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UniProtKB - Q8IZU9 (KIRR3_HUMAN)

Protein

Kin of IRRE-like protein 3

Gene

KIRREL3

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

Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.By similarity

<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

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-373753 Nephrin family interactions

<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_and_taxonomy_section">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:
Kin of IRRE-like protein 3
Alternative name(s):
Kin of irregular chiasm-like protein 3
Nephrin-like protein 21 Publication
Cleaved into the following chain:
Processed kin of IRRE-like protein 3By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:KIRREL3Imported
Synonyms:KIAA18671 Publication, NEPH21 Publication
ORF Names:UNQ5923/PRO4502/PRO198141 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000149571.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:23204 KIRREL3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607761 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IZU9

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 domaini22 – 535ExtracellularSequence analysisAdd BLAST514
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei536 – 556HelicalSequence analysisAdd BLAST21
Topological domaini557 – 778CytoplasmicSequence analysisAdd BLAST222

<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>Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<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

A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		84623

MalaCards human disease database

More...MalaCardsi		KIRREL3

Open Targets

More...OpenTargetsi		ENSG00000149571

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

More...Orphaneti		178469 Autosomal dominant non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134958283

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIRREL3

Domain mapping of disease mutations (DMDM)

More...DMDMi		55736065

<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 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001509822 – 778Kin of IRRE-like protein 3Add BLAST757
ChainiPRO_000043579922 – ?Processed kin of IRRE-like protein 3By similarity

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi69 ↔ 127PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi167N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi170 ↔ 227PROSITE-ProRule annotation
Glycosylationi253N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi271 ↔ 314PROSITE-ProRule annotation
Glycosylationi324N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi356 ↔ 398PROSITE-ProRule annotation
Disulfide bondi440 ↔ 499PROSITE-ProRule annotation
Glycosylationi498N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Undergoes proteolysis by a metalloprotease and gives rise to a soluble form.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...PaxDbi		Q8IZU9

PeptideAtlas

More...PeptideAtlasi		Q8IZU9

PRoteomics IDEntifications database

More...PRIDEi		Q8IZU9

ProteomicsDB human proteome resource

More...ProteomicsDBi		71433
71434 [Q8IZU9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IZU9

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

More...PhosphoSitePlusi		Q8IZU9

<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 fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000149571 Expressed in 122 organ(s), highest expression level in brain

CleanEx database of gene expression profiles

More...CleanExi		HS_KIRREL3

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IZU9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IZU9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA053324
HPA056320

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; mediates homophilic interactions to promote cell adhesion. Interacts with NPHS1; forms heterodimers with NPHS1 (By similarity). Interacts with NPHS2/podocin (via the C-terminus) (PubMed:12424224). Interacts with CASK (PubMed:19012874). Interacts (via extracellular region) with MAP1B (PubMed:25902260). Interacts (via extracellular region) with MYO16 (PubMed:25902260). Interacts (via intracellular region) with ATP1B1 (PubMed:25902260). Interacts (via intracellular region) with SHMT2 (PubMed:25902260). Interacts (via intracellular region) with UFC1 (PubMed:25902260).By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

Protein interaction database and analysis system

More...IntActi		Q8IZU9, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000435466

<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

1778
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8IZU9

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

More...SMRi		Q8IZU9

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q8IZU9

<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_and_domains_section">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>Domaini48 – 142Ig-like C2-type 1Add BLAST95
Domaini147 – 243Ig-like C2-type 2Add BLAST97
Domaini249 – 330Ig-like C2-type 3Add BLAST82
Domaini335 – 415Ig-like C2-type 4Add BLAST81
Domaini419 – 515Ig-like C2-type 5Add BLAST97

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi701 – 767Ser-richAdd BLAST67

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3510 Eukaryota
ENOG410XPX0 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157126

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000020211

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG052260

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IZU9

Identification of Orthologs from Complete Genome Data

More...OMAi		VFSCAWT

Database of Orthologous Groups

More...OrthoDBi		EOG091G02BJ

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IZU9

TreeFam database of animal gene trees

More...TreeFami		TF327139

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
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07679 I-set, 2 hits
PF13895 Ig_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409 IG, 4 hits
SM00408 IGc2, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726 SSF48726, 5 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50835 IG_LIKE, 5 hits

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IZU9-1) [UniParc]FASTAAdd to basket
Also known as: Kirrel3 A1 Publication

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
MKPFQLDLLF VCFFLFSQEL GLQKRGCCLV LGYMAKDKFR RMNEGQVYSF 
        60         70         80         90        100
SQQPQDQVVV SGQPVTLLCA IPEYDGFVLW IKDGLALGVG RDLSSYPQYL 
       110        120        130        140        150
VVGNHLSGEH HLKILRAELQ DDAVYECQAI QAAIRSRPAR LTVLVPPDDP 
       160        170        180        190        200
VILGGPVISL RAGDPLNLTC HADNAKPAAS IIWLRKGEVI NGATYSKTLL 
       210        220        230        240        250
RDGKRESIVS TLFISPGDVE NGQSIVCRAT NKAIPGGKET SVTIDIQHPP 
       260        270        280        290        300
LVNLSVEPQP VLEDNVVTFH CSAKANPAVT QYRWAKRGQI IKEASGEVYR 
       310        320        330        340        350
TTVDYTYFSE PVSCEVTNAL GSTNLSRTVD VYFGPRMTTE PQSLLVDLGS 
       360        370        380        390        400
DAIFSCAWTG NPSLTIVWMK RGSGVVLSNE KTLTLKSVRQ EDAGKYVCRA 
       410        420        430        440        450
VVPRVGAGER EVTLTVNGPP IISSTQTQHA LHGEKGQIKC FIRSTPPPDR 
       460        470        480        490        500
IAWSWKENVL ESGTSGRYTV ETISTEEGVI STLTISNIVR ADFQTIYNCT 
       510        520        530        540        550
AWNSFGSDTE IIRLKEQGSE MKSGAGLEAE SVPMAVIIGV AVGAGVAFLV 
       560        570        580        590        600
LMATIVAFCC ARSQRNLKGV VSAKNDIRVE IVHKEPASGR EGEEHSTIKQ 
       610        620        630        640        650
LMMDRGEFQQ DSVLKQLEVL KEEEKEFQNL KDPTNGYYSV NTFKEHHSTP 
       660        670        680        690        700
TISLSSCQPD LRPAGKQRVP TGMSFTNIYS TLSGQGRLYD YGQRFVLGMG 
       710        720        730        740        750
SSSIELCERE FQRGSLSDSS SFLDTQCDSS VSSSGKQDGY VQFDKASKAS 
       760        770 
ASSSHHSQSS SQNSDPSRPL QRRMQTHV
Length:778
Mass (Da):85,255
Last modified:March 1, 2003 - 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:i8AD1694D3B376B0A
GO
Isoform 2 (identifier: Q8IZU9-2) [UniParc]FASTAAdd to basket
Also known as: Kirrel3 B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     566-600: NLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQ → STGGRSGISGRGTEKKARLRLPRRASKQECNEQGS
     601-778: Missing.

Show »
Length:600
Mass (Da):65,308
Checksum:i67D52A6373036380
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
E9PRX9E9PRX9_HUMAN
Kin of IRRE-like protein 3
KIRREL3
766Annotation 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 AAQ89120 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB47496 differs from that shown. Reason: Erroneous initiation.Curated

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_05482840R → W Found in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119462978EnsemblClinVar.1
Natural variantiVAR_054829336R → Q Found in patients with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114378922EnsemblClinVar.1
Natural variantiVAR_054830731V → F Found in a patient with mental retardation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs119462980EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_011799566 – 600NLKGV…STIKQ → STGGRSGISGRGTEKKARLR LPRRASKQECNEQGS in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_011800601 – 778Missing in isoform 2. 1 PublicationAdd BLAST178

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
AF480410 mRNA Translation: AAN73042.1
AB058770 mRNA Translation: BAB47496.1 Different initiation.
AY358743 mRNA Translation: AAQ89103.1
AY358760 mRNA Translation: AAQ89120.1 Different initiation.
BC101775 mRNA Translation: AAI01776.1
BC101801 mRNA Translation: AAI01802.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53723.1 [Q8IZU9-1]
CCDS55796.1 [Q8IZU9-2]

NCBI Reference Sequences

More...RefSeqi		NP_001155179.1, NM_001161707.1 [Q8IZU9-2]
NP_115920.1, NM_032531.3 [Q8IZU9-1]
XP_011541333.1, XM_011543031.2 [Q8IZU9-1]
XP_016873909.1, XM_017018420.1 [Q8IZU9-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.376015

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000525144; ENSP00000435466; ENSG00000149571 [Q8IZU9-1]
ENST00000525704; ENSP00000435094; ENSG00000149571 [Q8IZU9-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84623

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84623

UCSC genome browser

More...UCSCi		uc001qea.4 human [Q8IZU9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<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
AF480410 mRNA Translation: AAN73042.1
AB058770 mRNA Translation: BAB47496.1 Different initiation.
AY358743 mRNA Translation: AAQ89103.1
AY358760 mRNA Translation: AAQ89120.1 Different initiation.
BC101775 mRNA Translation: AAI01776.1
BC101801 mRNA Translation: AAI01802.1
CCDSiCCDS53723.1 [Q8IZU9-1]
CCDS55796.1 [Q8IZU9-2]
RefSeqiNP_001155179.1, NM_001161707.1 [Q8IZU9-2]
NP_115920.1, NM_032531.3 [Q8IZU9-1]
XP_011541333.1, XM_011543031.2 [Q8IZU9-1]
XP_016873909.1, XM_017018420.1 [Q8IZU9-1]
UniGeneiHs.376015

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
2CRYNMR-A413-521[»]
ProteinModelPortaliQ8IZU9
SMRiQ8IZU9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IZU9, 7 interactors
STRINGi9606.ENSP00000435466

PTM databases

iPTMnetiQ8IZU9
PhosphoSitePlusiQ8IZU9

Polymorphism and mutation databases

BioMutaiKIRREL3
DMDMi55736065

Proteomic databases

PaxDbiQ8IZU9
PeptideAtlasiQ8IZU9
PRIDEiQ8IZU9
ProteomicsDBi71433
71434 [Q8IZU9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000525144; ENSP00000435466; ENSG00000149571 [Q8IZU9-1]
ENST00000525704; ENSP00000435094; ENSG00000149571 [Q8IZU9-2]
GeneIDi84623
KEGGihsa:84623
UCSCiuc001qea.4 human [Q8IZU9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84623
DisGeNETi84623
EuPathDBiHostDB:ENSG00000149571.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		KIRREL3
HGNCiHGNC:23204 KIRREL3
HPAiHPA053324
HPA056320
MalaCardsiKIRREL3
MIMi607761 gene
neXtProtiNX_Q8IZU9
OpenTargetsiENSG00000149571
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA134958283

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3510 Eukaryota
ENOG410XPX0 LUCA
GeneTreeiENSGT00940000157126
HOGENOMiHOG000020211
HOVERGENiHBG052260
InParanoidiQ8IZU9
OMAiVFSCAWT
OrthoDBiEOG091G02BJ
PhylomeDBiQ8IZU9
TreeFamiTF327139

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions

Miscellaneous databases

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

More...ChiTaRSi		KIRREL3 human
EvolutionaryTraceiQ8IZU9

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KIRREL3

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

More...GenomeRNAii		84623

Protein Ontology

More...PROi		PR:Q8IZU9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000149571 Expressed in 122 organ(s), highest expression level in brain
CleanExiHS_KIRREL3
ExpressionAtlasiQ8IZU9 baseline and differential
GenevisibleiQ8IZU9 HS

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF07679 I-set, 2 hits
PF13895 Ig_2, 1 hit
SMARTiView protein in SMART
SM00409 IG, 4 hits
SM00408 IGc2, 3 hits
SUPFAMiSSF48726 SSF48726, 5 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiKIRR3_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: Q8IZU9
Secondary accession number(s): Q3MIJ7
, Q6UWJ9, Q6UWL5, Q96JG0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: March 1, 2003
Last modified: December 5, 2018
This is version 142 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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