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Q8IZU9

- KIRR3_HUMAN

UniProt

Q8IZU9 - KIRR3_HUMAN

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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

Functioni

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

GO - Biological processi

  1. hemopoiesis Source: UniProtKB
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 535514ExtracellularSequence AnalysisAdd
BLAST
Transmembranei536 – 55621HelicalSequence AnalysisAdd
BLAST
Topological domaini557 – 778222CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. extracellular region Source: UniProtKB
  2. integral component of membrane Source: UniProtKB
  3. plasma membrane Source: Reactome
Complete GO annotation...

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 non-syndromic 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

BgeeiQ8IZU9.
CleanExiHS_KIRREL3.
ExpressionAtlasiQ8IZU9. baseline and differential.
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 – 4254Combined sources
Beta strandi440 – 4423Combined sources
Beta strandi449 – 4579Combined sources
Beta strandi462 – 4654Combined sources
Beta strandi468 – 4758Combined sources
Beta strandi478 – 4847Combined sources
Helixi490 – 4945Combined sources
Beta strandi497 – 5026Combined sources
Beta strandi507 – 5126Combined sources

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiQ8IZU9.

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.
GeneTreeiENSGT00550000074545.
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

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

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:
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]
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:
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 .
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:
PDBei
RCSB PDBi
PDBji
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 GC11M126293.
HGNCi HGNC:23204. KIRREL3.
HPAi HPA053324.
MIMi 607761. gene.
612581. phenotype.
neXtProti NX_Q8IZU9.
Orphaneti 178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBi PA134958283.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG295274.
GeneTreei ENSGT00550000074545.
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

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

Gene expression databases

Bgeei Q8IZU9.
CleanExi HS_KIRREL3.
ExpressionAtlasi Q8IZU9. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 113 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