dbSNP:rs1635712EnsemblClinVar.1
Natural variantiVAR_042645837Q → H. Corresponds to variant dbSNP:rs1361040Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS390.1 [Q8IZA0-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000325722; ENSP00000318406; ENSG00000142687 [Q8IZA0-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79932

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79932

UCSC genome browser

More...UCSCi		uc001byx.4, human [Q8IZA0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YRLNMR-A600-688[»]
6IHBelectron microscopy2.84R404-497[»]
6JCQelectron microscopy3.30R407-497[»]
6JCSelectron microscopy3.18R305-401[»]
6NZ0electron microscopy2.40Z311-597[»]
SMRiQ8IZA0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123007, 43 interactors
IntActiQ8IZA0, 26 interactors
STRINGi9606.ENSP00000318406

PTM databases

GlyGeniQ8IZA0, 14 sites, 4 O-linked glycans (5 sites)
iPTMnetiQ8IZA0
PhosphoSitePlusiQ8IZA0
SwissPalmiQ8IZA0

Genetic variation databases

BioMutaiKIAA0319L
DMDMi187609609

Proteomic databases

EPDiQ8IZA0
jPOSTiQ8IZA0
MassIVEiQ8IZA0
MaxQBiQ8IZA0
PaxDbiQ8IZA0
PeptideAtlasiQ8IZA0
PRIDEiQ8IZA0
ProteomicsDBi71307 [Q8IZA0-1]
71308 [Q8IZA0-2]
71309 [Q8IZA0-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2498, 83 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79932
DisGeNETi79932

GeneCards: human genes, protein and diseases

More...GeneCardsi		KIAA0319L
HGNCiHGNC:30071, KIAA0319L
HPAiENSG00000142687, Low tissue specificity
MalaCardsiKIAA0319L
MIMi613535, gene
neXtProtiNX_Q8IZA0
OpenTargetsiENSG00000142687
Orphaneti220402, Limited cutaneous systemic sclerosis
536, Systemic lupus erythematosus
PharmGKBiPA142671625
VEuPathDBiHostDB:ENSG00000142687.17

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QR8M, Eukaryota
GeneTreeiENSGT00940000157613
InParanoidiQ8IZA0
OMAiRTPYVQL
OrthoDBi476157at2759
PhylomeDBiQ8IZA0
TreeFamiTF323356

Enzyme and pathway databases

PathwayCommonsiQ8IZA0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79932, 7 hits in 880 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KIAA0319L, human
EvolutionaryTraceiQ8IZA0

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79932
PharosiQ8IZA0, Tbio

Protein Ontology

More...PROi		PR:Q8IZA0
RNActiQ8IZA0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000142687, Expressed in prostate gland and 228 other tissues
ExpressionAtlasiQ8IZA0, baseline and differential
GenevisibleiQ8IZA0, HS

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
PANTHERiPTHR46182, PTHR46182, 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiK319L_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IZA0
Secondary accession number(s): B1AN13
, D3DPR8, O95010, Q6PJJ7, Q7L1C9, Q8N2B3, Q8NDA0, Q8WY39, Q8WYZ5, Q96IC3, Q96JJ0, Q9BUW6, Q9H7V0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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