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HMBS [cytosol]
Stable Identifier
R-HSA-3004609
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Porphobilinogen deaminase, HEM3_HUMAN
Locations in the PathwayBrowser
Expand all
Metabolism (Homo sapiens)
Metabolism of porphyrins (Homo sapiens)
Heme biosynthesis (Homo sapiens)
4 PBGs bind to form HMB (Homo sapiens)
HMBS:DIPY [cytosol] (Homo sapiens)
HMBS [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P08397 HMBS
Gene Names
HMBS, PBGD, UPS
Chain
initiator methionine:1, chain:2-361
Reference Genes
BioGPS Gene:3145 HMBS
COSMIC (genes):HMBS HMBS
CTD Gene:3145 HMBS
dbSNP Gene:3145 HMBS
ENSEMBL:ENSG00000256269 HMBS
ENSEMBL:ENSG00000256269.11 HMBS
HGNC:4982 HMBS
KEGG Gene (Homo sapiens):3145 HMBS
Monarch:3145 HMBS
NCBI Gene:3145 HMBS
OMIM:609806 HMBS
UCSC:P08397 HMBS
Reference Transcript
RefSeq:NM_001258208.1 HMBS
RefSeq:NM_001024382.1 HMBS
RefSeq:XM_005271531.1 HMBS
RefSeq:NM_001258209.1 HMBS
RefSeq:XM_005271532.1 HMBS
RefSeq:NM_000190.3 HMBS
RefSeq:XM_017017629.1 HMBS
Other Identifiers
11720884_a_at
16732133
203040_PM_s_at
203040_s_at
3145
3351842
3351843
3351844
3351848
3351849
3351851
3351852
3351853
3351856
3351859
3351860
3351862
3351864
3351867
3351871
3351873
3351876
3351878
3351880
3351881
3351882
37649_at
7944401
A_23_P98431
GO:0003824
GO:0004418
GO:0005515
GO:0005737
GO:0005829
GO:0006779
GO:0006782
GO:0006783
GO:0016740
GO:0018160
GO:0033014
GO:0036211
HMNXSV003048183
ILMN_1685954
ILMN_1694476
ILMN_1726306
M95623_cds1_at
PH_hs_0004732
TC11001083.hg
g4504422_3p_a_at
Participates
as a component of
HMBS:DIPY [cytosol] (Homo sapiens)
Inferred To
HEM3 [cytosol]
(Saccharomyces cerevisiae)
hmbs [cytosol]
(Xenopus tropicalis)
hem3 [cytosol]
(Schizosaccharomyces pombe)
HMBS [cytosol]
(Bos taurus)
HMBS [cytosol]
(Canis familiaris)
HMBS [cytosol]
(Danio rerio)
HMBS [cytosol]
(Gallus gallus)
HMBS [cytosol]
(Plasmodium falciparum)
HMBS [cytosol]
(Sus scrofa)
Hmbs [cytosol]
(Drosophila melanogaster)
Hmbs [cytosol]
(Mus musculus)
Hmbs [cytosol]
(Rattus norvegicus)
Cross References
RefSeq
NP_001245137.1
,
NP_000181.2
,
XP_005271589.1
,
XP_016873118.1
,
NP_001245138.1
,
XP_005271588.1
,
NP_001019553.1
OpenTargets
ENSG00000256269
HPA
ENSG00000256269-HMBS
GeneCards
P08397
Ensembl
ENSP00000498786
,
ENSP00000438424
,
ENST00000392841
,
ENSP00000497255
,
ENST00000542729
,
ENST00000544387
,
ENST00000537841
,
ENSP00000443058
,
ENST00000652429
,
ENSP00000376584
,
ENST00000648374
,
ENSG00000256269
,
ENSP00000444730
PRO
P08397
Pharos - Targets
P08397
Orphanet
16205
HMDB Protein
HMDBP00358
PDB
7CCY
,
7AAK
,
3ECR
,
7CCX
,
5M7F
,
3EQ1
,
7CD0
,
7AAJ
,
7CCZ
,
5M6R
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P42858 HTT
1
HTT [nucleoplasm]
(R-HSA-9023590)
0.556
3
UniProt:Q9NRD5 PICK1
2
PICK1 [plasma membrane]
(R-HSA-416989)
PICK1 [endocytic vesicle membrane]
(R-HSA-417017)
0.556
3
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