Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HHAT (hedgehog acyltransferase)

Identity

Alias_symbol (synonym)FLJ10724
MART-2
MART2
Skn
ski
rasp
sit
GUP2
Other aliasSKI1
HGNC (Hugo) HHAT
LocusID (NCBI) 55733
Atlas_Id 41301
Location 1q32.2  [Link to chromosome band 1q32]
Location_base_pair Starts at 210328252 and ends at 210676296 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HHAT (1q32.2) / CD34 (1q32.2)HHAT (1q32.2) / DESI2 (1q44)HHAT (1q32.2) / KCNH1 (1q32.2)
HHAT (1q32.2) / KIF5B (10p11.22)HHAT (1q32.2) / RFWD2 (1q25.1)HHAT (1q32.2) / SERTAD4 (1q32.2)
KIF5B (10p11.22) / HHAT (1q32.2)NFAT5 (16q22.1) / HHAT (1q32.2)HHAT 1q32.2 / CD34 1q32.2
HHAT 1q32.2 / KIF5B 10p11.22HHAT 1q32.2 PPPDE1HHAT 1q32.2 / RFWD2 1q25.1
HHAT 1q32.2 / SERTAD4 1q32.2KIF5B 10p11.22 / HHAT 1q32.2NFAT5 16q22.1 / HHAT 1q32.2

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)HHAT   18270
Cards
Entrez_Gene (NCBI)HHAT  55733  hedgehog acyltransferase
AliasesMART2; SKI1; Skn
GeneCards (Weizmann)HHAT
Ensembl hg19 (Hinxton)ENSG00000054392 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000054392 [Gene_View]  chr1:210328252-210676296 [Contig_View]  HHAT [Vega]
ICGC DataPortalENSG00000054392
TCGA cBioPortalHHAT
AceView (NCBI)HHAT
Genatlas (Paris)HHAT
WikiGenes55733
SOURCE (Princeton)HHAT
Genetics Home Reference (NIH)HHAT
Genomic and cartography
GoldenPath hg38 (UCSC)HHAT  -     chr1:210328252-210676296 +  1q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HHAT  -     1q32.2   [Description]    (hg19-Feb_2009)
EnsemblHHAT - 1q32.2 [CytoView hg19]  HHAT - 1q32.2 [CytoView hg38]
Mapping of homologs : NCBIHHAT [Mapview hg19]  HHAT [Mapview hg38]
OMIM605743   
Gene and transcription
Genbank (Entrez)AK001586 AK092186 AK295130 AK297193 AK298991
RefSeq transcript (Entrez)NM_001122834 NM_001170564 NM_001170580 NM_001170587 NM_001170588 NM_018194
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HHAT
Cluster EST : UnigeneHs.58650 [ NCBI ]
CGAP (NCI)Hs.58650
Alternative Splicing GalleryENSG00000054392
Gene ExpressionHHAT [ NCBI-GEO ]   HHAT [ EBI - ARRAY_EXPRESS ]   HHAT [ SEEK ]   HHAT [ MEM ]
Gene Expression Viewer (FireBrowse)HHAT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55733
GTEX Portal (Tissue expression)HHAT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VTY9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VTY9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VTY9
Splice isoforms : SwissVarQ5VTY9
Catalytic activity : Enzyme2.3.1.- [ Enzyme-Expasy ]   2.3.1.-2.3.1.- [ IntEnz-EBI ]   2.3.1.- [ BRENDA ]   2.3.1.- [ KEGG ]   
PhosPhoSitePlusQ5VTY9
Domains : Interpro (EBI)HHAT    MBOAT_fam   
Domain families : Pfam (Sanger)MBOAT (PF03062)   
Domain families : Pfam (NCBI)pfam03062   
Conserved Domain (NCBI)HHAT
DMDM Disease mutations55733
Blocks (Seattle)HHAT
SuperfamilyQ5VTY9
Human Protein AtlasENSG00000054392
Peptide AtlasQ5VTY9
HPRD12041
IPIIPI00018902   IPI00163890   IPI00657747   IPI00923457   IPI01015179   IPI01015862   IPI00922056   IPI01013447   
Protein Interaction databases
DIP (DOE-UCLA)Q5VTY9
IntAct (EBI)Q5VTY9
FunCoupENSG00000054392
BioGRIDHHAT
STRING (EMBL)HHAT
ZODIACHHAT
Ontologies - Pathways
QuickGOQ5VTY9
Ontology : AmiGOGTP binding  endoplasmic reticulum membrane  smoothened signaling pathway  multicellular organism development  O-acyltransferase activity  integral component of membrane  palmitoyltransferase activity  protein palmitoylation  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBIGTP binding  endoplasmic reticulum membrane  smoothened signaling pathway  multicellular organism development  O-acyltransferase activity  integral component of membrane  palmitoyltransferase activity  protein palmitoylation  positive regulation of protein targeting to mitochondrion  
NDEx NetworkHHAT
Atlas of Cancer Signalling NetworkHHAT
Wikipedia pathwaysHHAT
Orthology - Evolution
OrthoDB55733
GeneTree (enSembl)ENSG00000054392
Phylogenetic Trees/Animal Genes : TreeFamHHAT
HOVERGENQ5VTY9
HOGENOMQ5VTY9
Homologs : HomoloGeneHHAT
Homology/Alignments : Family Browser (UCSC)HHAT
Gene fusions - Rearrangements
Fusion : MitelmanHHAT/CD34 [1q32.2/1q32.2]  
Fusion : MitelmanHHAT/DESI2 [1q32.2/1q44]  [t(1;1)(q32;q44)]  
Fusion : MitelmanHHAT/KIF5B [1q32.2/10p11.22]  [t(1;10)(q32;p11)]  
Fusion : MitelmanHHAT/RFWD2 [1q32.2/1q25.1]  [t(1;1)(q25;q32)]  
Fusion : MitelmanHHAT/SERTAD4 [1q32.2/1q32.2]  [t(1;1)(q32;q32)]  
Fusion : MitelmanKIF5B/HHAT [10p11.22/1q32.2]  [t(1;10)(q32;p11)]  
Fusion : MitelmanNFAT5/HHAT [16q22.1/1q32.2]  [t(1;16)(q32;q22)]  
Fusion: TCGAHHAT 1q32.2 CD34 1q32.2 BRCA
Fusion: TCGAHHAT 1q32.2 KIF5B 10p11.22 PRAD
Fusion: TCGAHHAT 1q32.2 PPPDE1 LUSC
Fusion: TCGAHHAT 1q32.2 RFWD2 1q25.1 BRCA
Fusion: TCGAHHAT 1q32.2 SERTAD4 1q32.2 BRCA
Fusion: TCGAKIF5B 10p11.22 HHAT 1q32.2 PRAD
Fusion: TCGANFAT5 16q22.1 HHAT 1q32.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHHAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HHAT
dbVarHHAT
ClinVarHHAT
1000_GenomesHHAT 
Exome Variant ServerHHAT
ExAC (Exome Aggregation Consortium)HHAT (select the gene name)
Genetic variants : HAPMAP55733
Genomic Variants (DGV)HHAT [DGVbeta]
DECIPHERHHAT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHHAT 
Mutations
ICGC Data PortalHHAT 
TCGA Data PortalHHAT 
Broad Tumor PortalHHAT
OASIS PortalHHAT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHHAT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHHAT
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 HHAT
DgiDB (Drug Gene Interaction Database)HHAT
DoCM (Curated mutations)HHAT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HHAT (select a term)
intoGenHHAT
Cancer3DHHAT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605743   
Orphanet606   
MedgenHHAT
Genetic Testing Registry HHAT
NextProtQ5VTY9 [Medical]
TSGene55733
GENETestsHHAT
Target ValidationHHAT
Huge Navigator HHAT [HugePedia]
snp3D : Map Gene to Disease55733
BioCentury BCIQHHAT
ClinGenHHAT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55733
Chemical/Pharm GKB GenePA134926499
Clinical trialHHAT
Miscellaneous
canSAR (ICR)HHAT (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHHAT
EVEXHHAT
GoPubMedHHAT
iHOPHHAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:11:26 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.