Gene Symbol | Hmbs |
Entrez Gene ID | 15288 |
Full Name | hydroxymethylbilane synthase |
Synonyms | PBGD,T25658,Ups,Uros1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome |
ORF » Species Summary » Mus musculus » Hmbs cDNA ORF clone
Gene Symbol | Hmbs |
Entrez Gene ID | 15288 |
Full Name | hydroxymethylbilane synthase |
Synonyms | PBGD,T25658,Ups,Uros1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome |
mRNA | Protein | Name |
---|---|---|
NM_013551.2 | NP_038579.2 | porphobilinogen deaminase isoform 1 |
NM_001110251.1 | NP_001103721.1 | porphobilinogen deaminase isoform 2 |
Mus musculus (house mouse) | Hmbs | NP_038579.2 |
Gallus gallus (chicken) | HMBS | XP_417846.2 |
Saccharomyces cerevisiae (baker's yeast) | HEM3 | NP_010076.1 |
Schizosaccharomyces pombe (fission yeast) | hem3 | NP_001018179.1 |
Arabidopsis thaliana (thale cress) | HEMC | NP_196445.1 |
Canis lupus familiaris (dog) | HMBS | XP_546491.2 |
Oryza sativa (rice) | Os02g0168800 | NP_001046017.1 |
HMBS | XP_001101764.1 | |
Bos taurus (cattle) | HMBS | NP_001039672.1 |
Rattus norvegicus (Norway rat) | Hmbs | NP_037300.2 |
Danio rerio (zebrafish) | hmbsa | NP_957448.1 |
Drosophila melanogaster (fruit fly) | l(3)02640 | NP_612103.1 |
Neurospora crassa | NCU10292 | XP_001728039.1 |
Homo sapiens (human) | HMBS | NP_000181.2 |
Danio rerio (zebrafish) | hmbsb | NP_001019559.1 |
Kluyveromyces lactis | KLLA0C15147g | XP_452879.1 |
Magnaporthe oryzae (rice blast fungus) | MGG_04860 | XP_003712340.1 |
Xenopus tropicalis (tropical clawed frog) | hmbs | NP_001005635.1 |
Anopheles gambiae (African malaria mosquito) | AgaP_AGAP011080 | XP_564464.3 |
Eremothecium gossypii | AGOS_ABL107C | NP_982840.1 |
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
Collantes M, Serrano-Mendioroz I, Benito M, Molinet-Dronda F, Delgado M, Vinaixa M, Sampedro A, Enr?quez de Salamanca R, Prieto E, Pozo MA, Pe?uelas I, Corrales FJ, Barajas M, Fontanellas A
Human molecular genetics25(7)1318-27(2016 Apr)
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
Homedan C, Schmitt C, Laafi J, Gueguen N, Desquiret-Dumas V, Lenglet H, Karim Z, Gouya L, Deybach JC, Simard G, Puy H, Malthi?ry Y, Reynier P
Human molecular genetics24(17)5015-23(2015 Sep)
The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in mice.
Jakobs HH, Mikula M, Havemeyer A, Strzalkowska A, Borowa-Chmielak M, Dzwonek A, Gajewska M, Hennig EE, Ostrowski J, Clement B
PloS one9(8)e105371(2014)
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.
Unzu C, Sampedro A, Maule?n I, Gonz?lez-Aparicio M, Enr?quez de Salamanca R, Prieto J, Arag?n T, Fontanellas A
Human molecular genetics22(14)2929-40(2013 Jul)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
PBGD-deficient mice showed a different response to fasting as measured by altered carbohydrate metabolism in the liver and modified glucose consumption in the brain cortex. Glucose homeostasis in fasted PBGD-deficient mice was efficiently normalized after restoration of PBGD gene expression in the liver.
Title: Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
Porphobilinogen deaminase over-expression in hepatocytes, albeit in a low proportion, reduced precursor accumulation, which is the hallmark of acute porphyric attacks.
Title: Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
PBGD-deficient mice were characterized biochemically during phenobarbital induction of heme synthesis and enzyme replacement.
Title: Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.
The following Hmbs gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the Hmbs cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
CloneID | OMu18816 | |
Clone ID Related Accession (Same CDS sequence) | NM_001110251.1 | |
Accession Version | NM_001110251.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1035bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | User Manual |
Clone information | Clone Map | MSDS |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-10-19 | |
Organism | Mus musculus(house mouse) | |
Product | porphobilinogen deaminase isoform 2 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BB844509.1, AK143558.1 and AI853649.1. Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK143558.1, AK028234.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGAGGGTGA TTCGAGTGGG CACCCGTAAG AGCCAGCTGG CTCGCATACA GACCGACACT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001103721.1 |
CDS | 180..1214 |
Translation |
Target ORF information:
Target ORF information:
|
NM_001110251.1 |
1 | ATGAGGGTGA TTCGAGTGGG CACCCGTAAG AGCCAGCTGG CTCGCATACA GACCGACACT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu18872 | |
Clone ID Related Accession (Same CDS sequence) | NM_013551.2 | |
Accession Version | NM_013551.2 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1086bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | User Manual |
Clone information | Clone Map | MSDS |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-10-19 | |
Organism | Mus musculus(house mouse) | |
Product | porphobilinogen deaminase isoform 1 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY786671.1, AK151020.1, AK166734.1 and AI853649.1. On Nov 2, 2007 this sequence version replaced NM_013551.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003861.1, AK167702.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGTCCGGTA ACGGCGGCGC GGCCACAACC GCGGAAGAAA ACGGCTCAAA GATGAGGGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_038579.2 |
CDS | 187..1272 |
Translation |
Target ORF information:
Target ORF information:
|
NM_013551.2 |
1 | ATGTCCGGTA ACGGCGGCGC GGCCACAACC GCGGAAGAAA ACGGCTCAAA GATGAGGGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency. |
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria. |
The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in mice. |
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice. |