Kirrel1 kirre like nephrin family adhesion molecule 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Kirrel1provided by RGD
Official Full Name: kirre like nephrin family adhesion molecule 1provided by RGD
Primary source: RGD:727883
See related: Ensembl:ENSRNOG00000016408 AllianceGenome:RGD:727883
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Neph1; Kirrel
Summary: Predicted to enable cell adhesion molecule binding activity and myosin binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within excretion; negative regulation of protein phosphorylation; and positive regulation of actin filament polymerization. Located in cell projection membrane; cell-cell junction; and membrane raft. Human ortholog(s) of this gene implicated in nephrotic syndrome type 23. Orthologous to human KIRREL1 (kirre like nephrin family adhesion molecule 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 75.1), Lung (RPKM 56.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (174819564..174912998, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (172521644..172615057, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (186420743..186515209, complement)

Chromosome 2 - NC_086020.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Irbesartan treatment ameliorates proteinuria in puromycin aminonucleoside nephropathy by inhibiting the reduction of NEPH1 and nephrin in the kidney glomerulus.
Title: Angiotensin II type 1 receptor blockade ameliorates proteinuria in puromycin aminonucleoside nephropathy by inhibiting the reduction of NEPH1 and nephrin.
rKirre may play a potential role in postnatal developing rat cerebellum.
Title: Distribution and expression of Kirre, an IgSF molecule, during postnatal development of rat cerebellum.
These results suggested that rKirre might play an essential role in neuronal differentiation and development in the central nervous system.
Title: Expression of the IgSF protein Kirre in the rat central nervous system.
The sequence of Neph1 mRNA is reported. Dissociation of NEPH1 from nephrin initiates proteinuria in focal segmental glomerulosclerosis. The resulting slit diaphragm alteration plays a critical role in the development of sclerotic changes in the disease.
Title: Dissociation of NEPH1 from nephrin is involved in development of a rat model of focal segmental glomerulosclerosis.
tyrosine phosphorylation of Neph1 mediated by Fyn results in significantly increased Neph1 and ZO-1 binding, suggesting a critical role for Neph1 tyrosine phosphorylation in reorganizing the Neph1-ZO-1 complex.
Title: Ischemic injury to kidney induces glomerular podocyte effacement and dissociation of slit diaphragm proteins Neph1 and ZO-1.
Neph1 but not nephrin specifically binds to adaptor protein Grb2 and tyrosine kinase Csk in a phosphorylation-dependent manner.
Title: Neph1, a component of the kidney slit diaphragm, is tyrosine-phosphorylated by the Src family tyrosine kinase and modulates intracellular signaling by binding to Grb2.
Fetal membranes and placenta of the rat express mRNA for the protein barriers nephrin and Neph 1, suggesting a role in the regulation of protein transfer from the fetus to mother
Title: Placental and fetal membrane Nephrin and Neph1 gene expression: response to inflammation.
Nephrin and Neph1 form a hetero-oligomeric receptor complex in the plane of the membrane that might interact across the foot process intercellular junction through interactions between Nephrin with itself and Neph1
Title: Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers.
nephrin and Neph1 interact and have roles in glomerular permeability
Title: Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.

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General gene information

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Markers

PMC164293P3 (e-PCR)
- UniSTS:271484

AU049378 (e-PCR)
- UniSTS:145825

UniSTS:234720 (e-PCR)
- UniSTS:234720

BF396370 (e-PCR)
- UniSTS:245757

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell-cell junction maintenance	ISO Inferred from Sequence Orthology more info
involved_in glomerular filtration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within renal protein absorption	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: kin of IRRE-like protein 1

Names: kin of IRRE like 1; kin of irregular chiasm-like protein 1; nephrin 1; nephrin-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_207606.2 → NP_997489.2 kin of IRRE-like protein 1 precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000002

UniProtKB/Swiss-Prot

F1M7V1, Q6X936, Q80W67

Related

ENSRNOP00000033900.1, ENSRNOT00000031743.2

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086020.1 Reference GRCr8

Range

174819564..174912998 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006232678.5 → XP_006232740.1 kin of IRRE-like protein 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JXH3

Related

ENSRNOP00000070270.1

Conserved Domains (6) summary

cd05759
Location:143 → 224

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

cd05898
Location:412 → 509

Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)

smart00410
Location:319 → 410

IG_like; Immunoglobulin like

pfam07679
Location:27 → 121

I-set; Immunoglobulin I-set domain

pfam13895
Location:313 → 410

Ig_2; Immunoglobulin domain

cl11960
Location:30 → 121

Ig; Immunoglobulin domain
XM_006232676.5 → XP_006232738.1 kin of IRRE-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006232738.1

UniProtKB/TrEMBL

A0A0G2JXH3

Conserved Domains (6) summary

cd05759
Location:170 → 251

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

cd05898
Location:439 → 536

Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)

smart00410
Location:346 → 437

IG_like; Immunoglobulin like

pfam07679
Location:54 → 148

I-set; Immunoglobulin I-set domain

pfam13895
Location:340 → 437

Ig_2; Immunoglobulin domain

cl11960
Location:57 → 148

Ig; Immunoglobulin domain
XM_006232675.5 → XP_006232737.1 kin of IRRE-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006232737.1

UniProtKB/TrEMBL

A0A0G2JXH3

Conserved Domains (6) summary

cd05759
Location:170 → 251

Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)

cd05898
Location:439 → 536

Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)

smart00410
Location:346 → 437

IG_like; Immunoglobulin like

pfam07679
Location:54 → 148

I-set; Immunoglobulin I-set domain

pfam13895
Location:340 → 437

Ig_2; Immunoglobulin domain

cl11960
Location:57 → 148

Ig; Immunoglobulin domain
XM_063281893.1 → XP_063137963.1 kin of IRRE-like protein 1 isoform X1