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HMBS hydroxymethylbilane synthase [ Homo sapiens (human) ]

Gene ID: 3145, updated on 19-Jul-2014
Official Symbol
HMBSprovided by HGNC
Official Full Name
hydroxymethylbilane synthaseprovided by HGNC
Primary source
HGNC:4982
See related
Ensembl:ENSG00000256269; HPRD:01440; MIM:609806; Vega:OTTHUMG00000168295
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UPS; PBGD; PORC; PBG-D
Summary
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]
See HMBS in Epigenomics, MapViewer
Location:
11q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (119084877..119093549)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118955587..118964259)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene hypoxia up-regulated 1 Neighboring gene vacuolar protein sorting 11 homolog (S. cerevisiae) Neighboring gene H2A histone family, member X Neighboring gene dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Heme Biosynthesis, organism-specific biosystem (from WikiPathways)
    Heme Biosynthesis, organism-specific biosystemThe enzymatic process that produces heme is properly called porphyrin synthesis, as all the intermediates are tetrapyrroles that are chemically classified are porphyrins. The process is highly conser...
  • Heme biosynthesis, organism-specific biosystem (from REACTOME)
    Heme biosynthesis, organism-specific biosystemEight enzymes are involved in heme biosynthesis, four each in the mitochondria and the cytosol. The process starts in the mitochondria with the condensation of succinyl CoA (from the TCA cycle) and g...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of porphyrins, organism-specific biosystem (from REACTOME)
    Metabolism of porphyrins, organism-specific biosystemPorphyrins are heterocyclic macrocycles, consisting of four pyrrole subunits (tetrapyrrole) linked by four methine (=CH-) bridges. The extensive conjugated porphyrin macrocycle is chromatic and the n...
  • Porphyrin and chlorophyll metabolism, organism-specific biosystem (from KEGG)
    Porphyrin and chlorophyll metabolism, organism-specific biosystem
    Porphyrin and chlorophyll metabolism
  • Porphyrin and chlorophyll metabolism, conserved biosystem (from KEGG)
    Porphyrin and chlorophyll metabolism, conserved biosystem
    Porphyrin and chlorophyll metabolism
  • heme biosynthesis II, organism-specific biosystem (from BIOCYC)
    heme biosynthesis II, organism-specific biosystem
    heme biosynthesis II
  • superpathway of heme biosynthesis from glycine, conserved biosystem (from BIOCYC)
    superpathway of heme biosynthesis from glycine, conserved biosystemGeneral Background Heme (protoheme, heme b) is an iron-containing prosthetic group found in many essential proteins including cytochromes and heme-containing globins. In addition to its role in oxi...
  • tetrapyrrole biosynthesis II, organism-specific biosystem (from BIOCYC)
    tetrapyrrole biosynthesis II, organism-specific biosystemTetrapyrrole compounds include four rings of the pyrrole type, generally linked together by single-atom bridges between the alpha positions of the five-membered pyrrole rings. Tetrapyrroles usually f...
  • tetrapyrrole biosynthesis II (from glycine), conserved biosystem (from BIOCYC)
    tetrapyrrole biosynthesis II (from glycine), conserved biosystemTetrapyrrole compounds include four rings of the pyrrole type, generally linked together by single-atom bridges between the alpha positions of the five-membered pyrrole rings. Tetrapyrroles usually f...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydroxymethylbilane synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydroxymethylbilane synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
heme biosynthetic process IC
Inferred by Curator
more info
PubMed 
heme biosynthetic process TAS
Traceable Author Statement
more info
 
peptidyl-pyrromethane cofactor linkage IEA
Inferred from Electronic Annotation
more info
 
porphyrin-containing compound metabolic process TAS
Traceable Author Statement
more info
 
protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
porphobilinogen deaminase
Names
porphobilinogen deaminase
uroporphyrinogen I synthase
pre-uroporphyrinogen synthase
uroporphyrinogen I synthetase
porphyria, acute; Chester type
NP_000181.2
NP_001019553.1
NP_001245137.1
NP_001245138.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008093.1 

    Range
    5001..13673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000190.3NP_000181.2  porphobilinogen deaminase isoform 1

    See proteins identical to NP_000181.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW139390, BC019323, CB128006
    Consensus CDS
    CCDS8409.1
    UniProtKB/Swiss-Prot
    P08397
    Related
    ENSP00000278715, OTTHUMP00000238530, ENST00000278715, OTTHUMT00000399188
    Conserved Domains (2) summary
    PRK00072
    Location:18344
    Blast Score: 1099
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:21344
    Blast Score: 1122
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...
  2. NM_001024382.1NP_001019553.1  porphobilinogen deaminase isoform 2

    See proteins identical to NP_001019553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate, in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC019323, BF210364, BQ020524, X04217
    Consensus CDS
    CCDS41726.1
    UniProtKB/Swiss-Prot
    P08397
    Related
    ENSP00000376584, ENST00000392841
    Conserved Domains (2) summary
    PRK00072
    Location:1327
    Blast Score: 1096
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:4327
    Blast Score: 1118
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...
  3. NM_001258208.1NP_001245137.1  porphobilinogen deaminase isoform 3

    See proteins identical to NP_001245137.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK131072, AW139390, CB128006
    Consensus CDS
    CCDS58186.1
    UniProtKB/Swiss-Prot
    P08397
    Related
    ENSP00000438424, OTTHUMP00000238537, ENST00000544387, OTTHUMT00000399195
    Conserved Domains (2) summary
    PRK00072
    Location:18304
    Blast Score: 901
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:21304
    Blast Score: 919
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...
  4. NM_001258209.1NP_001245138.1  porphobilinogen deaminase isoform 4

    See proteins identical to NP_001245138.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction at the 3' end of the first exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AK000628, AP003392, AW139390, CB128006
    Consensus CDS
    CCDS58187.1
    UniProtKB/Swiss-Prot
    P08397
    Related
    ENSP00000443058, OTTHUMP00000238533, ENST00000542729, OTTHUMT00000399191
    Conserved Domains (2) summary
    PRK00072
    Location:1287
    Blast Score: 898
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:4287
    Blast Score: 916
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    119084877..119093549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271533.1XP_005271590.1  

    Related
    ENSP00000445429, OTTHUMP00000238539, ENST00000543090, OTTHUMT00000399197
    Conserved Domains (2) summary
    PRK00072
    Location:12326
    Blast Score: 1036
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:12326
    Blast Score: 1072
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...
  2. XM_005271532.1XP_005271589.1  

    See proteins identical to XP_005271589.1

    UniProtKB/Swiss-Prot
    P08397
    Related
    ENSP00000392041, OTTHUMP00000238580, ENST00000442944, OTTHUMT00000399309
    Conserved Domains (2) summary
    PRK00072
    Location:1327
    Blast Score: 1096
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:4327
    Blast Score: 1118
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...
  3. XM_005271531.1XP_005271588.1  

    See proteins identical to XP_005271588.1

    UniProtKB/Swiss-Prot
    P08397
    Related
    ENSP00000444730, OTTHUMP00000238532, ENST00000537841, OTTHUMT00000399190
    Conserved Domains (2) summary
    PRK00072
    Location:1327
    Blast Score: 1096
    hemC; porphobilinogen deaminase; Reviewed
    cd00494
    Location:4327
    Blast Score: 1118
    HMBS; Hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase (PBGD), is an intermediate enzyme in the biosynthetic pathway of tetrapyrrolic ring systems, such as heme, chlorophylls, and vitamin B12. HMBS catalyzes the conversion of ...

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    114895043..114903707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    118841878..118850561
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)