KIRREL1 kirre like nephrin family adhesion molecule 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIRREL1provided by HGNC
Official Full Name: kirre like nephrin family adhesion molecule 1provided by HGNC
Primary source: HGNC:HGNC:15734
See related: Ensembl:ENSG00000183853 MIM:607428; AllianceGenome:HGNC:15734
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEPH1; KIRREL; NPHS23
Summary: NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in placenta (RPKM 3.8), gall bladder (RPKM 3.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (157993645..158100262)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (157130739..157237353)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (157963435..158070052)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIRREL promotes the proliferation of gastric cancer cells and angiogenesis through the PI3K/AKT/mTOR pathway.
Title: KIRREL promotes the proliferation of gastric cancer cells and angiogenesis through the PI3K/AKT/mTOR pathway.
Transmembrane protein KIRREL1 regulates Hippo signaling via a feedback loop and represents a therapeutic target in YAP/TAZ-active cancers.
Title: Transmembrane protein KIRREL1 regulates Hippo signaling via a feedback loop and represents a therapeutic target in YAP/TAZ-active cancers.
Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites.
Title: Cell adhesion molecule KIRREL1 is a feedback regulator of Hippo signaling recruiting SAV1 to cell-cell contact sites.
Overexpression of kin of IRRE-Like protein 1 (KIRREL) as a prognostic biomarker for breast cancer.
Title: Overexpression of kin of IRRE-Like protein 1 (KIRREL) as a prognostic biomarker for breast cancer.
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Title: Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Analysis of interaction surfaces between NEPH1 and MYO1c led to the identification of a critical residue in Neph1 involved in binding to Myo1c. Indeed, a point mutant from this site abolished interaction between Neph1 and Myo1c.
Title: Structural Analysis of the Myo1c and Neph1 Complex Provides Insight into the Intracellular Movement of Neph1.
maintaining high levels of Neph1 at the membrane using a podocyte cell line overexpressing chimeric Neph1 increased the ability of podocytes to resist PAN-induced injury and PAN-induced albumin leakage
Title: Slit diaphragm protein Neph1 and its signaling: a novel therapeutic target for protection of podocytes against glomerular injury.
Neph1-CD adopts a global shape in solution, and its interaction with ZO-1 involves multiple sites.
Title: Solution structure analysis of cytoplasmic domain of podocyte protein Neph1 using small/wide angle x-ray scattering (SWAXS).
Localization of Neph1 to the podocyte cell membrane is altered in the presence of mutant Myo1c, and is actin dependent. Knockdown of Myo1c inhibits Neph1 membrane localization. Neph1 is critical for the maintenance of glomerular function.
Title: Motor protein Myo1c is a podocyte protein that facilitates the transport of slit diaphragm protein Neph1 to the podocyte membrane.
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.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nephrotic syndrome, type 23 MedGen: C5543092 OMIM: 619201 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KIRREL__6520 (e-PCR)
- UniSTS:464012

SHGC-81641 (e-PCR)
- UniSTS:103852

Clone Names

FLJ10845, FLJ25546, FLJ36844, FLJ39042, MGC129542, MGC129543

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin binding	IPI Inferred from Physical Interaction more info	PubMed
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
involved_in cell-cell junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glomerular filtration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in renal protein absorption	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection membrane	IEA Inferred from Electronic Annotation 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 dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	TAS Traceable Author Statement more info

General protein information

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Preferred Names: kin of IRRE-like protein 1

Names: kin of IRRE like; kin of irregular chiasm-like protein 1; nephrin related; 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_001286349.2 → NP_001273278.1 kin of IRRE-like protein 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001273278.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AA628934, AK297788, AL139010

Consensus CDS

CCDS72952.1

UniProtKB/TrEMBL

B4DN67, Q5W0G0

Related

ENSP00000357155.4, ENST00000368173.7

Conserved Domains (5) summary

cd05759
Location:38 → 119

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

cd05898
Location:291 → 388

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

smart00410
Location:214 → 289

IG_like; Immunoglobulin like

pfam07679
Location:123 → 204

I-set; Immunoglobulin I-set domain

pfam13895
Location:211 → 289

Ig_2; Immunoglobulin domain
NM_018240.7 → NP_060710.3 kin of IRRE-like protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_060710.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA628934, AL139010, BC109192

Consensus CDS

CCDS1172.2

UniProtKB/Swiss-Prot

Q5W0F8, Q5XKC6, Q7Z696, Q7Z7N8, Q8TB15, Q96J84, Q9H9N1, Q9NVA5

UniProtKB/TrEMBL

Q5W0G0

Related

ENSP00000352138.6, ENST00000359209.11

Conserved Domains (4) summary

cd05759
Location:138 → 219

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

cd05898
Location:391 → 488

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

pfam13927
Location:308 → 373

Ig_3; Immunoglobulin domain

cl28434
Location:22 → 116

I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

157993645..158100262

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424310.1 → XP_047280266.1 kin of IRRE-like protein 1 isoform X2

Related

ENSP00000353202.4, ENST00000360089.8
XM_005245305.6 → XP_005245362.1 kin of IRRE-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_005245362.1

UniProtKB/TrEMBL

Q5W0G0

Conserved Domains (6) summary

cd05759
Location:138 → 219

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

cd05898
Location:407 → 504

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

smart00410
Location:314 → 405

IG_like; Immunoglobulin like

pfam07679
Location:22 → 116

I-set; Immunoglobulin I-set domain

pfam13895
Location:311 → 405

Ig_2; Immunoglobulin domain

cl11960
Location:25 → 116

Ig; Immunoglobulin domain
XM_047424312.1 → XP_047280268.1 kin of IRRE-like protein 1 isoform X2