Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8IZU9 (KIRR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kin of IRRE-like protein 3
Alternative name(s):
Kin of irregular chiasm-like protein 3
Nephrin-like protein 2
Gene names
Name:KIRREL3
Synonyms:KIAA1867, NEPH2
ORF Names:UNQ5923/PRO4502/PRO19814
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length778 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with the C-terminus of NPHS2/podocin. Interacts with CASK. Ref.1 Ref.6

Subcellular location

Cell membrane; Single-pass type I membrane protein Ref.6.

Tissue specificity

Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli. Ref.1 Ref.6

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the immunoglobulin superfamily.

Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

Sequence caution

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

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IZU9-1)

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.
Isoform 2 (identifier: Q8IZU9-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 778757Kin of IRRE-like protein 3
PRO_0000015098

Regions

Topological domain22 – 535514Extracellular Potential
Transmembrane536 – 55621Helical; Potential
Topological domain557 – 778222Cytoplasmic Potential
Domain48 – 14295Ig-like C2-type 1
Domain147 – 24397Ig-like C2-type 2
Domain249 – 33082Ig-like C2-type 3
Domain335 – 41581Ig-like C2-type 4
Domain419 – 51597Ig-like C2-type 5
Compositional bias701 – 76767Ser-rich

Amino acid modifications

Glycosylation1671N-linked (GlcNAc...) Potential
Glycosylation2531N-linked (GlcNAc...) Potential
Glycosylation3241N-linked (GlcNAc...) Potential
Glycosylation4981N-linked (GlcNAc...) Potential
Disulfide bond69 ↔ 127 By similarity
Disulfide bond170 ↔ 227 By similarity
Disulfide bond271 ↔ 314 By similarity
Disulfide bond356 ↔ 398 By similarity
Disulfide bond440 ↔ 499 By similarity

Natural variations

Alternative sequence566 – 60035NLKGV…STIKQ → STGGRSGISGRGTEKKARLR LPRRASKQECNEQGS in isoform 2.
VSP_011799
Alternative sequence601 – 778178Missing in isoform 2.
VSP_011800
Natural variant401R → W in MRD4. Ref.6
VAR_054828
Natural variant3361R → Q in MRD4. Ref.6
Corresponds to variant rs114378922 [ dbSNP | Ensembl ].
VAR_054829
Natural variant7311V → F in MRD4. Ref.6
VAR_054830

Secondary structure

................... 778
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 8AD1694D3B376B0A

FASTA77885,255
        10         20         30         40         50         60 
MKPFQLDLLF VCFFLFSQEL GLQKRGCCLV LGYMAKDKFR RMNEGQVYSF SQQPQDQVVV 

        70         80         90        100        110        120 
SGQPVTLLCA IPEYDGFVLW IKDGLALGVG RDLSSYPQYL VVGNHLSGEH HLKILRAELQ 

       130        140        150        160        170        180 
DDAVYECQAI QAAIRSRPAR LTVLVPPDDP VILGGPVISL RAGDPLNLTC HADNAKPAAS 

       190        200        210        220        230        240 
IIWLRKGEVI NGATYSKTLL RDGKRESIVS TLFISPGDVE NGQSIVCRAT NKAIPGGKET 

       250        260        270        280        290        300 
SVTIDIQHPP LVNLSVEPQP VLEDNVVTFH CSAKANPAVT QYRWAKRGQI IKEASGEVYR 

       310        320        330        340        350        360 
TTVDYTYFSE PVSCEVTNAL GSTNLSRTVD VYFGPRMTTE PQSLLVDLGS DAIFSCAWTG 

       370        380        390        400        410        420 
NPSLTIVWMK RGSGVVLSNE KTLTLKSVRQ EDAGKYVCRA VVPRVGAGER EVTLTVNGPP 

       430        440        450        460        470        480 
IISSTQTQHA LHGEKGQIKC FIRSTPPPDR IAWSWKENVL ESGTSGRYTV ETISTEEGVI 

       490        500        510        520        530        540 
STLTISNIVR ADFQTIYNCT AWNSFGSDTE IIRLKEQGSE MKSGAGLEAE SVPMAVIIGV 

       550        560        570        580        590        600 
AVGAGVAFLV LMATIVAFCC ARSQRNLKGV VSAKNDIRVE IVHKEPASGR EGEEHSTIKQ 

       610        620        630        640        650        660 
LMMDRGEFQQ DSVLKQLEVL KEEEKEFQNL KDPTNGYYSV NTFKEHHSTP TISLSSCQPD 

       670        680        690        700        710        720 
LRPAGKQRVP TGMSFTNIYS TLSGQGRLYD YGQRFVLGMG SSSIELCERE FQRGSLSDSS 

       730        740        750        760        770 
SFLDTQCDSS VSSSGKQDGY VQFDKASKAS ASSSHHSQSS SQNSDPSRPL QRRMQTHV 

« Hide

Isoform 2 [UniParc].

Checksum: 67D52A6373036380
Show »

FASTA60065,308

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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]"Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability."
Bhalla K., Luo Y., Buchan T., Beachem M.A., Guzauskas G.F., Ladd S., Bratcher S.J., Schroer R.J., Balsamo J., DuPont B.R., Lilien J., Srivastava A.K.
Am. J. Hum. Genet. 83:703-713(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MRD4 TRP-40; GLN-336 AND PHE-731, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CASK, CHROMOSOMAL TRANSLOCATION WITH CDH15.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53723.1. [Q8IZU9-1]
CCDS55796.1. [Q8IZU9-2]
RefSeqNP_001155179.1. NM_001161707.1. [Q8IZU9-2]
NP_115920.1. NM_032531.3. [Q8IZU9-1]
UniGeneHs.376015.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CRYNMR-A413-521[»]
ProteinModelPortalQ8IZU9.
SMRQ8IZU9. Positions 49-521.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000278934.

PTM databases

PhosphoSiteQ8IZU9.

Polymorphism databases

DMDM55736065.

Proteomic databases

PaxDbQ8IZU9.
PRIDEQ8IZU9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000525144; ENSP00000435466; ENSG00000149571. [Q8IZU9-1]
ENST00000525704; ENSP00000435094; ENSG00000149571. [Q8IZU9-2]
GeneID84623.
KEGGhsa:84623.
UCSCuc001qea.3. human. [Q8IZU9-1]
uc001qec.1. human. [Q8IZU9-2]

Organism-specific databases

CTD84623.
GeneCardsGC11M126326.
HGNCHGNC:23204. KIRREL3.
HPAHPA053324.
MIM607761. gene.
612581. phenotype.
neXtProtNX_Q8IZU9.
Orphanet178469. Autosomal dominant nonsyndromic intellectual disability.
PharmGKBPA134958283.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG295274.
HOGENOMHOG000020211.
HOVERGENHBG052260.
InParanoidQ8IZU9.
OMAQIICKAS.
OrthoDBEOG7K3TKB.
PhylomeDBQ8IZU9.
TreeFamTF327139.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.

Gene expression databases

ArrayExpressQ8IZU9.
BgeeQ8IZU9.
CleanExHS_KIRREL3.
GenevestigatorQ8IZU9.

Family and domain databases

Gene3D2.60.40.10. 5 hits.
InterProIPR013162. CD80_C2-set.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF08205. C2-set_2. 1 hit.
PF07679. I-set. 3 hits.
[Graphical view]
SMARTSM00409. IG. 3 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ8IZU9.
GeneWikiKIRREL3.
GenomeRNAi84623.
NextBio74516.
PROQ8IZU9.
SOURCESearch...

Entry information

Entry nameKIRR3_HUMAN
AccessionPrimary (citable) accession number: Q8IZU9
Secondary accession number(s): Q3MIJ7 expand/collapse secondary AC list , Q6UWJ9, Q6UWL5, Q96JG0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2004
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM