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

Gene ID: 55243, updated on 15-Apr-2019

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
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
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

Genomic context

See KIRREL1 in Genome Data Viewer
Location:
1q23.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (157993273..158100262)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (157963063..158065846)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371458 Neighboring gene uncharacterized LOC105371459 Neighboring gene KIRREL1 intronic transcript 1 Neighboring gene uncharacterized LOC105371460 Neighboring gene long intergenic non-protein coding RNA 1704

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

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
myosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
excretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection membrane IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001286349.1NP_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, AY302131
    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
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    157993273..158100262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245305.5XP_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
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