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KIAA0430 (KIAA0430)

Identity

Alias_symbol (synonym)LKAP
PPP1R34
Marf1
Other aliasMARF1
HGNC (Hugo) KIAA0430
LocusID (NCBI) 9665
Atlas_Id 53698
Location 16p13.11  [Link to chromosome band 16p13]
Location_base_pair Starts at 15688226 and ends at 15737023 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABAT (16p13.2) / KIAA0430 (16p13.11)FTO (16q12.2) / KIAA0430 (16p13.11)KIAA0430 (16p13.11) / ADA (20q13.12)
KIAA0430 (16p13.11) / ASAP1 (8q24.21)KIAA0430 (16p13.11) / IQCK (16p12.3)KIAA0430 (16p13.11) / KIAA0430 (16p13.11)
ABAT 16p13.2 / KIAA0430 16p13.11KIAA0430 16p13.11 / IQCK 16p12.3

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KIAA0430   29562
Cards
Entrez_Gene (NCBI)KIAA0430  9665  KIAA0430
AliasesLKAP; MARF1; PPP1R34
GeneCards (Weizmann)KIAA0430
Ensembl hg19 (Hinxton)ENSG00000166783 [Gene_View]  chr16:15688226-15737023 [Contig_View]  KIAA0430 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166783 [Gene_View]  chr16:15688226-15737023 [Contig_View]  KIAA0430 [Vega]
ICGC DataPortalENSG00000166783
TCGA cBioPortalKIAA0430
AceView (NCBI)KIAA0430
Genatlas (Paris)KIAA0430
WikiGenes9665
SOURCE (Princeton)KIAA0430
Genetics Home Reference (NIH)KIAA0430
Genomic and cartography
GoldenPath hg19 (UCSC)KIAA0430  -     chr16:15688226-15737023 -  16p13.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIAA0430  -     16p13.11   [Description]    (hg38-Dec_2013)
EnsemblKIAA0430 - 16p13.11 [CytoView hg19]  KIAA0430 - 16p13.11 [CytoView hg38]
Mapping of homologs : NCBIKIAA0430 [Mapview hg19]  KIAA0430 [Mapview hg38]
OMIM614593   
Gene and transcription
Genbank (Entrez)AB007890 AB012134 AK095840 AK124564 AK302667
RefSeq transcript (Entrez)NM_001184998 NM_001184999 NM_014647 NM_019081
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_021407 NT_010393 NT_187607 NW_004929400
Consensus coding sequences : CCDS (NCBI)KIAA0430
Cluster EST : UnigeneHs.173524 [ NCBI ]
CGAP (NCI)Hs.173524
Alternative Splicing GalleryENSG00000166783
Gene ExpressionKIAA0430 [ NCBI-GEO ]   KIAA0430 [ EBI - ARRAY_EXPRESS ]   KIAA0430 [ SEEK ]   KIAA0430 [ MEM ]
Gene Expression Viewer (FireBrowse)KIAA0430 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9665
GTEX Portal (Tissue expression)KIAA0430
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4F3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4F3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4F3
Splice isoforms : SwissVarQ9Y4F3
PhosPhoSitePlusQ9Y4F3
Domaine pattern : Prosite (Expaxy)HTH_OST (PS51644)    RRM (PS50102)   
Domains : Interpro (EBI)Limkain_b1_cons_dom    Marf1    Nucleotide-bd_a/b_plait    NYN_limkain-b1    OST-HTH/LOTUS_dom    PIN_domain-like    RRM_dom   
Domain families : Pfam (Sanger)Limkain-b1 (PF11608)    NYN (PF01936)    OST-HTH (PF12872)   
Domain families : Pfam (NCBI)pfam11608    pfam01936    pfam12872   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)KIAA0430
DMDM Disease mutations9665
Blocks (Seattle)KIAA0430
PDB (SRS)2DGX    2DIU   
PDB (PDBSum)2DGX    2DIU   
PDB (IMB)2DGX    2DIU   
PDB (RSDB)2DGX    2DIU   
Structural Biology KnowledgeBase2DGX    2DIU   
SCOP (Structural Classification of Proteins)2DGX    2DIU   
CATH (Classification of proteins structures)2DGX    2DIU   
SuperfamilyQ9Y4F3
Human Protein AtlasENSG00000166783
Peptide AtlasQ9Y4F3
HPRD13992
IPIIPI00828177   IPI01022424   IPI00941715   IPI00005146   IPI01021383   IPI01026042   IPI01021640   IPI01022101   IPI00942855   IPI00375814   IPI00792904   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4F3
IntAct (EBI)Q9Y4F3
FunCoupENSG00000166783
BioGRIDKIAA0430
STRING (EMBL)KIAA0430
ZODIACKIAA0430
Ontologies - Pathways
QuickGOQ9Y4F3
Ontology : AmiGOnucleotide binding  molecular_function  RNA binding  peroxisome  double-strand break repair  female meiotic division  regulation of gene expression  negative regulation of phosphatase activity  membrane  oogenesis  
Ontology : EGO-EBInucleotide binding  molecular_function  RNA binding  peroxisome  double-strand break repair  female meiotic division  regulation of gene expression  negative regulation of phosphatase activity  membrane  oogenesis  
NDEx NetworkKIAA0430
Atlas of Cancer Signalling NetworkKIAA0430
Wikipedia pathwaysKIAA0430
Orthology - Evolution
OrthoDB9665
GeneTree (enSembl)ENSG00000166783
Phylogenetic Trees/Animal Genes : TreeFamKIAA0430
HOVERGENQ9Y4F3
HOGENOMQ9Y4F3
Homologs : HomoloGeneKIAA0430
Homology/Alignments : Family Browser (UCSC)KIAA0430
Gene fusions - Rearrangements
Fusion : MitelmanABAT/KIAA0430 [16p13.2/16p13.11]  [t(16;16)(p13;p13)]  
Fusion : MitelmanKIAA0430/IQCK [16p13.11/16p12.3]  [t(16;16)(p12;p13)]  
Fusion: TCGAABAT 16p13.2 KIAA0430 16p13.11 LGG
Fusion: TCGAKIAA0430 16p13.11 IQCK 16p12.3 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIAA0430 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIAA0430
dbVarKIAA0430
ClinVarKIAA0430
1000_GenomesKIAA0430 
Exome Variant ServerKIAA0430
ExAC (Exome Aggregation Consortium)KIAA0430 (select the gene name)
Genetic variants : HAPMAP9665
Genomic Variants (DGV)KIAA0430 [DGVbeta]
DECIPHER (Syndromes)16:15688226-15737023  ENSG00000166783
CONAN: Copy Number AnalysisKIAA0430 
Mutations
ICGC Data PortalKIAA0430 
TCGA Data PortalKIAA0430 
Broad Tumor PortalKIAA0430
OASIS PortalKIAA0430 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIAA0430  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIAA0430
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 KIAA0430
DgiDB (Drug Gene Interaction Database)KIAA0430
DoCM (Curated mutations)KIAA0430 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIAA0430 (select a term)
intoGenKIAA0430
Cancer3DKIAA0430(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614593   
Orphanet
MedgenKIAA0430
Genetic Testing Registry KIAA0430
NextProtQ9Y4F3 [Medical]
TSGene9665
GENETestsKIAA0430
Huge Navigator KIAA0430 [HugePedia]
snp3D : Map Gene to Disease9665
BioCentury BCIQKIAA0430
ClinGenKIAA0430
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9665
Chemical/Pharm GKB GenePA145148631
Clinical trialKIAA0430
Miscellaneous
canSAR (ICR)KIAA0430 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIAA0430
EVEXKIAA0430
GoPubMedKIAA0430
iHOPKIAA0430
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:06:05 CEST 2017

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