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HMBS (hydroxymethylbilane synthase)

Identity

Alias (NCBI)PBG-D
PBGD
PORC
UPS
HGNC (Hugo) HMBS
HGNC Previous namePBGD
 UPS
 PORC
HGNC Previous nameuroporphyrinogen I synthase
 porphobilinogen deaminase
 porphyria, acute; Chester type
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)
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

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)HMBS   4982
LRG (Locus Reference Genomic)LRG_1076
Cards
Entrez_Gene (NCBI)HMBS    hydroxymethylbilane synthase
AliasesPBG-D; PBGD; PORC; UPS
GeneCards (Weizmann)HMBS
Ensembl hg19 (Hinxton)ENSG00000256269 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000256269 [Gene_View]  ENSG00000256269 [Sequence]  chr11:119084877-119093549 [Contig_View]  HMBS [Vega]
ICGC DataPortalENSG00000256269
TCGA cBioPortalHMBS
AceView (NCBI)HMBS
Genatlas (Paris)HMBS
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)
GoldenPathHMBS - 11q23.3 [CytoView hg19]  HMBS - 11q23.3 [CytoView hg38]
ImmunoBaseENSG00000256269
Genome Data Viewer NCBIHMBS [Mapview hg19]  
OMIM176000   609806   
Gene and transcription
Genbank (Entrez)AA724756 AK000628 AK131072 AK290275 AK309544
RefSeq transcript (Entrez)NM_000190 NM_001024382 NM_001258208 NM_001258209
Consensus coding sequences : CCDS (NCBI)HMBS
Gene ExpressionHMBS [ NCBI-GEO ]   HMBS [ EBI - ARRAY_EXPRESS ]   HMBS [ SEEK ]   HMBS [ MEM ]
Gene Expression Viewer (FireBrowse)HMBS [ Firebrowse - Broad ]
GenevisibleExpression of HMBS in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3145
GTEX Portal (Tissue expression)HMBS
Human Protein AtlasENSG00000256269-HMBS [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusP08397
Domaine pattern : Prosite (Expaxy)PORPHOBILINOGEN_DEAM (PS00533)   
Domains : Interpro (EBI)HemC    Porphobilin_deaminase_cofac_BS    Porphobilin_deaminase_N    Porphobilinogen_deaminase_C    Porphobilinogen_deaminase_C_sf   
Domain families : Pfam (Sanger)Porphobil_deam (PF01379)    Porphobil_deamC (PF03900)   
Domain families : Pfam (NCBI)pfam01379    pfam03900   
Conserved Domain (NCBI)HMBS
PDB (RSDB)3ECR    3EQ1    5M6R    5M7F   
PDB Europe3ECR    3EQ1    5M6R    5M7F   
PDB (PDBSum)3ECR    3EQ1    5M6R    5M7F   
PDB (IMB)3ECR    3EQ1    5M6R    5M7F   
Structural Biology KnowledgeBase3ECR    3EQ1    5M6R    5M7F   
SCOP (Structural Classification of Proteins)3ECR    3EQ1    5M6R    5M7F   
CATH (Classification of proteins structures)3ECR    3EQ1    5M6R    5M7F   
SuperfamilyP08397
AlphaFold pdb e-kbP08397   
Human Protein Atlas [tissue]ENSG00000256269-HMBS [tissue]
HPRD01440
Protein Interaction databases
DIP (DOE-UCLA)P08397
IntAct (EBI)P08397
BioGRIDHMBS
STRING (EMBL)HMBS
ZODIACHMBS
Ontologies - Pathways
QuickGOP08397
Ontology : AmiGOhydroxymethylbilane synthase activity  hydroxymethylbilane synthase activity  protein binding  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  protein binding  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
Homologs : HomoloGeneHMBS
Homology/Alignments : Family Browser (UCSC)HMBS
Gene fusions - Rearrangements
Fusion : QuiverHMBS
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMBS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMBS
dbVarHMBS
ClinVarHMBS
MonarchHMBS
1000_GenomesHMBS 
Exome Variant ServerHMBS
GNOMAD BrowserENSG00000256269
Varsome BrowserHMBS
ACMGHMBS variants
VarityP08397
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]  
Somatic Mutations in Cancer : COSMIC3DHMBS
Mutations and Diseases : HGMDHMBS
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHMBS
DgiDB (Drug Gene Interaction Database)HMBS
DoCM (Curated mutations)HMBS
CIViC (Clinical Interpretations of Variants in Cancer)HMBS
Cancer3DHMBS
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176000    609806   
Orphanet11302   
DisGeNETHMBS
MedgenHMBS
Genetic Testing Registry HMBS
NextProtP08397 [Medical]
GENETestsHMBS
Target ValidationHMBS
Huge Navigator HMBS [HugePedia]
ClinGenHMBS
Clinical trials, drugs, therapy
MyCancerGenomeHMBS
Protein Interactions : CTDHMBS
Pharm GKB GenePA29317
PharosP08397
Clinical trialHMBS
Miscellaneous
canSAR (ICR)HMBS
HarmonizomeHMBS
DataMed IndexHMBS
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHMBS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:12:33 CEST 2021

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