Kirrel1 kirre like nephrin family adhesion molecule 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kirrel1provided by MGI
Official Full Name: kirre like nephrin family adhesion molecule 1provided by MGI
Primary source: MGI:MGI:1891396
See related: Ensembl:ENSMUSG00000041734 AllianceGenome:MGI:1891396
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Neph1; Kirrel; 6720469N11Rik
Summary: Predicted to enable cell adhesion molecule binding activity and myosin binding activity. Acts upstream of or within several processes, including excretion; negative regulation of protein phosphorylation; and positive regulation of actin filament polymerization. Located in cell-cell junction; dendritic shaft; and plasma membrane. Is expressed in craniocervical region bone; glomerular tuft; lung; nervous system; and sensory organ. 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: Broad expression in limb E14.5 (RPKM 16.4), subcutaneous fat pad adult (RPKM 10.9) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 38.18 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (86985900..87082084, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (87078593..87174777, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair.
Title: Phosphorylation of slit diaphragm proteins NEPHRIN and NEPH1 upon binding of HGF promotes podocyte repair.
KIRREL was overexpressed in gastric cancer.
Title: Overexpression of Kin of IRRE-Like Protein 1 (KIRREL) in Gastric Cancer and Its Clinical Prognostic Significance.
Here we demonstrate that Neph1, Neph2, and Neph3 are expressed differentially in various tissues during ontogenesis in mouse and chicken.
Title: Comparative analysis of Neph gene expression in mouse and chicken development.
Neph1-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity
Title: Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity.
Nephrin-Neph1 complex transduces phosphorylation-mediated signals that assemble an actin polymerization complex at the podocyte intercellular junction.
Title: Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization.
Analysis of five promoter-reporter gene constructs showed that regulatory elements driving expression encoded by exon 1A in kidney and brain are localized in region between -4 kb and 2.1 kb.
Title: Alternatively used promoters and distinct elements direct tissue-specific expression of nephrin.
In the adult brain, Neph1 is seen in the olfactory nerve layer and the glomerular layer of the olfactory bulb, in the hippocampus, and in cerebellar Purkinje cells. At the ultrastructural level, Neph1 is seen in dendritic shafts of pyramidal neurons.
Title: Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis.
Fyn catalyzes Nephrin phosphorylation in podocyte detergent-resistant membrane fractions.
Title: Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin.
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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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Gene trapped (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3Mit155 (e-PCR), detects polymorphism
- UniSTS:129566

D3Mit155.1 (e-PCR), detects polymorphism
- UniSTS:129567

PMC164293P3 (e-PCR)
- UniSTS:271484

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

Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell-cell adhesion	IGI Inferred from Genetic Interaction more info	PubMed
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	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of actin filament polymerization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within renal protein absorption	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection membrane	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
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_001170985.2 → NP_001164456.1 kin of IRRE-like protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001164456.1

Status: VALIDATED

Source sequence(s)

AC102115

Consensus CDS

CCDS17450.1

UniProtKB/Swiss-Prot

Q80W68, Q8CIJ4, Q8CJ59, Q923L4

Related

ENSMUSP00000103243.3, ENSMUST00000107618.9

Conserved Domains (4) 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:423 → 520

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

pfam13927
Location:340 → 405

Ig_3; Immunoglobulin domain

cl11960
Location:54 → 148

Ig; Immunoglobulin domain
NM_001377046.1 → NP_001363975.1 kin of IRRE-like protein 1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC102115

Conserved Domains (4) 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:396 → 493

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

pfam13927
Location:313 → 378

Ig_3; Immunoglobulin domain

cl11960
Location:27 → 121

Ig; Immunoglobulin domain
NM_130867.4 → NP_570937.2 kin of IRRE-like protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_570937.2

Status: VALIDATED

Source sequence(s)

AC102115

Consensus CDS

CCDS17450.1

UniProtKB/Swiss-Prot

Q80W68, Q8CIJ4, Q8CJ59, Q923L4

Related

ENSMUSP00000125525.2, ENSMUST00000159976.8

Conserved Domains (4) 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:423 → 520

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

pfam13927
Location:340 → 405

Ig_3; Immunoglobulin domain

cl11960
Location:54 → 148

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

86985900..87082084 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240029.2 → XP_011238331.1 kin of IRRE-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011238331.1

Conserved Domains (4) 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)

pfam13927
Location:340 → 421

Ig_3; Immunoglobulin domain

cl11960
Location:54 → 148

Ig; Immunoglobulin domain
XM_006501076.5 → XP_006501139.1 kin of IRRE-like protein 1 isoform X2

Conserved Domains (4) 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)

pfam13927
Location:313 → 394

Ig_3; Immunoglobulin domain

cl11960
Location:27 → 121

Ig; Immunoglobulin domain
XM_011240028.4 → XP_011238330.1 kin of IRRE-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_011238330.1

Conserved Domains (4) 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)

pfam13927
Location:340 → 421

Ig_3; Immunoglobulin domain

cl11960
Location:54 → 148

Ig; Immunoglobulin domain
XM_017319471.3 → XP_017174960.1 kin of IRRE-like protein 1 isoform X3

Conserved Domains (4) summary

cd05759
Location:77 → 158

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

cd05898
Location:346 → 443

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

pfam13927
Location:247 → 328

Ig_3; Immunoglobulin domain

cl11960
Location:162 → 243

Ig; Immunoglobulin domain