HMBS | OmnibusX

Name	Number of supported studies	Average coverage
liver	3 studies	46% ± 31%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
skin	100%	1046.88	1807 / 1809	100%	22.72	472 / 472
uterus	100%	766.16	170 / 170	100%	21.03	458 / 459
liver	100%	1044.73	226 / 226	100%	16.74	405 / 406
thymus	100%	963.91	653 / 653	100%	15.87	602 / 605
pancreas	100%	765.20	328 / 328	99%	15.00	177 / 178
esophagus	100%	770.43	1443 / 1445	99%	13.97	182 / 183
brain	99%	642.97	2623 / 2642	100%	20.40	705 / 705
bladder	100%	843.62	21 / 21	99%	24.30	500 / 504
prostate	100%	917.53	245 / 245	99%	19.10	497 / 502
intestine	100%	924.33	966 / 966	99%	27.21	521 / 527
stomach	100%	752.74	359 / 359	99%	21.09	282 / 286
breast	100%	768.85	459 / 459	99%	16.46	1102 / 1118
lung	99%	832.40	570 / 578	99%	22.25	1149 / 1155
kidney	100%	942.99	89 / 89	98%	11.95	881 / 901
adrenal gland	100%	1278.68	258 / 258	94%	10.93	217 / 230
ovary	90%	356.24	162 / 180	100%	17.82	430 / 430
eye	0%	0	0 / 0	100%	22.85	80 / 80
lymph node	0%	0	0 / 0	100%	33.86	29 / 29
muscle	100%	1224.23	803 / 803	0%	0	0 / 0
peripheral blood	100%	2205.82	929 / 929	0%	0	0 / 0
spleen	100%	1417.62	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	15.14	45 / 45
ureter	0%	0	0 / 0	100%	17.11	1 / 1
adipose	100%	735.28	1199 / 1204	0%	0	0 / 0
heart	97%	807.95	833 / 861	0%	0	0 / 0
blood vessel	94%	432.95	1258 / 1335	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

GO_0006782	Biological process	protoporphyrinogen IX biosynthetic process
GO_0006783	Biological process	heme biosynthetic process
GO_0006784	Biological process	heme A biosynthetic process
GO_0048034	Biological process	heme O biosynthetic process
GO_0006785	Biological process	heme B biosynthetic process
GO_0005829	Cellular component	cytosol
GO_0005737	Cellular component	cytoplasm
GO_0004418	Molecular function	hydroxymethylbilane synthase activity
GO_0005515	Molecular function	protein binding

Gene name	HMBS
Protein name	Porphobilinogen deaminase (PBG-D) (EC 2.5.1.61) (Hydroxymethylbilane synthase) (HMBS) (Pre-uroporphyrinogen synthase) Hydroxymethylbilane synthase hydroxymethylbilane synthase (EC 2.5.1.61) (Hydroxymethylbilane synthase) Hydroxymethylbilane synthase (EC 2.5.1.61)
Synonyms	PBGD UPS
Description	FUNCTION: As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen . Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assembled. In the last step of catalysis, the product, preuroporphyrinogen, is released, leaving the cofactor bound to the holodeaminase intact . .
Accessions	A0A3B3IT17 ENST00000392841.1 [P08397-2] ENST00000442944.7 A0A3B3IU56 F5H345 ENST00000535793.5 ENST00000545621.5 F5H4Y7 F5H4X2 P08397 ENST00000650101.1 ENST00000535253.5 A0A8I5KXV4 ENST00000640813.1 A0A3B3IU34 A0A3F2YNY7 F5H4W5 F5H0P4 F5GY90 ENST00000542822.5 F1DBF3 A0A3B3IRR1 ENST00000542729.5 [P08397-4] Q0G847 X5FSX0 F5H226 ENST00000648488.1 ENST00000546302.6 B5U9V4 ENST00000648374.1 [P08397-2] ENST00000686218.1 ENST00000652429.1 [P08397-1] A0A1W2PNU5 ENST00000544387.5 [P08397-3] ENST00000543090.5 ENST00000536813.6 ENST00000537841.5 [P08397-2] ENST00000649868.1 ENST00000648026.1

HMBS report