HMBS

GENERAL INFORMATION

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Gene name

HMBS

Gene description

Hydroxymethylbilane synthase

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

11
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (bone marrow)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic and nuclear expression, most abundant in subset of bone marrow cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Paired antibodies with similarity supports the protein profile. Pending retesting.

Data reliability

Supportive based on 2 antibodies.
HPA006114 , HPA050659
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (bone marrow)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

HMBS (HGNC Symbol)

Synonyms

PBGD, PORC, UPS

Description

Hydroxymethylbilane synthase (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

q23.3

Chromosome location (bp)

119084866 - 119093549

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000256269 (version 78.38)

Entrez gene

3145

UniProt

P08397 (UniProt - Evidence at protein level)

neXtProt

NX_P08397

Antibodypedia

HMBS antibodies


PROTEIN BROWSER

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ENST00000278715
 
ENST00000392841
 
ENST00000442944
 
ENST00000535253
 
ENST00000536813
 
ENST00000537841
 
ENST00000539986
 
ENST00000542729
 
ENST00000543090
 
ENST00000544387
 
ENST00000546302
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HMBS-001 ENSP00000278715
ENST00000278715
P08397
Show all »
Show » Show » 361 39.3 No 0
HMBS-002 ENSP00000443058
ENST00000542729
P08397
Show all »
Show » Show » 304 33.3 No 0
HMBS-003 ENSP00000438424
ENST00000544387
P08397
Show all »
Show » Show » 321 34.9 No 0
HMBS-004 ENSP00000445429
ENST00000543090
F5H345
Show all »
Show » Show » 330 35.8 No 0
HMBS-007 ENSP00000444730
ENST00000537841
P08397
Show all »
Show » Show » 344 37.7 No 0
HMBS-008 ENSP00000440092
ENST00000539986
F5GY90
Show all »
Show » Show » 187 20.9 No 0
HMBS-010 ENSP00000442079
ENST00000535253
F5GY90
Show all »
Show » Show » 187 20.9 No 0
HMBS-014 ENSP00000438726
ENST00000536813
F5H0P4
Show all »
Show » Show » 119 13 No 0
HMBS-015 ENSP00000445599
ENST00000546302
F5H226
Show all »
Show » Show » 191 21.3 No 0
HMBS-025 ENSP00000392041
ENST00000442944
P08397
Show all »
Show » Show » 344 37.7 No 0
HMBS-201 ENSP00000376584
ENST00000392841
P08397
Show all »
Show » Show » 344 37.7 No 0