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UniProtKB - Q5VV43 (K0319_HUMAN)

Entry version 155 (07 Apr 2021)
Sequence version 1 (07 Dec 2004)
Previous versions | rss
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Protein

Dyslexia-associated protein KIAA0319

Gene

KIAA0319

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

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.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

Molecular functionDevelopmental protein
Biological processNeurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5VV43

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis

<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
<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:KIAA0319
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21580, KIAA0319

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609269, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5VV43

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000137261.13

<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

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 domaini21 – 955ExtracellularSequence analysisAdd BLAST935
<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>Transmembranei956 – 976HelicalSequence analysisAdd BLAST21
Topological domaini977 – 1072CytoplasmicSequence analysisAdd BLAST96

Keywords - Cellular componenti

Cell membrane, Endosome, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dyslexia 2 (DYX2)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi995Y → A: Loss of interaction with AP2M1 and impaired endocytosis. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		9856

MalaCards human disease database

More...MalaCardsi		KIAA0319
MIMi600202, phenotype

Open Targets

More...OpenTargetsi		ENSG00000137261

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134936721

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5VV43, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIAA0319

Domain mapping of disease mutations (DMDM)

More...DMDMi		74747200

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Sequence analysisAdd BLAST20
<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_000004294621 – 1072Dyslexia-associated protein KIAA0319Add BLAST1052

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>Glycosylationi196N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi219N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi262N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi394N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi421N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi513N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi536N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi551N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi733N-linked (GlcNAc...) asparagineSequence analysis1

<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.1 Publication
O-glycosylated.1 Publication
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.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5VV43

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5VV43

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5VV43

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

More...PaxDbi		Q5VV43

PeptideAtlas

More...PeptideAtlasi		Q5VV43

PRoteomics IDEntifications database

More...PRIDEi		Q5VV43

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		25518
65441 [Q5VV43-1]
65442 [Q5VV43-2]
65443 [Q5VV43-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q5VV43, 10 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5VV43

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

More...PhosphoSitePlusi		Q5VV43

<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

Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.2 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000137261, Expressed in middle temporal gyrus and 123 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5VV43, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5VV43, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000137261, Tissue enriched (brain)

<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

Homodimer.

Interacts with AP2M1; required for clathrin-mediated endocytosis.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115190, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q5VV43, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367459

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5VV43, 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

11072
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		Q5VV43

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		Q5VV43

<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>Domaini21 – 99MANSCPROSITE-ProRule annotationAdd BLAST79
Domaini341 – 427PKD 1PROSITE-ProRule annotationAdd BLAST87
Domaini435 – 524PKD 2PROSITE-ProRule annotationAdd BLAST90
Domaini530 – 620PKD 3PROSITE-ProRule annotationAdd BLAST91
Domaini621 – 714PKD 4PROSITE-ProRule annotationAdd BLAST94
Domaini720 – 811PKD 5PROSITE-ProRule annotationAdd BLAST92

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi995 – 998Endocytosis signal4

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR8M, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161462

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009448_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5VV43

Identification of Orthologs from Complete Genome Data

More...OMAi		WSVFYVT

Database of Orthologous Groups

More...OrthoDBi		476157at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5VV43

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
IPR003961, FN3_dom
IPR013783, Ig-like_fold
IPR029865, KIAA0319-like
IPR013980, MANSC_dom
IPR011106, MANSC_N
IPR022409, PKD/Chitinase_dom
IPR002859, PKD/REJ-like
IPR000601, PKD_dom
IPR035986, PKD_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR46182, PTHR46182, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02010, REJ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00060, FN3, 4 hits
SM00765, MANEC, 1 hit
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 (4+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VV43-1) [UniParc]FASTAAdd to basket
Also known as: A

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
MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH 
        60         70         80         90        100
TFPVVDCTAA CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL 
       110        120        130        140        150
TFVLRPVQRP AQLLDYGDMM LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL 
       160        170        180        190        200
EEMSEYSDDY RELEKDLLQP SGKQEPRGSA EYTDWGLLPG SEGAFNSSVG 
       210        220        230        240        250
DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT TPSSGEVLEK 
       260        270        280        290        300
EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST 
       310        320        330        340        350
EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN 
       360        370        380        390        400
EVELKAFVAP APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV 
       410        420        430        440        450
GLYVFKVTVS SENAFGEGFV NVTVKPARRV NLPPVAVVSP QLQELTLPLT 
       460        470        480        490        500
SALIDGSQST DDTEIVSYHW EEINGPFIEE KTSVDSPVLR LSNLDPGNYS 
       510        520        530        540        550
FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT LPQNSITLNG 
       560        570        580        590        600
NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK 
       610        620        630        640        650
VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS 
       660        670        680        690        700
DDHGIVFYHW EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG 
       710        720        730        740        750
LSSTSTLTVA VKKENNSPPR ARAGGRHVLV LPNNSITLDG SRSTDDQRIV 
       760        770        780        790        800
SYLWIRDGQS PAAGDVIDGS DHSVALQLTN LVEGVYTFHL RVTDSQGASD 
       810        820        830        840        850
TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ LAVLLNVLDS 
       860        870        880        890        900
DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF 
       910        920        930        940        950
LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES 
       960        970        980        990       1000
NCEWSIFYVT VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN 
      1010       1020       1030       1040       1050
MDEQERMELR PKYGIKHRST EHNSSLMVSE SEFDSDQDTI FSREKMERGN 
      1060       1070 
PKVSMNGSIR NGASFSYCSK DR
Length:1,072
Mass (Da):117,763
Last modified:December 7, 2004 - v1
<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:i94F33B03E7FE8C0F
GO
Isoform 2 (identifier: Q5VV43-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MAPPTGVLSSLLLLVTIAG → MTRLGWPSPC

Show »
Length:1,063
Mass (Da):117,057
Checksum:i144EC867C3FD7CD5
GO
Isoform 3 (identifier: Q5VV43-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.

Show »
Length:1,027
Mass (Da):113,047
Checksum:i27D81BD05C976D80
GO
Isoform 4 (identifier: Q5VV43-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     953-1013: Missing.

Show »
Length:1,011
Mass (Da):110,370
Checksum:i6B875CD6ED56D253
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0U9A0A087X0U9_HUMAN
Dyslexia-associated protein KIAA031...
KIAA0319
483Annotation 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 BAA20777 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti97R → S in BAG58068 (PubMed:14702039).Curated1
Sequence conflicti157S → A in BAA20777 (PubMed:9205841).Curated1
Sequence conflicti157S → A in AAI52461 (PubMed:15489334).Curated1
Sequence conflicti256L → H in BAG59087 (PubMed:14702039).Curated1
Sequence conflicti926L → I in AAI44629 (PubMed:15489334).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_023837142T → P3 PublicationsCorresponds to variant dbSNP:rs4576240Ensembl.1
Natural variantiVAR_023838311A → T May be associated with susceptibility to dyslexia. 3 PublicationsCorresponds to variant dbSNP:rs4504469Ensembl.1
Natural variantiVAR_049505567G → S. Corresponds to variant dbSNP:rs2744559Ensembl.1
Natural variantiVAR_049506773S → G. Corresponds to variant dbSNP:rs2744550Ensembl.1
Natural variantiVAR_049507774V → A. Corresponds to variant dbSNP:rs2817191Ensembl.1
Natural variantiVAR_034032919G → A. Corresponds to variant dbSNP:rs10946705EnsemblClinVar.1
Natural variantiVAR_0495081013Y → C. Corresponds to variant dbSNP:rs807534Ensembl.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_0362341 – 45Missing in isoform 3. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_0362351 – 19MAPPT…VTIAG → MTRLGWPSPC in isoform 2. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_044971953 – 1013Missing in isoform 4. CuratedAdd 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
AB002317 mRNA Translation: BAA20777.2 Different initiation.
AK295008 mRNA Translation: BAG58068.1
AK296310 mRNA Translation: BAG59008.1
AK296426 mRNA Translation: BAG59087.1
AL512385 Genomic DNA No translation available.
AL031230 Genomic DNA No translation available.
BC140821 mRNA Translation: AAI40822.1
BC144628 mRNA Translation: AAI44629.1
BC152460 mRNA Translation: AAI52461.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34348.1 [Q5VV43-1]
CCDS54969.1 [Q5VV43-3]
CCDS54970.1 [Q5VV43-2]
CCDS54971.1 [Q5VV43-4]

NCBI Reference Sequences

More...RefSeqi		NP_001161846.1, NM_001168374.1 [Q5VV43-2]
NP_001161847.1, NM_001168375.1 [Q5VV43-1]
NP_001161848.1, NM_001168376.1 [Q5VV43-3]
NP_001161849.1, NM_001168377.1 [Q5VV43-4]
NP_055624.2, NM_014809.3 [Q5VV43-1]
XP_011513327.1, XM_011515025.2
XP_011513328.1, XM_011515026.2 [Q5VV43-3]
XP_016867030.1, XM_017011541.1 [Q5VV43-2]
XP_016867034.1, XM_017011545.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378214; ENSP00000367459; ENSG00000137261 [Q5VV43-1]
ENST00000430948; ENSP00000401086; ENSG00000137261 [Q5VV43-3]
ENST00000535378; ENSP00000442403; ENSG00000137261 [Q5VV43-2]
ENST00000537886; ENSP00000439700; ENSG00000137261 [Q5VV43-4]
ENST00000543707; ENSP00000437656; ENSG00000137261 [Q5VV43-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9856

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9856

UCSC genome browser

More...UCSCi		uc003neh.2, human [Q5VV43-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

The twisted way of things - Issue 125 of January 2011

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002317 mRNA Translation: BAA20777.2 Different initiation.
AK295008 mRNA Translation: BAG58068.1
AK296310 mRNA Translation: BAG59008.1
AK296426 mRNA Translation: BAG59087.1
AL512385 Genomic DNA No translation available.
AL031230 Genomic DNA No translation available.
BC140821 mRNA Translation: AAI40822.1
BC144628 mRNA Translation: AAI44629.1
BC152460 mRNA Translation: AAI52461.1
CCDSiCCDS34348.1 [Q5VV43-1]
CCDS54969.1 [Q5VV43-3]
CCDS54970.1 [Q5VV43-2]
CCDS54971.1 [Q5VV43-4]
RefSeqiNP_001161846.1, NM_001168374.1 [Q5VV43-2]
NP_001161847.1, NM_001168375.1 [Q5VV43-1]
NP_001161848.1, NM_001168376.1 [Q5VV43-3]
NP_001161849.1, NM_001168377.1 [Q5VV43-4]
NP_055624.2, NM_014809.3 [Q5VV43-1]
XP_011513327.1, XM_011515025.2
XP_011513328.1, XM_011515026.2 [Q5VV43-3]
XP_016867030.1, XM_017011541.1 [Q5VV43-2]
XP_016867034.1, XM_017011545.1

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
2E7MNMR-A329-428[»]
SMRiQ5VV43
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115190, 4 interactors
IntActiQ5VV43, 5 interactors
STRINGi9606.ENSP00000367459

PTM databases

GlyGeniQ5VV43, 10 sites
iPTMnetiQ5VV43
PhosphoSitePlusiQ5VV43

Genetic variation databases

BioMutaiKIAA0319
DMDMi74747200

Proteomic databases

jPOSTiQ5VV43
MassIVEiQ5VV43
MaxQBiQ5VV43
PaxDbiQ5VV43
PeptideAtlasiQ5VV43
PRIDEiQ5VV43
ProteomicsDBi25518
65441 [Q5VV43-1]
65442 [Q5VV43-2]
65443 [Q5VV43-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2465, 120 antibodies

Genome annotation databases

EnsembliENST00000378214; ENSP00000367459; ENSG00000137261 [Q5VV43-1]
ENST00000430948; ENSP00000401086; ENSG00000137261 [Q5VV43-3]
ENST00000535378; ENSP00000442403; ENSG00000137261 [Q5VV43-2]
ENST00000537886; ENSP00000439700; ENSG00000137261 [Q5VV43-4]
ENST00000543707; ENSP00000437656; ENSG00000137261 [Q5VV43-1]
GeneIDi9856
KEGGihsa:9856
UCSCiuc003neh.2, human [Q5VV43-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9856
DisGeNETi9856

GeneCards: human genes, protein and diseases

More...GeneCardsi		KIAA0319
HGNCiHGNC:21580, KIAA0319
HPAiENSG00000137261, Tissue enriched (brain)
MalaCardsiKIAA0319
MIMi600202, phenotype
609269, gene
neXtProtiNX_Q5VV43
OpenTargetsiENSG00000137261
PharmGKBiPA134936721
VEuPathDBiHostDB:ENSG00000137261.13

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QR8M, Eukaryota
GeneTreeiENSGT00940000161462
HOGENOMiCLU_009448_0_1_1
InParanoidiQ5VV43
OMAiWSVFYVT
OrthoDBi476157at2759
PhylomeDBiQ5VV43
TreeFamiTF323356

Enzyme and pathway databases

PathwayCommonsiQ5VV43
ReactomeiR-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9856, 6 hits in 981 CRISPR screens

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

More...ChiTaRSi		KIAA0319, human
EvolutionaryTraceiQ5VV43

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KIAA0319

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

More...GenomeRNAii		9856
PharosiQ5VV43, Tbio

Protein Ontology

More...PROi		PR:Q5VV43
RNActiQ5VV43, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000137261, Expressed in middle temporal gyrus and 123 other tissues
ExpressionAtlasiQ5VV43, baseline and differential
GenevisibleiQ5VV43, HS

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR003961, FN3_dom
IPR013783, Ig-like_fold
IPR029865, KIAA0319-like
IPR013980, MANSC_dom
IPR011106, MANSC_N
IPR022409, PKD/Chitinase_dom
IPR002859, PKD/REJ-like
IPR000601, PKD_dom
IPR035986, PKD_dom_sf
PANTHERiPTHR46182, PTHR46182, 1 hit
PfamiView protein in Pfam
PF02010, REJ, 1 hit
SMARTiView protein in SMART
SM00060, FN3, 4 hits
SM00765, MANEC, 1 hit
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 nameiK0319_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: Q5VV43
Secondary accession number(s): A7MD37
, B2RTU7, B4DHA7, B4DK75, B7ZML3, F5H123, Q9UJC8, Q9Y4G7
<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: November 22, 2005
Last sequence update: December 7, 2004
Last modified: April 7, 2021
This is version 155 of the entry and version 1 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 6
    Human chromosome 6: 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
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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