• Gene id: 55243

Gene Summary

• Gene Symbol: KIRREL1   Gene   UCSC   Ensembl
• Aliases: KIRREL, NEPH1
• Gene name: kirre like nephrin family adhesion molecule 1
• Alternate names: kin of IRRE-like protein 1, kin of IRRE like, kin of irregular chiasm-like protein 1, nephrin related, nephrin-like protein 1,
• Gene location: 1q23.1 (157993272: 158100261)     Exons: 15     NC_000001.11
• Gene summary(Entrez): 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 po
• OMIM: 607428

Protein Summary

• Protein general information: Q96J84  
  • Name: Kin of IRRE like protein 1 (Kin of irregular chiasm like protein 1) (Nephrin like protein 1)
  • Length: 757  
  • Mass: 83536
  • Tissue specificity: Abundantly expressed in kidney. Specifically expressed in podocytes of kidney glomeruli. {ECO
• Sequence:

  MLSLLVWILTLSDTFSQGTQTRFSQEPADQTVVAGQRAVLPCVLLNYSGIVQWTKDGLALGMGQGLKAWPRYRVV
  GSADAGQYNLEITDAELSDDASYECQATEAALRSRRAKLTVLIPPEDTRIDGGPVILLQAGTPHNLTCRAFNAKP
  AATIIWFRDGTQQEGAVASTELLKDGKRETTVSQLLINPTDLDIGRVFTCRSMNEAIPSGKETSIELDVHHPPTV
  TLSIEPQTVQEGERVVFTCQATANPEILGYRWAKGGFLIEDAHESRYETNVDYSFFTEPVSCEVHNKVGSTNVST
  LVNVHFAPRIVVDPKPTTTDIGSDVTLTCVWVGNPPLTLTWTKKDSNMVLSNSNQLLLKSVTQADAGTYTCRAIV
  PRIGVAEREVPLYVNGPPIISSEAVQYAVRGDGGKVECFIGSTPPPDRIAWAWKENFLEVGTLERYTVERTNSGS
  GVLSTLTINNVMEADFQTHYNCTAWNSFGPGTAIIQLEEREVLPVGIIAGATIGASILLIFFFIALVFFLYRRRK
  GSRKDVTLRKLDIKVETVNREPLTMHSDREDDTASVSTATRVMKAIYSSFKDDVDLKQDLRCDTIDTREEYEMKD
  PTNGYYNVRAHEDRPSSRAVLYADYRAPGPARFDGRPSSRLSHSSGYAQLNTYSRGPASDYGPEPTPPGPAAPAG
  TDTTSQLSYENYEKFNSHPFPGAAGYPTYRLGYPQAPPSGLERTPYEAYDPIGKYATATRFSYTSQHSDYGQRFQ
  QRMQTHV

• Structural information:
  • Protein Domains: (21..11-)
    1 (/note="Ig-like-C2-type)
    (120..21-)
    2 (/note="Ig-like-C2-type)
    (223..29-)
    3 (/note="Ig-like-C2-type)
    (308..38-)
    4 (/note="Ig-like-C2-type)
    (392..48-)
    5" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  
  • Prosite: PS50835
  • STRING: ENSP00000352138
• Other Databases: GeneCards:  KIRREL1  Malacards:  KIRREL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0007588	excretion	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0031253	cell projection membrane	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0017022	myosin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq