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

HMBS (hydroxymethylbilane synthase)

Identity

Alias_namesPBGD
UPS
PORC
uroporphyrinogen I synthase
porphobilinogen deaminase
porphyria, acute; Chester type
Other aliasPBG-D
HGNC (Hugo) HMBS
LocusID (NCBI) 3145
Atlas_Id 55565
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 119084877 and ends at 119093549 bp from pter ( according to hg38-Dec_2013)

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)HMBS   4982
LRG (Locus Reference Genomic)LRG_1076
Cards
Entrez_Gene (NCBI)HMBS  3145  hydroxymethylbilane synthase
AliasesPBG-D; PBGD; PORC; UPS
GeneCards (Weizmann)HMBS
Ensembl hg19 (Hinxton)ENSG00000256269 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000256269 [Gene_View]  chr11:119084877-119093549 [Contig_View]  HMBS [Vega]
ICGC DataPortalENSG00000256269
TCGA cBioPortalHMBS
AceView (NCBI)HMBS
Genatlas (Paris)HMBS
WikiGenes3145
SOURCE (Princeton)HMBS
Genetics Home Reference (NIH)HMBS
Genomic and cartography
GoldenPath hg38 (UCSC)HMBS  -     chr11:119084877-119093549 +  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMBS  -     11q23.3   [Description]    (hg19-Feb_2009)
EnsemblHMBS - 11q23.3 [CytoView hg19]  HMBS - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBIHMBS [Mapview hg19]  HMBS [Mapview hg38]
OMIM176000   609806   
Gene and transcription
Genbank (Entrez)AK000628 AK131072 AK290275 AK309544 AK310343
RefSeq transcript (Entrez)NM_000190 NM_001024382 NM_001258208 NM_001258209
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMBS
Cluster EST : UnigeneHs.82609 [ NCBI ]
CGAP (NCI)Hs.82609
Alternative Splicing GalleryENSG00000256269
Gene ExpressionHMBS [ NCBI-GEO ]   HMBS [ EBI - ARRAY_EXPRESS ]   HMBS [ SEEK ]   HMBS [ MEM ]
Gene Expression Viewer (FireBrowse)HMBS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3145
GTEX Portal (Tissue expression)HMBS
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08397   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08397  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08397
Splice isoforms : SwissVarP08397
Catalytic activity : Enzyme2.5.1.61 [ Enzyme-Expasy ]   2.5.1.612.5.1.61 [ IntEnz-EBI ]   2.5.1.61 [ BRENDA ]   2.5.1.61 [ KEGG ]   
PhosPhoSitePlusP08397
Domaine pattern : Prosite (Expaxy)PORPHOBILINOGEN_DEAM (PS00533)   
Domains : Interpro (EBI)HemC    Porphobilin_deaminase_cofac_BS    Porphobilin_deaminase_N    Porphobilinogen_deaminase_C   
Domain families : Pfam (Sanger)Porphobil_deam (PF01379)    Porphobil_deamC (PF03900)   
Domain families : Pfam (NCBI)pfam01379    pfam03900   
Conserved Domain (NCBI)HMBS
DMDM Disease mutations3145
Blocks (Seattle)HMBS
PDB (SRS)3ECR    3EQ1   
PDB (PDBSum)3ECR    3EQ1   
PDB (IMB)3ECR    3EQ1   
PDB (RSDB)3ECR    3EQ1   
Structural Biology KnowledgeBase3ECR    3EQ1   
SCOP (Structural Classification of Proteins)3ECR    3EQ1   
CATH (Classification of proteins structures)3ECR    3EQ1   
SuperfamilyP08397
Human Protein AtlasENSG00000256269
Peptide AtlasP08397
HPRD01440
IPIIPI00028160   IPI00219877   IPI01013236   IPI01013863   IPI01013546   IPI01009265   IPI01012633   IPI01011378   IPI01009954   IPI01012145   IPI01010744   
Protein Interaction databases
DIP (DOE-UCLA)P08397
IntAct (EBI)P08397
FunCoupENSG00000256269
BioGRIDHMBS
STRING (EMBL)HMBS
ZODIACHMBS
Ontologies - Pathways
QuickGOP08397
Ontology : AmiGOhydroxymethylbilane synthase activity  hydroxymethylbilane synthase activity  cytoplasm  cytosol  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  heme biosynthetic process  peptidyl-pyrromethane cofactor linkage  
Ontology : EGO-EBIhydroxymethylbilane synthase activity  hydroxymethylbilane synthase activity  cytoplasm  cytosol  protoporphyrinogen IX biosynthetic process  heme biosynthetic process  heme biosynthetic process  heme biosynthetic process  peptidyl-pyrromethane cofactor linkage  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGPorphyrin and chlorophyll metabolism   
NDEx NetworkHMBS
Atlas of Cancer Signalling NetworkHMBS
Wikipedia pathwaysHMBS
Orthology - Evolution
OrthoDB3145
GeneTree (enSembl)ENSG00000256269
Phylogenetic Trees/Animal Genes : TreeFamHMBS
HOVERGENP08397
HOGENOMP08397
Homologs : HomoloGeneHMBS
Homology/Alignments : Family Browser (UCSC)HMBS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMBS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMBS
dbVarHMBS
ClinVarHMBS
1000_GenomesHMBS 
Exome Variant ServerHMBS
ExAC (Exome Aggregation Consortium)HMBS (select the gene name)
Genetic variants : HAPMAP3145
Genomic Variants (DGV)HMBS [DGVbeta]
DECIPHERHMBS [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMBS 
Mutations
ICGC Data PortalHMBS 
TCGA Data PortalHMBS 
Broad Tumor PortalHMBS
OASIS PortalHMBS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMBS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMBS
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 HMBS
DgiDB (Drug Gene Interaction Database)HMBS
DoCM (Curated mutations)HMBS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMBS (select a term)
intoGenHMBS
Cancer3DHMBS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176000    609806   
Orphanet11302   
MedgenHMBS
Genetic Testing Registry HMBS
NextProtP08397 [Medical]
TSGene3145
GENETestsHMBS
Target ValidationHMBS
Huge Navigator HMBS [HugePedia]
snp3D : Map Gene to Disease3145
BioCentury BCIQHMBS
ClinGenHMBS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3145
Chemical/Pharm GKB GenePA29317
Clinical trialHMBS
Miscellaneous
canSAR (ICR)HMBS (select the gene name)
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMBS
EVEXHMBS
GoPubMedHMBS
iHOPHMBS
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 : Wed Jun 7 12:37:03 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.