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FLASH GENE

Symbol

HMBS

contributors: mct - updated : 15-11-2023

HGNC name	hydroxymethylbilane synthase
HGNC id	4982

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACIP porphyria, acute, intermittent
Location	11q23.3      Physical location : 118.955.586 - 118.964.259
Synonym name	porphobilinogen deaminase
	uroporphyrinogen I synthase
Synonym symbol(s)	PBG, PBGD, UPS, HEM3
EC.number	4.3.1.8/

DNA

TYPE	functioning gene
STRUCTURE	8.67 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D11S386 - D11S351 - D11S144 - D11S29 - APOA1 - HMBS - H2AFX - D11S350 ,THY1 - D11S147 - D11S34 - qter
Authors	Eubanks (92), Ivanova (94)
Text	see BALMCR

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001024382 14 polyA site 1411 NP_001019553 40 344 erythrocytic 2022 34523126 NM_000190 14 - 1505 NP_000181 42 361 non erythroid cells N terminal 17 residues 2022 34523126 NM_001258209 13 - 1476 NP_001245138 - 304 - 2022 34523126 NM_001258208 13 - 1385 NP_001245137 - 321 - 2022 34523126

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen         Digestive liver       highly Reproductive male system prostate     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone

cells

System Cell Pubmed Species Stage Rna symbol not specific adipocyte Homo sapiens

cell lineage	erythroid cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

porphobilinogen deaminase, dipyromethane cofactor binding domain

HOMOLOGY

interspecies

homolog to murine Hmbs

Homologene

FAMILY

HMBS family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzing the the head-to-tail polymerisation of 4 molecules of porphobilinogen to assemble the open chain tetrapyrrole, hydroxymethylbilane
	third step of porphyrin biosynthesis
	HMBS increased during differentiation of human adipocytes in parallel to adipogenic genes
	catalyses the stepwise addition of four molecules of porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

porphyrin/heme

signaling

heme biosynthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACIP

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria