Human Gene KIRREL1 (ENST00000359209.11_4) from GENCODE V47lift37
  Description: kirre like nephrin family adhesion molecule 1, transcript variant 1 (from RefSeq NM_018240.7)
Gencode Transcript: ENST00000359209.11_4
Gencode Gene: ENSG00000183853.18_12
Transcript (Including UTRs)
   Position: hg19 chr1:157,963,435-158,070,052 Size: 106,618 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr1:157,963,467-158,064,910 Size: 101,444 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:157,963,435-158,070,052)mRNA (may differ from genome)Protein (757 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
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MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KIRR1_HUMAN
DESCRIPTION: RecName: Full=Kin of IRRE-like protein 1; AltName: Full=Kin of irregular chiasm-like protein 1; AltName: Full=Nephrin-like protein 1; Flags: Precursor;
FUNCTION: Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity).
SUBUNIT: Interacts with TJP1/ZO-1 and with NPHS2/podocin (via the C-terminus). Interacts with NPHS1/nephrin (via the Ig-like domains); this interaction is dependent on KIRREL glycosylation. Homodimer (via the Ig-like domains). Interacts when tyrosine- phosphorylated with GRB2 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (Potential). Note=Predominantly located at podocyte slit diaphragm.
TISSUE SPECIFICITY: Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli.
PTM: Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).
PTM: N-glycosylated (By similarity).
SIMILARITY: Belongs to the immunoglobulin superfamily.
SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
SEQUENCE CAUTION: Sequence=AAP59845.1; Type=Frameshift; Positions=19; Sequence=BAA91850.1; Type=Erroneous initiation; Sequence=BAB14192.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KIRREL1
Diseases sorted by gene-association score: nephrotic syndrome (5), congenital nephrotic syndrome finnish type (4)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.54 RPKM in Cells - Cultured fibroblasts
Total median expression: 361.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.2032-0.350 Picture PostScript Text
3' UTR -1874.705142-0.365 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013162 - CD80_C2-set
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF08205 - CD80-like C2-set immunoglobulin domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49299 - PKD domain
55961 - Bet v1-like

ModBase Predicted Comparative 3D Structure on Q96J84
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017022 myosin binding

Biological Process:
GO:0001933 negative regulation of protein phosphorylation
GO:0007588 excretion
GO:0030838 positive regulation of actin filament polymerization
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031253 cell projection membrane
GO:0043198 dendritic shaft
GO:0045121 membrane raft
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AY302131 - Homo sapiens NEPH1 protein mRNA, complete cds.
BC109192 - Homo sapiens kin of IRRE like (Drosophila), mRNA (cDNA clone MGC:129542 IMAGE:40001501), complete cds.
BC109193 - Homo sapiens kin of IRRE like (Drosophila), mRNA (cDNA clone MGC:129543 IMAGE:40001502), complete cds.
AK297788 - Homo sapiens cDNA FLJ56360 complete cds, highly similar to Kin of IRRE-like protein 1 precursor.
KJ894165 - Synthetic construct Homo sapiens clone ccsbBroadEn_03559 KIRREL gene, encodes complete protein.
AY017369 - Homo sapiens NEPH1 (NEPH1) mRNA, complete cds.
AK022708 - Homo sapiens cDNA FLJ12646 fis, clone NT2RM4001987, weakly similar to NEURAL CELL ADHESION MOLECULE 1, LARGE ISOFORM PRECURSOR.
BC025268 - Homo sapiens, clone IMAGE:4860359, mRNA, partial cds.
AK001707 - Homo sapiens cDNA FLJ10845 fis, clone NT2RP4001372, weakly similar to IRREGULAR CHIASM C-ROUGHEST PROTEIN PRECURSOR.
BC051356 - Homo sapiens kin of IRRE like (Drosophila), mRNA (cDNA clone IMAGE:6599107), partial cds.
BC067097 - Homo sapiens kin of IRRE like (Drosophila), mRNA (cDNA clone IMAGE:6579791), partial cds.
BC082969 - Homo sapiens kin of IRRE like (Drosophila), mRNA (cDNA clone IMAGE:6585270), partial cds.
JD068411 - Sequence 49435 from Patent EP1572962.
JD152042 - Sequence 133066 from Patent EP1572962.
JD402852 - Sequence 383876 from Patent EP1572962.
JD198538 - Sequence 179562 from Patent EP1572962.
JD153454 - Sequence 134478 from Patent EP1572962.
JD455016 - Sequence 436040 from Patent EP1572962.
JD270669 - Sequence 251693 from Patent EP1572962.
JD134642 - Sequence 115666 from Patent EP1572962.
JD193601 - Sequence 174625 from Patent EP1572962.
JD264392 - Sequence 245416 from Patent EP1572962.
JD289750 - Sequence 270774 from Patent EP1572962.
JD305535 - Sequence 286559 from Patent EP1572962.
JD428569 - Sequence 409593 from Patent EP1572962.
JD411203 - Sequence 392227 from Patent EP1572962.
JD455689 - Sequence 436713 from Patent EP1572962.
JD487772 - Sequence 468796 from Patent EP1572962.
JD096918 - Sequence 77942 from Patent EP1572962.
JD418406 - Sequence 399430 from Patent EP1572962.
JD466893 - Sequence 447917 from Patent EP1572962.
AK090554 - Homo sapiens cDNA FLJ33235 fis, clone ASTRO2002202.
AX746507 - Sequence 32 from Patent EP1308459.
JD051065 - Sequence 32089 from Patent EP1572962.
JD240390 - Sequence 221414 from Patent EP1572962.
JD122515 - Sequence 103539 from Patent EP1572962.
JD189570 - Sequence 170594 from Patent EP1572962.
JD278912 - Sequence 259936 from Patent EP1572962.
JD347655 - Sequence 328679 from Patent EP1572962.
JD064150 - Sequence 45174 from Patent EP1572962.
JD064672 - Sequence 45696 from Patent EP1572962.
AB464781 - Synthetic construct DNA, clone: pF1KB9790, Homo sapiens FLJ33235 gene, without stop codon, in Flexi system.
AK096361 - Homo sapiens cDNA FLJ39042 fis, clone NT2RP7010110.
JD434380 - Sequence 415404 from Patent EP1572962.
JD299127 - Sequence 280151 from Patent EP1572962.
AK098412 - Homo sapiens cDNA FLJ25546 fis, clone JTH01457.
JD532705 - Sequence 513729 from Patent EP1572962.
JD328501 - Sequence 309525 from Patent EP1572962.
JD311214 - Sequence 292238 from Patent EP1572962.
JD470681 - Sequence 451705 from Patent EP1572962.
JD039363 - Sequence 20387 from Patent EP1572962.
JD469025 - Sequence 450049 from Patent EP1572962.
JD044689 - Sequence 25713 from Patent EP1572962.
JD214531 - Sequence 195555 from Patent EP1572962.
AK094163 - Homo sapiens cDNA FLJ36844 fis, clone ASTRO2012601.
JD290312 - Sequence 271336 from Patent EP1572962.
JD256243 - Sequence 237267 from Patent EP1572962.
JD166664 - Sequence 147688 from Patent EP1572962.
JD102839 - Sequence 83863 from Patent EP1572962.
JD524415 - Sequence 505439 from Patent EP1572962.
JD303576 - Sequence 284600 from Patent EP1572962.
JD536030 - Sequence 517054 from Patent EP1572962.
JD251100 - Sequence 232124 from Patent EP1572962.
JD222133 - Sequence 203157 from Patent EP1572962.
JD230670 - Sequence 211694 from Patent EP1572962.
JD345098 - Sequence 326122 from Patent EP1572962.
JD339741 - Sequence 320765 from Patent EP1572962.
JD219222 - Sequence 200246 from Patent EP1572962.
JD449945 - Sequence 430969 from Patent EP1572962.
JD551100 - Sequence 532124 from Patent EP1572962.
JD565340 - Sequence 546364 from Patent EP1572962.
JD300197 - Sequence 281221 from Patent EP1572962.
JD113690 - Sequence 94714 from Patent EP1572962.
JD091601 - Sequence 72625 from Patent EP1572962.
JD261988 - Sequence 243012 from Patent EP1572962.
JD432273 - Sequence 413297 from Patent EP1572962.
JD560487 - Sequence 541511 from Patent EP1572962.
JD315767 - Sequence 296791 from Patent EP1572962.
JD115708 - Sequence 96732 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96J84 (Reactome details) participates in the following event(s):

R-HSA-373714 Cis-Heterodimerization of nephrin and KIRREL
R-HSA-373722 Nephrin binds CASK
R-HSA-451377 Interaction of IQGAP1 with nephrin
R-HSA-451403 Interaction of nephrin with adherens junction-associated proteins
R-HSA-8981534 Nephrin dimer:KIRREL binds FYN
R-HSA-373747 Phosphorylation of nephrin by FYN
R-HSA-373724 Nephrin binds NCK
R-HSA-373727 Nephrin binds CD2AP
R-HSA-373734 Nephrin interacts with Podocin
R-HSA-532603 Nephrin mediated activation of N-WASP
R-HSA-451758 p85 associates with both p-Nephrin and CD2AP
R-HSA-373753 Nephrin family interactions
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000359209.1, ENST00000359209.10, ENST00000359209.2, ENST00000359209.3, ENST00000359209.4, ENST00000359209.5, ENST00000359209.6, ENST00000359209.7, ENST00000359209.8, ENST00000359209.9, KIRR1_HUMAN, KIRREL, KIRREL1 , NEPH1, NM_018240, Q5W0F8, Q5XKC6, Q7Z696, Q7Z7N8, Q8TB15, Q96J84, Q9H9N1, Q9NVA5, uc318ayf.1, uc318ayf.2
UCSC ID: ENST00000359209.11_4
RefSeq Accession: NM_018240.7
Protein: Q96J84 (aka KIRR1_HUMAN or KIR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.