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Aliases for HMBS Gene

Aliases for HMBS Gene

  • Hydroxymethylbilane Synthase 2 3 4
  • PBGD 3 4 6
  • UPS 3 4 6
  • Porphyria, Acute; Chester Type 2 3
  • Pre-Uroporphyrinogen Synthase 3 4
  • Uroporphyrinogen I Synthase 2 3
  • Porphobilinogen Deaminase 2 3
  • EC 2.5.1.61 4 63
  • PBG-D 3 4
  • Uroporphyrinogen I Synthetase 3
  • PORC 3

External Ids for HMBS Gene

Previous HGNC Symbols for HMBS Gene

  • PBGD
  • UPS
  • PORC

Previous GeneCards Identifiers for HMBS Gene

  • GC11P135563
  • GC11P120467
  • GC11P118989
  • GC11P118493
  • GC11P118460
  • GC11P118955
  • GC11P114895

Summaries for HMBS Gene

Entrez Gene Summary for HMBS Gene

  • This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for HMBS Gene

HMBS (Hydroxymethylbilane Synthase) is a Protein Coding gene. Diseases associated with HMBS include porphyria, acute intermittent and acute porphyria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include hydroxymethylbilane synthase activity.

UniProtKB/Swiss-Prot for HMBS Gene

  • Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps

Gene Wiki entry for HMBS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMBS Gene

Genomics for HMBS Gene

Regulatory Elements for HMBS Gene

Genomic Location for HMBS Gene

Start:
119,084,866 bp from pter
End:
119,093,549 bp from pter
Size:
8,684 bases
Orientation:
Plus strand

Genomic View for HMBS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMBS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMBS Gene

Proteins for HMBS Gene

  • Protein details for HMBS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08397-HEM3_HUMAN
    Recommended name:
    Porphobilinogen deaminase
    Protein Accession:
    P08397
    Secondary Accessions:
    • A8K2L0
    • G3V1P4
    • G5EA58
    • P08396
    • Q16012

    Protein attributes for HMBS Gene

    Size:
    361 amino acids
    Molecular mass:
    39330 Da
    Cofactor:
    Name=dipyrromethane; Xref=ChEBI:CHEBI:60342; Note=Binds 1 dipyrromethane group covalently.;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The porphobilinogen subunits are added to the dipyrromethane group

    Three dimensional structures from OCA and Proteopedia for HMBS Gene

    Alternative splice isoforms for HMBS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMBS Gene

Proteomics data for HMBS Gene at MOPED

Selected DME Specific Peptides for HMBS Gene

Post-translational modifications for HMBS Gene

  • Ubiquitination at Lys227
  • Modification sites at PhosphoSitePlus

Domains for HMBS Gene

Graphical View of Domain Structure for InterPro Entry

P08397

UniProtKB/Swiss-Prot:

HEM3_HUMAN :
  • P08397
Family:
  • Belongs to the HMBS family.
genes like me logo Genes that share domains with HMBS: view

No data available for Gene Families for HMBS Gene

Function for HMBS Gene

Molecular function for HMBS Gene

GENATLAS Biochemistry: hydroxymethylbilane synthase,cytosolic,catalyzing the polymerization of four PGB,third step of porphyrin biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity: 4 porphobilinogen + H(2)O = hydroxymethylbilane + 4 NH(3)
UniProtKB/Swiss-Prot Function: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps

Enzyme Numbers (IUBMB) for HMBS Gene

Gene Ontology (GO) - Molecular Function for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004418 hydroxymethylbilane synthase activity TAS --
genes like me logo Genes that share ontologies with HMBS: view
genes like me logo Genes that share phenotypes with HMBS: view

Animal Models for HMBS Gene

MGI Knock Outs for HMBS:

Animal Model Products

CRISPR Products

miRNA for HMBS Gene

miRTarBase miRNAs that target HMBS

No data available for Transcription Factor Targeting and HOMER Transcription for HMBS Gene

Localization for HMBS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMBS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMBS Gene COMPARTMENTS Subcellular localization image for HMBS gene
Compartment Confidence
cytosol 4
chloroplast 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HMBS: view

Pathways for HMBS Gene

genes like me logo Genes that share pathways with HMBS: view

Pathways by source for HMBS Gene

UniProtKB/Swiss-Prot P08397-HEM3_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 2/4

Interacting Proteins for HMBS Gene

Gene Ontology (GO) - Biological Process for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006778 porphyrin-containing compound metabolic process TAS --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0018160 peptidyl-pyrromethane cofactor linkage IEA --
GO:0033014 tetrapyrrole biosynthetic process --
genes like me logo Genes that share ontologies with HMBS: view

Compounds for HMBS Gene

(6) HMDB Compounds for HMBS Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
Heme
  • (protoporphyrinato)iron
14875-96-8
Hydroxymethylbilane
  • 3,8,13,18-tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate
73023-76-4
Porphobilinogen
  • 5-(aminomethyl)-4-(carboxymethyl)-Pyrrole-3-propionate
487-90-1

(35) Novoseek inferred chemical compound relationships for HMBS Gene

Compound -log(P) Hits PubMed IDs
porphobilinogen 99.1 170
hydroxymethylbilane 98.2 68
uroporphyrinogen-iii 86.4 10
5-aminolevulinic acid 85.3 33
porphyrin 79.1 21
genes like me logo Genes that share compounds with HMBS: view

Transcripts for HMBS Gene

Unigene Clusters for HMBS Gene

Hydroxymethylbilane synthase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMBS

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMBS Gene

No ASD Table

Relevant External Links for HMBS Gene

GeneLoc Exon Structure for
HMBS
ECgene alternative splicing isoforms for
HMBS

Expression for HMBS Gene

mRNA expression in normal human tissues for HMBS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMBS Gene

This gene is overexpressed in Whole Blood (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for HMBS Gene

SOURCE GeneReport for Unigene cluster for HMBS Gene Hs.82609

mRNA Expression by UniProt/SwissProt for HMBS Gene

P08397-HEM3_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.
genes like me logo Genes that share expressions with HMBS: view

In Situ Assay Products

Orthologs for HMBS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HMBS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMBS 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMBS 35
  • 90.3 (n)
  • 92.8 (a)
HMBS 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMBS 35
  • 90.4 (n)
  • 94.18 (a)
HMBS 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmbs 35
  • 87.37 (n)
  • 91.36 (a)
Hmbs 16
Hmbs 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMBS 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMBS 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmbs 35
  • 87.74 (n)
  • 91.36 (a)
chicken
(Gallus gallus)
Aves HMBS 35
  • 70.79 (n)
  • 76.44 (a)
HMBS 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMBS 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32592 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hmbs 35
  • 67.82 (n)
  • 74.43 (a)
Str.4847 35
zebrafish
(Danio rerio)
Actinopterygii hmbsa 36
  • 66 (a)
OneToMany
hmbsb 35
  • 67.83 (n)
  • 74.05 (a)
hmbsb 36
  • 69 (a)
OneToMany
zgc64128 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011080 35
  • 56.2 (n)
  • 56.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(3)02640 35
  • 56.29 (n)
  • 54.9 (a)
l(3)02640 36
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL107C 35
  • 51.68 (n)
  • 45.6 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM3 35
  • 51.03 (n)
  • 43.32 (a)
HEM3 36
  • 41 (a)
OneToOne
HEM3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15147g 35
  • 48.21 (n)
  • 43.32 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEMC 35
  • 45.4 (n)
  • 40.34 (a)
rice
(Oryza sativa)
Liliopsida Os02g0168800 35
  • 46.53 (n)
  • 40.99 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU10292 35
  • 51.8 (n)
  • 45.86 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem3 35
  • 48.75 (n)
  • 45.31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12172 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10281 36
  • 55 (a)
OneToOne
Species with no ortholog for HMBS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HMBS Gene

ENSEMBL:
Gene Tree for HMBS (if available)
TreeFam:
Gene Tree for HMBS (if available)

Paralogs for HMBS Gene

genes like me logo Genes that share paralogs with HMBS: view

No data available for Paralogs for HMBS Gene

Variants for HMBS Gene

Sequence variations from dbSNP and Humsavar for HMBS Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs17075 -- 119,088,621(+) TCCAA(A/G)TCTCT intron-variant
rs474201 -- 119,087,519(-) TCCCA(C/T)CAGGA intron-variant, upstream-variant-2KB
rs494048 -- 119,090,521(+) ACATT(C/T)CCCTG intron-variant
rs549893 -- 119,089,022(+) CACAG(C/T)GCTAG intron-variant
rs557253 -- 119,088,190(+) TGGTT(C/T)TTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HMBS Gene

Variant ID Type Subtype PubMed ID
nsv898416 CNV Loss 21882294

Relevant External Links for HMBS Gene

HapMap Linkage Disequilibrium report
HMBS
Human Gene Mutation Database (HGMD)
HMBS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMBS Gene

Disorders for HMBS Gene

(1) OMIM Diseases for HMBS Gene (609806)

UniProtKB/Swiss-Prot

HEM3_HUMAN
  • Acute intermittent porphyria (AIP) [MIM:176000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. {ECO:0000269 PubMed:10453740, ECO:0000269 PubMed:10494093, ECO:0000269 PubMed:10502788, ECO:0000269 PubMed:10602775, ECO:0000269 PubMed:10657149, ECO:0000269 PubMed:10782018, ECO:0000269 PubMed:11013452, ECO:0000269 PubMed:11030413, ECO:0000269 PubMed:11399210, ECO:0000269 PubMed:11857754, ECO:0000269 PubMed:12372055, ECO:0000269 PubMed:12406973, ECO:0000269 PubMed:1301948, ECO:0000269 PubMed:1427766, ECO:0000269 PubMed:14669009, ECO:0000269 PubMed:1496994, ECO:0000269 PubMed:14970743, ECO:0000269 PubMed:15669678, ECO:0000269 PubMed:1714233, ECO:0000269 PubMed:2243128, ECO:0000269 PubMed:7757070, ECO:0000269 PubMed:7962538, ECO:0000269 PubMed:8081367, ECO:0000269 PubMed:8262523, ECO:0000269 PubMed:8268934, ECO:0000269 PubMed:8270254, ECO:0000269 PubMed:8270256, ECO:0000269 PubMed:8401516, ECO:0000269 PubMed:8825929, ECO:0000269 PubMed:9199558, ECO:0000269 PubMed:9225970, ECO:0000269 PubMed:9463797, ECO:0000269 PubMed:9654202, ECO:0000269 Ref.45}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(29) Novoseek inferred disease relationships for HMBS Gene

Disease -log(P) Hits PubMed IDs
porphyria acute intermittent 97.9 118
porphyria 89.9 7
porphyria hepatic 87.2 9
porphyria variegate 82.5 5
coproporphyria hereditary 80 1

Genatlas disease for HMBS Gene

porphyria,acute,intermittent (AIP),including an erythroid form and a non-erythroid variant

Relevant External Links for HMBS

GeneTests
HMBS
GeneReviews
HMBS
Genetic Association Database (GAD)
HMBS
Human Genome Epidemiology (HuGE) Navigator
HMBS
genes like me logo Genes that share disorders with HMBS: view

Publications for HMBS Gene

  1. CRIM-positive mutations of acute intermittent porphyria in Finland. (PMID: 1301948) Kauppinen R. … Mustajoki P. (Hum. Mutat. 1992) 3 4 23
  2. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. (PMID: 7757070) Kauppinen R. … Mustajoki P. (Hum. Mol. Genet. 1995) 3 4 23
  3. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. (PMID: 7866402) Astrin K.N. … Desnick R.J. (Hum. Mutat. 1994) 3 4 23
  4. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. (PMID: 7916736) Yoo H.-W. … Desnick R.J. (Genomics 1993) 3 4 23
  5. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid- specific enzyme. (PMID: 7962538) Chen C.-H. … Desnick R.J. (J. Clin. Invest. 1994) 3 4 23

Products for HMBS Gene

Sources for HMBS Gene

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