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

Gene ID: 55243, updated on 22-Sep-2022

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
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Genomic context

See KIRREL1 in Genome Data Viewer
Location:
1q23.1
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (157993645..158100262)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (157130739..157237353)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (157963435..158070052)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371458 Neighboring gene uncharacterized LOC105371459 Neighboring gene Sharpr-MPRA regulatory region 389 Neighboring gene KIRREL1 intronic transcript 1 Neighboring gene long intergenic non-protein coding RNA 1704 Neighboring gene small integral membrane protein 42

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
PubMed 
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 negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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

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)

NEW Try the new Transcript table

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)

  1. NM_001286349.2NP_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/Swiss-Prot
    Q96J84
    UniProtKB/TrEMBL
    B4DN67
    Related
    ENSP00000357155.4, ENST00000368173.7
    Conserved Domains (5) summary
    cd05759
    Location:38119
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:291388
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    smart00410
    Location:214289
    IG_like; Immunoglobulin like
    pfam07679
    Location:123204
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:211289
    Ig_2; Immunoglobulin domain
  2. NM_018240.7NP_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
    Q96J84, Q9NVA5
    Related
    ENSP00000352138.6, ENST00000359209.11
    Conserved Domains (4) summary
    cd05759
    Location:138219
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:391488
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    pfam13927
    Location:308373
    Ig_3; Immunoglobulin domain
    cl28434
    Location:22116
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    157993645..158100262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    See identical proteins and their annotated locations for XP_005245362.1

    UniProtKB/Swiss-Prot
    Q96J84
    Conserved Domains (6) summary
    cd05759
    Location:138219
    Ig2_KIRREL3-like; Second immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 (also known as Neph2)
    cd05898
    Location:407504
    Ig5_KIRREL3; Fifth immunoglobulin (Ig)-like domain of Kirrel (kin of irregular chiasm-like) 3 protein (also known as Neph2)
    smart00410
    Location:314405
    IG_like; Immunoglobulin like
    pfam07679
    Location:22116
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:311405
    Ig_2; Immunoglobulin domain
    cl11960
    Location:25116
    Ig; Immunoglobulin domain
  3. XM_047424312.1XP_047280268.1  kin of IRRE-like protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    157130739..157237353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)