BLVRA
Biliverdin reductase A
Also known as: BIEA_HUMAN, BLVR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P53004
- Gene
- BLVRA
- Ensembl
- ENSG00000106605
- Chromosome
- 7
- Canonical length
- 296 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
Canonical amino-acid sequenceUniProt
296 residues, UniProt reviewed canonical sequence.
>P53004|BLVRA
1 MNAEPERKFG VVVVGVGRAG SVRMRDLRNP HPSSAFLNLI GFVSRRELGS IDGVQQISLE
61 DALSSQEVEV AYICSESSSH EDYIRQFLNA GKHVLVEYPM TLSLAAAQEL WELAEQKGKV
121 LHEEHVELLM EEFAFLKKEV VGKDLLKGSL LFTAGPLEEE RFGFPAFSGI SRLTWLVSLF
181 GELSLVSATL EERKEDQYMK MTVCLETEKK SPLSWIEEKG PGLKRNRYLS FHFKSGSLEN
241 VPNVGVNKNI FLKDQNIFVQ KLLGQFSEKE LAAEKKRILH CLGLAEEIQK YCCSRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BLVRA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 123 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 123 nTPM
- spleen: 77 nTPM
- tongue: 65 nTPM
- esophagus: 65 nTPM
- bone marrow: 62 nTPM
- lung: 59 nTPM
Single-cell type
- epididymal principal cells: 621 nCPM
- hofbauer cells: 481 nCPM
- esophageal apical cells: 376 nCPM
- kupffer cells: 212 nCPM
- esophageal suprabasal cells: 156 nCPM
- mast cells: 135 nCPM
Immune cell
- intermediate monocyte: 375 nTPM
- non-classical monocyte: 370 nTPM
- classical monocyte: 293 nTPM
- total PBMC: 208 nTPM
- eosinophil: 170 nTPM
- myeloid DC: 136 nTPM
Brain region
- hypothalamus: 30 nTPM
- pons: 29 nTPM
- thalamus: 29 nTPM
- midbrain: 28 nTPM
- medulla oblongata: 27 nTPM
- spinal cord: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BLVRA.
Disease | AllUniProt
Conditions BLVRA is implicated in, by any mechanism.
- Hyperbiliverdinemia (HBLVD) MIM:614156
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 91 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hyperbiliverdinemia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.92
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.35
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic DNA fragmentation
- canonical NF-kappaB signal transduction
- chemotaxis
- complement component C5a signaling pathway
- ear development
- fatty acid metabolic process
- gene expression
- glucose homeostasis
- glycogen metabolic process
- heme catabolic process
- immune response
- inflammatory response
- insulin metabolic process
- insulin receptor signaling pathway
- lipid oxidation
- MAPK cascade
- negative regulation of apoptotic process
- phosphatidylinositol 3-kinase/protein kinase B signal transduction
- reactive oxygen species biosynthetic process
- response to cyclosporin A
- response to food
- response to lipopolysaccharide
- response to oxidative stress
- sensory perception of itch
- triglyceride metabolic process
Molecular functions
- biliverdin reductase [NAD(P)H] activity
- nucleotide binding
- protein serine/threonine kinase activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
- biliberdin reductase (NADH) activity
- biliverdin reductase (NADPH) activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gfo/Idh/MocA-like oxidoreductase, N-terminal
- NAD(P)-binding domain superfamily
- Oxidoreductase family, NAD-binding Rossmann fold
- Biliverdin reductase, catalytic
- Biliverdin reductase A
- Gfo/Idh/MocA Oxidoreductases
- Biliverdin reductase, catalytic
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BLVRA as an antibody target. Whether an autoantibody or antibody against BLVRA could matter depends on whether native BLVRA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BLVRA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BLVRA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...