HMBS Gene (Protein Coding)

Hydroxymethylbilane Synthase

GC11P119084
GIFtS:
46
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. Alternativel... See more...

Aliases for HMBS Gene

Aliases for HMBS Gene

  • Hydroxymethylbilane Synthase 2 3 4 5
  • Porphobilinogen Deaminase 2 3 4
  • Porphyria, Acute; Chester Type 2 3
  • Pre-Uroporphyrinogen Synthase 3 4
  • Uroporphyrinogen I Synthase 2 3
  • EC 2.5.1.61 4 52
  • PBG-D 3 4
  • PBGD 3 4
  • UPS 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 Porphyria. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include hydroxymethylbilane synthase activity.

UniProtKB/Swiss-Prot Summary for HMBS Gene

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

Gene Wiki entry for HMBS Gene

Additional gene information for HMBS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMBS Gene

Genomics for HMBS Gene

GeneHancer (GH) Regulatory Elements for HMBS Gene

Promoters and enhancers for HMBS Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J119084 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 518.5 +0.4 438 2.2 ZBTB40 ZNF217 EP300 SIN3A MYC POLR2G USF1 SP1 GTF2E2 PHF8 HMBS HSALNG0087612 VPS11 H2AX
GH11J119087 Promoter/Enhancer 1.5 EPDnew ENCODE dbSUPER 518 +3.8 3834 1.8 NRF1 PHB2 ZBTB11 AFF1 TARDBP REST HES1 TOE1 MYC RUNX1 HMBS VPS11 HSALNG0087612 H2AX
GH11J119066 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 16.8 -17.2 -17165 3.4 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 PHF8 VPS11 ENSG00000272186 piR-33614-047 HYOU1 HMBS H2AX C2CD2L DPAGT1 SLC37A4 RPS25
GH11J118906 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 -165.7 -165725 25.3 RXRA EP300 ZNF217 CTCF SIN3A NRF1 TCF12 MYC POLR2G USF1 BCL9L UPK2 DPAGT1 CCDC84 CXCR5 DDX6 VPS11 HMBS ENSG00000222529 FOXR1
GH11J119090 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +8.8 8806 5.9 EP300 HNRNPK ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G SP1 RBAK H2AX HINFP KMT2A UBE4A ARCN1 BCL9L ENSG00000254909 DPAGT1 VPS11 RNF26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HMBS on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMBS

Top Transcription factor binding sites by QIAGEN in the HMBS gene promoter:
  • GATA-1
  • GATA-2
  • GATA-3
  • TBP

Genomic Locations for HMBS Gene

Genomic Locations for HMBS Gene
chr11:119,084,866-119,093,549
(GRCh38/hg38)
Size:
8,684 bases
Orientation:
Plus strand
chr11:118,955,576-118,964,259
(GRCh37/hg19)
Size:
8,684 bases
Orientation:
Plus strand

Genomic View for HMBS Gene

Genes around HMBS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMBS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMBS Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HMBS Gene

Proteins for HMBS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    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

Protein Expression for HMBS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for HMBS Gene

P08397:
  • RGNLNTR
  • LEGGCSVP
  • GTSSLRR
  • TRLRKLDE

Post-translational modifications for HMBS Gene

  • Ubiquitination at Lys227
  • Modification sites at PhosphoSitePlus

Other Protein References for HMBS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HMBS Gene

Gene Families for HMBS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HMBS Gene

Blocks:
  • Porphobilinogen deaminase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HMBS Gene

GenScript: Design optimal peptide antigens:
  • Hydroxymethylbilane synthase (B5U9V4_HUMAN)
  • Hydroxymethylbilane synthase (F1DBF3_HUMAN)
  • Pre-uroporphyrinogen synthase (HEM3_HUMAN)
  • Hydroxymethylbilane synthase (Q0G847_HUMAN)
  • Porphobilinogen deaminase (Q68Y91_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08397

UniProtKB/Swiss-Prot:

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

Function for HMBS Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HMBS Gene

UniProtKB/Swiss-Prot Function:
Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + 4 porphobilinogen = hydroxymethylbilane + 4 NH4(+); Xref=Rhea:RHEA:13185, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:57845, ChEBI:CHEBI:58126; EC=2.5.1.61;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=48 uM for porphobilinogen {ECO:0000269 PubMed:23815679}; Vmax=1261 nmol/h/mg enzyme (at 37 degrees Celsius) {ECO:0000269 PubMed:23815679}; Temperature dependence: Displays high thermal stability. The half-denaturation temperature (Tm) is about 74 degrees Celsius. {ECO:0000269 PubMed:23815679};
GENATLAS Biochemistry:
hydroxymethylbilane synthase,cytosolic,catalyzing the polymerization of four PGB,third step of porphyrin biosynthesis

Enzyme Numbers (IUBMB) for HMBS Gene

Phenotypes From GWAS Catalog for HMBS Gene

Gene Ontology (GO) - Molecular Function for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004418 hydroxymethylbilane synthase activity IDA 18004775
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HMBS: view
genes like me logo Genes that share phenotypes with HMBS: view

Human Phenotype Ontology for HMBS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HMBS Gene

MGI Knock Outs for HMBS:
  • Hmbs Hmbs<tm1b(EUCOMM)Hmgu>
  • Hmbs Hmbs<tm1Uam>

Animal Model Products

CRISPR Products

miRNA for HMBS Gene

miRTarBase miRNAs that target HMBS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMBS

Clone Products

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

Localization for HMBS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMBS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMBS gene
Compartment Confidence
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HMBS: view

Pathways & Interactions for HMBS Gene

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

Pathways by source for HMBS Gene

3 BioSystems pathways for HMBS Gene
3 Reactome pathways 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

Selected Interacting proteins: P08397-HEM3_HUMAN for HMBS Gene via IID

GPS-Prot Interaction Network for HMBS
;

Gene Ontology (GO) - Biological Process for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
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 IEA --
genes like me logo Genes that share ontologies with HMBS: view

No data available for SIGNOR curated interactions for HMBS Gene

Drugs & Compounds for HMBS Gene

Products:

  1. Drug

(21) Drugs for HMBS Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Water Approved Pharma 0
Porphobilinogen Experimental Pharma 0
RAAV5-PBGD Pharma 0
heme Pharma Agonist 0

(19) Additional Compounds for HMBS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hydroxymethylbilane
  • (Hydroxymethyl)bilane
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-biline-2,7,12,17-tetrapropanoic acid
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-biline-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoic acid
 73023-76-4
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
 13131-49-2
genes like me logo Genes that share compounds with HMBS: view

Transcripts for HMBS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HMBS Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
32 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMBS

Clone 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

Expression for HMBS Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HMBS Gene

mRNA expression in normal human tissues for HMBS Gene
mRNA expression by GTEx for HMBS GenemRNA expression by BioGPS 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 (x5.1).

Protein differential expression in normal tissues from HIPED for HMBS Gene

This gene is overexpressed in Fetal Liver (25.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMBS Gene



Protein tissue co-expression partners for HMBS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMBS

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.

Evidence on tissue expression from TISSUES for HMBS Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Lung(4.5)
  • Intestine(4.3)
  • Blood(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HMBS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • prostate
  • rectum
  • urinary bladder
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with HMBS: view

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 31
  • 100 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia HMBS 31 30
  • 90.4 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia HMBS 31 30
  • 90.3 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Hmbs 30
  • 87.74 (n)
mouse
(Mus musculus)
 Mammalia Hmbs 17 31 30
  • 87.37 (n)
oppossum
(Monodelphis domestica)
 Mammalia HMBS 31
  • 85 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HMBS 31
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HMBS 31 30
  • 70.79 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HMBS 31
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hmbs 30
  • 67.82 (n)
Str.4847 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.32592 30
zebrafish
(Danio rerio)
 Actinopterygii hmbsb 31 30
  • 67.83 (n)
 OneToMany
hmbsa 31
  • 66 (a)
 OneToMany
zgc64128 30
fruit fly
(Drosophila melanogaster)
 Insecta l(3)02640 31 30
  • 56.29 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011080 30
  • 56.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ABL107C 30
  • 51.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HEM3 31 30
  • 51.03 (n)
 OneToOne
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C15147g 30
  • 48.21 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons HEMC 30
  • 45.4 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0168800 30
  • 46.53 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10281 31
  • 55 (a)
 OneToOne
Cin.12172 30
bread mold
(Neurospora crassa)
 Ascomycetes NCU10292 30
  • 51.8 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes hem3 30
  • 48.75 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.12172 30
Species where no ortholog for HMBS was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HMBS: view image

Paralogs for HMBS Gene

(1) SIMAP similar genes for HMBS Gene using alignment to 11 proteins:

  • HEM3_HUMAN
  • B5U9V4_HUMAN
  • F1DBF3_HUMAN
  • F5GY90_HUMAN
  • F5H0P4_HUMAN
  • F5H226_HUMAN
  • F5H345_HUMAN
  • F5H4W5_HUMAN
  • F5H4X2_HUMAN
  • F5H4Y7_HUMAN
  • Q0G847_HUMAN
genes like me logo Genes that share paralogs with HMBS: view

No data available for Paralogs for HMBS Gene

Variants for HMBS Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMBS Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1479 Pathogenic: Acute intermittent porphyria 119,092,955(+) CTG/C FRAMESHIFT_VARIANT
1482 Pathogenic: Porphyria, acute intermittent, nonerythroid variant 119,088,258(+) GA/G FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT
639190 Likely Pathogenic: not provided 119,092,471(+) A/G MISSENSE_VARIANT,INTRON_VARIANT
640707 Uncertain Significance: not provided 119,085,066(+) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
641071 Pathogenic: not provided 119,092,467(+) CA/C FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HMBS Gene

Variation tolerance for HMBS Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMBS Gene

Human Gene Mutation Database (HGMD)
HMBS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMBS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HMBS Gene

Disorders for HMBS Gene

MalaCards: The human disease database

(21) MalaCards diseases for HMBS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria, acute intermittent
  • aip
porphyria
  • disorder of porphyrin and hem metabolism
acute porphyria
  • hepatic porphyria
variegate porphyria
  • vp
coproporphyria, hereditary
  • hcp
- elite association - COSMIC cancer census association via MalaCards
Search HMBS in MalaCards View complete list of genes associated with diseases

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:12773194, ECO:0000269 PubMed:1301948, ECO:0000269 PubMed:1427766, ECO:0000269 PubMed:14669009, ECO:0000269 PubMed:14757946, ECO:0000269 PubMed:1496994, ECO:0000269 PubMed:14970743, ECO:0000269 PubMed:15669678, ECO:0000269 PubMed:16211556, ECO:0000269 PubMed:1714233, ECO:0000269 PubMed:18406650, ECO:0000269 PubMed:19138865, ECO:0000269 PubMed:19292878, ECO:0000269 PubMed:2243128, ECO:0000269 PubMed:23815679, ECO:0000269 PubMed:25703257, ECO:0000269 PubMed:25870942, 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.46}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HMBS Gene

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

Additional Disease Information for HMBS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HMBS: view

Publications for HMBS Gene

  1. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. (PMID: 19292878) Ulbrichova D … Martasek P (The FEBS journal 2009) 3 4 23 54
  2. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. (PMID: 19138865) Ulbrichova D … Schoenfeld N (Blood cells, molecules & diseases 2009) 3 4 23 54
  3. Structural insight into acute intermittent porphyria. (PMID: 18936296) Song G … Liu ZJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 23 54
  4. Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria. (PMID: 19207107) Gill R … Shoolingin-Jordan PM (The Biochemical journal 2009) 3 4 23 54
  5. Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. (PMID: 18406650) Schneider-Yin X … Schoenfeld N (Molecular genetics and metabolism 2008) 3 4 23 54

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