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Q8IZU9

- KIRR3_HUMAN

UniProt

Q8IZU9 - KIRR3_HUMAN

Protein

Kin of IRRE-like protein 3

Gene

KIRREL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Could be involved in the hematopoietic supportive capacity of stroma cells.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. hemopoiesis Source: UniProtKB
    2. neuron migration Source: Ensembl
    3. principal sensory nucleus of trigeminal nerve development Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_23832. Nephrin interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kin of IRRE-like protein 3
    Alternative name(s):
    Kin of irregular chiasm-like protein 3
    Nephrin-like protein 2
    Gene namesi
    Name:KIRREL3
    Synonyms:KIAA1867, NEPH2
    ORF Names:UNQ5923/PRO4502/PRO19814
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:23204. KIRREL3.

    Subcellular locationi

    Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication

    GO - Cellular componenti

    1. axon Source: Ensembl
    2. dendritic shaft Source: Ensembl
    3. extracellular region Source: UniProtKB
    4. integral component of membrane Source: UniProtKB
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    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).
    Mental retardation, autosomal dominant 4 (MRD4) [MIM:612581]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401R → W in MRD4. 1 Publication
    VAR_054828
    Natural varianti336 – 3361R → Q in MRD4. 1 Publication
    Corresponds to variant rs114378922 [ dbSNP | Ensembl ].
    VAR_054829
    Natural varianti731 – 7311V → F in MRD4. 1 Publication
    VAR_054830

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi612581. phenotype.
    Orphaneti178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBiPA134958283.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 778757Kin of IRRE-like protein 3PRO_0000015098Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi69 ↔ 127PROSITE-ProRule annotation
    Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi170 ↔ 227PROSITE-ProRule annotation
    Glycosylationi253 – 2531N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi271 ↔ 314PROSITE-ProRule annotation
    Glycosylationi324 – 3241N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi356 ↔ 398PROSITE-ProRule annotation
    Disulfide bondi440 ↔ 499PROSITE-ProRule annotation
    Glycosylationi498 – 4981N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8IZU9.
    PRIDEiQ8IZU9.

    PTM databases

    PhosphoSiteiQ8IZU9.

    Expressioni

    Tissue specificityi

    Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli.2 Publications

    Gene expression databases

    ArrayExpressiQ8IZU9.
    BgeeiQ8IZU9.
    CleanExiHS_KIRREL3.
    GenevestigatoriQ8IZU9.

    Organism-specific databases

    HPAiHPA053324.

    Interactioni

    Subunit structurei

    Interacts with the C-terminus of NPHS2/podocin. Interacts with CASK.2 Publications

    Protein-protein interaction databases

    STRINGi9606.ENSP00000278934.

    Structurei

    Secondary structure

    1
    778
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi422 – 4254
    Beta strandi440 – 4423
    Beta strandi449 – 4579
    Beta strandi462 – 4654
    Beta strandi468 – 4758
    Beta strandi478 – 4847
    Helixi490 – 4945
    Beta strandi497 – 5026
    Beta strandi507 – 5126

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2CRYNMR-A413-521[»]
    ProteinModelPortaliQ8IZU9.
    SMRiQ8IZU9. Positions 49-521.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8IZU9.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 535514ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini557 – 778222CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei536 – 55621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini48 – 14295Ig-like C2-type 1Add
    BLAST
    Domaini147 – 24397Ig-like C2-type 2Add
    BLAST
    Domaini249 – 33082Ig-like C2-type 3Add
    BLAST
    Domaini335 – 41581Ig-like C2-type 4Add
    BLAST
    Domaini419 – 51597Ig-like C2-type 5Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi701 – 76767Ser-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the immunoglobulin superfamily.Curated

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG295274.
    HOGENOMiHOG000020211.
    HOVERGENiHBG052260.
    InParanoidiQ8IZU9.
    OMAiQIICKAS.
    OrthoDBiEOG7K3TKB.
    PhylomeDBiQ8IZU9.
    TreeFamiTF327139.

    Family and domain databases

    Gene3Di2.60.40.10. 5 hits.
    InterProiIPR013162. CD80_C2-set.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    [Graphical view]
    PfamiPF08205. C2-set_2. 1 hit.
    PF07679. I-set. 3 hits.
    [Graphical view]
    SMARTiSM00409. IG. 3 hits.
    SM00408. IGc2. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IZU9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKPFQLDLLF VCFFLFSQEL GLQKRGCCLV LGYMAKDKFR RMNEGQVYSF    50
    SQQPQDQVVV SGQPVTLLCA IPEYDGFVLW IKDGLALGVG RDLSSYPQYL 100
    VVGNHLSGEH HLKILRAELQ DDAVYECQAI QAAIRSRPAR LTVLVPPDDP 150
    VILGGPVISL RAGDPLNLTC HADNAKPAAS IIWLRKGEVI NGATYSKTLL 200
    RDGKRESIVS TLFISPGDVE NGQSIVCRAT NKAIPGGKET SVTIDIQHPP 250
    LVNLSVEPQP VLEDNVVTFH CSAKANPAVT QYRWAKRGQI IKEASGEVYR 300
    TTVDYTYFSE PVSCEVTNAL GSTNLSRTVD VYFGPRMTTE PQSLLVDLGS 350
    DAIFSCAWTG NPSLTIVWMK RGSGVVLSNE KTLTLKSVRQ EDAGKYVCRA 400
    VVPRVGAGER EVTLTVNGPP IISSTQTQHA LHGEKGQIKC FIRSTPPPDR 450
    IAWSWKENVL ESGTSGRYTV ETISTEEGVI STLTISNIVR ADFQTIYNCT 500
    AWNSFGSDTE IIRLKEQGSE MKSGAGLEAE SVPMAVIIGV AVGAGVAFLV 550
    LMATIVAFCC ARSQRNLKGV VSAKNDIRVE IVHKEPASGR EGEEHSTIKQ 600
    LMMDRGEFQQ DSVLKQLEVL KEEEKEFQNL KDPTNGYYSV NTFKEHHSTP 650
    TISLSSCQPD LRPAGKQRVP TGMSFTNIYS TLSGQGRLYD YGQRFVLGMG 700
    SSSIELCERE FQRGSLSDSS SFLDTQCDSS VSSSGKQDGY VQFDKASKAS 750
    ASSSHHSQSS SQNSDPSRPL QRRMQTHV 778
    Length:778
    Mass (Da):85,255
    Last modified:March 1, 2003 - v1
    Checksum:i8AD1694D3B376B0A
    GO
    Isoform 2 (identifier: Q8IZU9-2) [UniParc]FASTAAdd to Basket

    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

    Sequence cautioni

    The sequence AAQ89120.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB47496.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401R → W in MRD4. 1 Publication
    VAR_054828
    Natural varianti336 – 3361R → Q in MRD4. 1 Publication
    Corresponds to variant rs114378922 [ dbSNP | Ensembl ].
    VAR_054829
    Natural varianti731 – 7311V → F in MRD4. 1 Publication
    VAR_054830

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei566 – 60035NLKGV…STIKQ → STGGRSGISGRGTEKKARLR LPRRASKQECNEQGS in isoform 2. 1 PublicationVSP_011799Add
    BLAST
    Alternative sequencei601 – 778178Missing in isoform 2. 1 PublicationVSP_011800Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    UniGeneiHs.376015.

    Genome annotation databases

    EnsembliENST00000525144; ENSP00000435466; ENSG00000149571. [Q8IZU9-1]
    ENST00000525704; ENSP00000435094; ENSG00000149571. [Q8IZU9-2]
    GeneIDi84623.
    KEGGihsa:84623.
    UCSCiuc001qea.3. human. [Q8IZU9-1]
    uc001qec.1. human. [Q8IZU9-2]

    Polymorphism databases

    DMDMi55736065.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS53723.1. [Q8IZU9-1 ]
    CCDS55796.1. [Q8IZU9-2 ]
    RefSeqi NP_001155179.1. NM_001161707.1. [Q8IZU9-2 ]
    NP_115920.1. NM_032531.3. [Q8IZU9-1 ]
    UniGenei Hs.376015.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2CRY NMR - A 413-521 [» ]
    ProteinModelPortali Q8IZU9.
    SMRi Q8IZU9. Positions 49-521.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000278934.

    PTM databases

    PhosphoSitei Q8IZU9.

    Polymorphism databases

    DMDMi 55736065.

    Proteomic databases

    PaxDbi Q8IZU9.
    PRIDEi Q8IZU9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000525144 ; ENSP00000435466 ; ENSG00000149571 . [Q8IZU9-1 ]
    ENST00000525704 ; ENSP00000435094 ; ENSG00000149571 . [Q8IZU9-2 ]
    GeneIDi 84623.
    KEGGi hsa:84623.
    UCSCi uc001qea.3. human. [Q8IZU9-1 ]
    uc001qec.1. human. [Q8IZU9-2 ]

    Organism-specific databases

    CTDi 84623.
    GeneCardsi GC11M126326.
    HGNCi HGNC:23204. KIRREL3.
    HPAi HPA053324.
    MIMi 607761. gene.
    612581. phenotype.
    neXtProti NX_Q8IZU9.
    Orphaneti 178469. Autosomal dominant nonsyndromic intellectual disability.
    PharmGKBi PA134958283.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG295274.
    HOGENOMi HOG000020211.
    HOVERGENi HBG052260.
    InParanoidi Q8IZU9.
    OMAi QIICKAS.
    OrthoDBi EOG7K3TKB.
    PhylomeDBi Q8IZU9.
    TreeFami TF327139.

    Enzyme and pathway databases

    Reactomei REACT_23832. Nephrin interactions.

    Miscellaneous databases

    EvolutionaryTracei Q8IZU9.
    GeneWikii KIRREL3.
    GenomeRNAii 84623.
    NextBioi 74516.
    PROi Q8IZU9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IZU9.
    Bgeei Q8IZU9.
    CleanExi HS_KIRREL3.
    Genevestigatori Q8IZU9.

    Family and domain databases

    Gene3Di 2.60.40.10. 5 hits.
    InterProi IPR013162. CD80_C2-set.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    [Graphical view ]
    Pfami PF08205. C2-set_2. 1 hit.
    PF07679. I-set. 3 hits.
    [Graphical view ]
    SMARTi SM00409. IG. 3 hits.
    SM00408. IGc2. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "NEPH1 defines a novel family of podocin interacting proteins."
      Sellin L., Huber T.B., Gerke P., Quack I., Pavenstaedt H., Walz G.
      FASEB J. 17:115-117(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INTERACTION WITH NPHS2.
      Tissue: Brain.
    2. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 491-778 (ISOFORM 1).
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    5. "Solution structure of the fifth Ig-like domain of human kin of IRRE-like 3."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 413-521.
    6. Cited for: VARIANTS MRD4 TRP-40; GLN-336 AND PHE-731, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CASK, CHROMOSOMAL TRANSLOCATION WITH CDH15.

    Entry informationi

    Entry nameiKIRR3_HUMAN
    AccessioniPrimary (citable) accession number: Q8IZU9
    Secondary accession number(s): Q3MIJ7
    , Q6UWJ9, Q6UWL5, Q96JG0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2004
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 111 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3