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KIRREL1 (kirre like nephrin family adhesion molecule 1)

Identity

Alias_namesKIRREL
kin of IRRE like (Drosophila)
Alias_symbol (synonym)NEPH1
Other alias
HGNC (Hugo) KIRREL1
LocusID (NCBI) 55243
Atlas_Id 79331
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 157993273 and ends at 158100262 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute


External links

Nomenclature
HGNC (Hugo)KIRREL1   15734
Cards
Entrez_Gene (NCBI)KIRREL1  55243  kirre like nephrin family adhesion molecule 1
AliasesKIRREL; NEPH1
GeneCards (Weizmann)KIRREL1
Ensembl hg19 (Hinxton)ENSG00000183853 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183853 [Gene_View]  chr1:157993273-158100262 [Contig_View]  KIRREL1 [Vega]
ICGC DataPortalENSG00000183853
TCGA cBioPortalKIRREL1
AceView (NCBI)KIRREL1
Genatlas (Paris)KIRREL1
WikiGenes55243
SOURCE (Princeton)KIRREL1
Genetics Home Reference (NIH)KIRREL1
Genomic and cartography
GoldenPath hg38 (UCSC)KIRREL1  -     chr1:157993273-158100262 +  1q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIRREL1  -     1q23.1   [Description]    (hg19-Feb_2009)
EnsemblKIRREL1 - 1q23.1 [CytoView hg19]  KIRREL1 - 1q23.1 [CytoView hg38]
Mapping of homologs : NCBIKIRREL1 [Mapview hg19]  KIRREL1 [Mapview hg38]
OMIM607428   
Gene and transcription
Genbank (Entrez)AA628934 AK001707 AK022708 AK090554 AK094163
RefSeq transcript (Entrez)NM_001286349 NM_018240
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIRREL1
Cluster EST : UnigeneHs.657006 [ NCBI ]
CGAP (NCI)Hs.657006
Alternative Splicing GalleryENSG00000183853
Gene ExpressionKIRREL1 [ NCBI-GEO ]   KIRREL1 [ EBI - ARRAY_EXPRESS ]   KIRREL1 [ SEEK ]   KIRREL1 [ MEM ]
Gene Expression Viewer (FireBrowse)KIRREL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55243
GTEX Portal (Tissue expression)KIRREL1
Human Protein AtlasENSG00000183853-KIRREL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96J84   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96J84  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96J84
Splice isoforms : SwissVarQ96J84
PhosPhoSitePlusQ96J84
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)CD80_C2-set    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)C2-set_2 (PF08205)    I-set (PF07679)   
Domain families : Pfam (NCBI)pfam08205    pfam07679   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)KIRREL1
DMDM Disease mutations55243
Blocks (Seattle)KIRREL1
SuperfamilyQ96J84
Human Protein Atlas [tissue]ENSG00000183853-KIRREL1 [tissue]
Peptide AtlasQ96J84
IPIIPI00470360   IPI00470361   IPI00470362   IPI00844319   IPI00168249   
Protein Interaction databases
DIP (DOE-UCLA)Q96J84
IntAct (EBI)Q96J84
FunCoupENSG00000183853
BioGRIDKIRREL1
STRING (EMBL)KIRREL1
ZODIACKIRREL1
Ontologies - Pathways
QuickGOQ96J84
Ontology : AmiGOnegative regulation of protein phosphorylation  protein binding  plasma membrane  plasma membrane  cell-cell junction  axon guidance  excretion  integral component of membrane  myosin binding  positive regulation of actin filament polymerization  cell projection membrane  T cell costimulation  dendritic shaft  membrane raft  perinuclear region of cytoplasm  extracellular exosome  
Ontology : EGO-EBInegative regulation of protein phosphorylation  protein binding  plasma membrane  plasma membrane  cell-cell junction  axon guidance  excretion  integral component of membrane  myosin binding  positive regulation of actin filament polymerization  cell projection membrane  T cell costimulation  dendritic shaft  membrane raft  perinuclear region of cytoplasm  extracellular exosome  
NDEx NetworkKIRREL1
Atlas of Cancer Signalling NetworkKIRREL1
Wikipedia pathwaysKIRREL1
Orthology - Evolution
OrthoDB55243
GeneTree (enSembl)ENSG00000183853
Phylogenetic Trees/Animal Genes : TreeFamKIRREL1
HOVERGENQ96J84
HOGENOMQ96J84
Homologs : HomoloGeneKIRREL1
Homology/Alignments : Family Browser (UCSC)KIRREL1
Gene fusions - Rearrangements
Tumor Fusion PortalKIRREL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIRREL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIRREL1
dbVarKIRREL1
ClinVarKIRREL1
1000_GenomesKIRREL1 
Exome Variant ServerKIRREL1
ExAC (Exome Aggregation Consortium)ENSG00000183853
GNOMAD BrowserENSG00000183853
Genetic variants : HAPMAP55243
Genomic Variants (DGV)KIRREL1 [DGVbeta]
DECIPHERKIRREL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIRREL1 
Mutations
ICGC Data PortalKIRREL1 
TCGA Data PortalKIRREL1 
Broad Tumor PortalKIRREL1
OASIS PortalKIRREL1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKIRREL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KIRREL1
DgiDB (Drug Gene Interaction Database)KIRREL1
DoCM (Curated mutations)KIRREL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIRREL1 (select a term)
intoGenKIRREL1
Cancer3DKIRREL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607428   
Orphanet
DisGeNETKIRREL1
MedgenKIRREL1
Genetic Testing Registry KIRREL1
NextProtQ96J84 [Medical]
TSGene55243
GENETestsKIRREL1
Target ValidationKIRREL1
Huge Navigator KIRREL1 [HugePedia]
snp3D : Map Gene to Disease55243
BioCentury BCIQKIRREL1
ClinGenKIRREL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55243
Chemical/Pharm GKB GenePA30126
Clinical trialKIRREL1
Miscellaneous
canSAR (ICR)KIRREL1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIRREL1
EVEXKIRREL1
GoPubMedKIRREL1
iHOPKIRREL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 19:35:09 CET 2017

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