HEM3_HUMAN
Source:
hRBCD
; ID:
IPI00028160
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
HMBS
, PBGD, UPS
Protein names and data:
HEM3_HUMAN
, Porphobilinogen deaminase; PBG-D; 2.5.1.61
, Hydroxymethylbilane synthase; HMBS; Pre-uroporphyrinogen synthase
Lenght: 361 a.a.
Mass: 39330 Da
fasta formatted sequence
Function:
Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
Catalytic activity:
4 porphobilinogen + H(2)O = hydroxymethylbilane + 4 NH(3).
Pathway:
Porphyrin-containing compound metabolism; protoporphyrin- IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 2/4.
Disease:
( OMIM:
176000
609806
)
Acute intermittent porphyria (AIP) [MIM:176000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm (Probable).
Tissue specificity:
Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.
Genetic variants
18 - 18
M -> I (in AIP). VAR_025558
22 - 22
R -> C (in AIP). VAR_003638
24 - 24
G -> S (in AIP). VAR_011001
26 - 26
R -> C (in AIP). VAR_011002
26 - 26
R -> H (in AIP). VAR_003639
28 - 28
S -> N (in AIP). VAR_011003
31 - 31
A -> P (in AIP). VAR_011004
31 - 31
A -> T (in AIP). VAR_003640
34 - 34
Q -> K (in AIP). VAR_003641
34 - 34
Q -> P (in AIP; less than 3% of activity). VAR_011005
34 - 34
Q -> R (in AIP). VAR_025559
35 - 35
T -> M (in AIP). VAR_011006
42 - 42
L -> S (in AIP). VAR_011007
55 - 55
A -> S (in AIP). VAR_003642
61 - 61
D -> N (in AIP). VAR_011008
61 - 61
D -> Y (in AIP). VAR_025560
78 - 78
T -> P (in AIP). VAR_025561
80 - 80
E -> G (in AIP). VAR_025562
81 - 81
L -> P (in AIP). VAR_025563
85 - 85
L -> R (in AIP). VAR_011009
86 - 86
E -> V (in AIP). VAR_025564
90 - 90
V -> G (in AIP). VAR_011010
92 - 92
L -> P (in AIP). VAR_025565
93 - 93
V -> F (in AIP; loss of activity). VAR_003643
93 - 93
Missing (in AIP). VAR_025566
96 - 96
S -> F (in AIP). VAR_025567
98 - 98
K -> R (in AIP). VAR_003644
99 - 99
D -> G (in AIP). VAR_025568
99 - 99
D -> H (in AIP). VAR_025569
99 - 99
D -> N (in AIP). VAR_025570
111 - 111
G -> R (in AIP). VAR_003645
113 - 113
I -> T (in AIP). VAR_025571
116 - 116
R -> Q (in AIP). VAR_003646
116 - 116
R -> W (in AIP; loss of activity). VAR_003647
119 - 119
P -> L (in AIP). VAR_003648
122 - 122
A -> G (in AIP). VAR_025572
124 - 124
V -> D (in AIP). VAR_011011
149 - 149
R -> L (in AIP). VAR_003649
149 - 149
R -> Q (in AIP). VAR_003650
152 - 152
Missing (in AIP). VAR_009223
167 - 167
R -> Q (in AIP). VAR_003651
167 - 167
R -> W (in AIP). VAR_003652
173 - 173
R -> Q (in AIP; 0.6% of wild-type activity). VAR_003653
173 - 173
R -> W (in AIP). VAR_003654
177 - 177
L -> R (in AIP). VAR_003655
178 - 178
D -> N (in AIP). VAR_011012
195 - 195
R -> C (in AIP; dbSNP:rs34413634). VAR_003656
34413634
201 - 201
R -> W (in AIP; residual activity). VAR_003657
202 - 202
V -> L (in AIP). VAR_011013
209 - 209
E -> K (in AIP). VAR_011014
212 - 212
M -> V (in AIP; <2% residual activity). VAR_025573
216 - 216
G -> D (in AIP). VAR_011015
217 - 217
Q -> H (in AIP). VAR_011016
217 - 217
Q -> L (in AIP). VAR_011017
219 - 219
A -> D (in AIP). VAR_011018
222 - 222
V -> M (in AIP). VAR_003658
223 - 223
E -> K (in AIP). VAR_003659
225 - 225
R -> G (in AIP). VAR_003660
225 - 225
R -> Q (in AIP). VAR_025574
236 - 236
G -> S (in AIP). VAR_025575
238 - 238
L -> R (in AIP). VAR_003661
244 - 244
L -> P (in AIP). VAR_025576
245 - 245
L -> R (in AIP). VAR_003662
247 - 247
C -> F (in AIP; residual activity). VAR_003663
247 - 247
C -> R (in AIP). VAR_003664
248 - 248
I -> IETLLRCI (in AIP). VAR_011019
250 - 250
E -> A (in AIP). VAR_003665
250 - 250
E -> K (in AIP). VAR_003666
250 - 250
E -> Q (in AIP). VAR_011020
250 - 250
E -> V (in AIP). VAR_011021
252 - 252
A -> T (in AIP). VAR_003667
252 - 252
A -> V (in AIP). VAR_003668
254 - 254
L -> P (in AIP). VAR_025577
256 - 256
H -> N (in AIP). VAR_003669
256 - 256
H -> Y (in AIP). VAR_011022
260 - 260
G -> D (in AIP). VAR_025578
261 - 261
C -> Y (in AIP). VAR_025579
267 - 267
V -> M (in AIP). VAR_011023
269 - 269
T -> I (in AIP). VAR_003670
270 - 270
A -> D (in AIP). VAR_011024
270 - 270
A -> G (in AIP). VAR_011025
274 - 274
G -> R (in AIP). VAR_003671
278 - 278
L -> P (in AIP). VAR_003672
280 - 280
G -> R (in AIP). VAR_003673
281 - 281
Missing (in AIP). VAR_011026
329 - 332
Missing (in AIP). VAR_011027
335 - 335
G -> D (in AIP). VAR_011028
335 - 335
G -> S (in AIP; less than 3% of activity). VAR_011029
343 - 343
L -> P (in AIP). VAR_025580
Database cross-references
UniProt:
P08397
Ensembl:
ENST00000278715
Ensembl:
ENST00000392841
Ensembl:
ENST00000442944
Ensembl:
ENST00000537841
Ensembl:
ENST00000542729
Ensembl:
ENST00000544387
Ensembl:
ENST00000570821
Ensembl:
ENST00000571030
Ensembl:
ENST00000571563
Ensembl:
ENST00000574152
Ensembl:
ENST00000575587
Ensembl:
ENST00000575888
MIM:
176000
MIM:
609806
neXtProt:
NX_P08397
Antibodypedia:
P08397
(may not find the protein thus also not any antibody)
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