SHIELD | Shared Harvard Inner-Ear Laboratory Database

MOUSE GENE INFORMATION [PubMed]

Description

uroporphyrinogen III synthase

Synonyms

hydroxymethylbilane hydrolyase (cyclizing); Uros3; uroporphyrinogen-III synthase; URO-synthase

Chromosome

Genetic Map Distance

77.26 cM

RefSeq Accessions

NM_009479; NP_033505

NCBI Entrez Gene

22276 at chr7:140878013-140900978 (mm9) / chr7:133686330-133710410 (mm10)

Ensembl Gene

ENSMUSG00000030979

VEGA Gene

OTTMUSG00000025682

MGI Gene

MGI:98917

Mouse Protein (6)

UniProt ID	Description	Length (AA)
P51163	Uroporphyrinogen-III synthase	265
Q3TPL3	Putative uncharacterized protein	188
Q3UG55	Putative uncharacterized protein	265
Q3UKR3	Putative uncharacterized protein	265
Q9CW78	Putative uncharacterized protein (Fragment)	27
Q9JLU5	Uroporphyrinogen III synthase (Fragment)	21

Pfam Domains

HEM4; DUF1797

Mouse alleles (8)

Allele Name	Allele Type
Uros^{tm1e(EUCOMM)Wtsi}	EUCOMM-projects
Uros^{tm1a(EUCOMM)Wtsi}	EUCOMM-projects
Uros^tm1Cged	Targeted (knock-in)
Uros^tm1Rjde	Targeted (knock-in)
Uros^tm2Cged	Targeted (knock-out)
Uros^tm2Rjde	Targeted (knock-in)
Uros^tm3Rjde	Targeted (knock-in)
Uros^tm4Rjde	Targeted (knock-in)

Human Homolog

UROS (uroporphyrinogen III synthase)

Human synonyms

UROIIIS

Human cytoband

10q25.2-q26.3

Known deafness gene

Within mapped deafness loci

DFNB57

Associated Human Disease in OMIM

Porphyria, Congenital Erythropoietic [CEP|Gunther Disease|Uroporphyrinogen III Synthase, Deficiency of|Uros Deficiency]

Chicken homolog (1)

ENSGALG00000013688 (UROS) encoding ENSGALP00000022218

Gene Ontology

Biological Process (6)	uroporphyrinogen III biosynthetic process; uroporphyrinogen III biosynthetic process; porphyrin-containing compound biosynthetic process; porphyrin-containing compound biosynthetic process; heme biosynthetic process; tetrapyrrole biosynthetic process
Cellular Component (2)	cytosol; mitochondrion
Molecular Function (6)	lyase activity; uroporphyrinogen-III synthase activity; uroporphyrinogen-III synthase activity; uroporphyrinogen-III synthase activity; cofactor binding; uroporphyrinogen-III synthase activity

FACS-Sorted Hair Cells

Data | Chart

	E16a	E16b	P0	P4	P7	P16
Utricle GFP+ cells	30	3	38	108	60	19
Cochlea GFP+ cells	24	34	67	132	172	NA
Utricle GFP- cells	26	38	23	80	63	0
Cochlea GFP- cells	24	19	14	32	26	NA

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
GFP-	31	GFP+	62	1.97	0.484
Utricle	41	Cochlea	54	1.34	1
Embryonic	25	Postnatal	60	2.37	0.805

Adult Cochlear Inner and Outer Hair Cells

Probeset ID	IHC (mean ± sd)	OHC (mean ± sd) [OHC replicate]	Fold Change (OHC/IHC)	False Discovery Rate (FDR)
17497203	15.09 ± 0.39	15.00 ± 1.15 [12.34]	0.99	0.881

Otic Progenitor Cells

Data

Growth Factor	Replicate 1	Replicate 2	Replicate 3	Mean
bFGF	206	226	151	185
No bFGF	314	275	249	270
EGF	276	272	251	266

Analysis

Condition A	Mean A	Condition B	Mean B	Fold Change (B/A)	False Discovery Rate (FDR)
bFGF	185	No bFGF	270	1.46	1
bFGF	185	EGF	266	1.44	0.0209
No bFGF	270	EGF	266	0.99	1

Chicken Stereocilium Proteomics

The chicken protein was not reproducibly detected in the chicken stereocilia.

The chicken protein was not reproducibly detected in the chicken stereocilia.

Auditory and Vestibular Ganglion Neurons

Probe set ID: 1423482_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	3191.34	2331.65	2859	2346.88	2370.17	2334.28
Replicate 1 Call	P	P	P	P	P	P
Replicate 2	3095.2	3006.8	2283.72	2151.35	2443.94	1996.39
Replicate 2 Call	P	P	P	P	P	P
Replicate 3	3363.51	3061.17	2326.11	2267.34	3106	2274.51
Replicate 3 Call	P	P	P	M	P	P
Replicate 4			2186.05	2474.61	2653.23	2513.72
Replicate 4 Call			P	P	P	P
Mean	3216.68	2799.87	2413.72	2310.05	2643.34	2279.73
Standard Deviation	135.94	406.4	302.59	135.95	330.93	214.5
Log2 Mean	11.65	11.44	11.23	11.17	11.36	11.15
Log2 Standard Deviation	0.06	0.22	0.17	0.08	0.17	0.14

Vestibular ganglion
Replicate 1	3504.79	3260.6	2982.22	3325.96	3450.44	3893.61
Replicate 1 Call	P	P	A	M	P	P
Replicate 2	3364.48	3419.6	2874.53	2590.67	3780.99	3818.25
Replicate 2 Call	P	P	A	P	P	P
Replicate 3	3428.19	3308.9	2622.1	2916.03	2788.44	3846.29
Replicate 3 Call	P	P	A	P	P	P
Mean	3432.49	3329.7	2826.28	2944.22	3339.96	3852.72
Standard Deviation	70.25	81.52	184.84	368.45	505.41	38.09
Log2 Mean	11.74	11.7	11.46	11.52	11.69	11.91
Log2 Standard Deviation	0.03	0.04	0.1	0.18	0.23	0.01

Probe set ID: 1440535_at

Age	E12	E13	E16	P0	P6	P15
Spiral ganglion
Replicate 1	58.03	71.07	71.54	64.2	39.77	47.98
Replicate 1 Call	A	P	A	A	A	A
Replicate 2	59.35	72.3	43.14	68.32	59.43	69.18
Replicate 2 Call	A	A	P	A	A	A
Replicate 3	39.13	36.89	47.34	56.29	75.14	51.42
Replicate 3 Call	A	A	P	A	A	A
Replicate 4			40.32	69.1	67.17	63.19
Replicate 4 Call			A	A	A	A
Mean	52.17	60.09	50.59	64.48	60.38	57.94
Standard Deviation	11.31	20.1	14.26	5.87	15.16	9.93
Log2 Mean	5.68	5.84	5.62	6.01	5.88	5.84
Log2 Standard Deviation	0.34	0.55	0.37	0.14	0.4	0.25

Vestibular ganglion
Replicate 1	83.38	65.7	54.23	47.54	72.63	84.84
Replicate 1 Call	M	A	A	A	A	P
Replicate 2	53.37	71.56	54.9	73.86	82.13	74.08
Replicate 2 Call	A	P	A	A	A	P
Replicate 3	56.16	73.22	56.85	81.41	58.81	88.73
Replicate 3 Call	A	P	A	A	A	A
Mean	64.3	70.16	55.33	67.6	71.19	82.55
Standard Deviation	16.58	3.95	1.36	17.78	11.73	7.59
Log2 Mean	5.98	6.13	5.79	6.04	6.14	6.36
Log2 Standard Deviation	0.35	0.08	0.04	0.41	0.24	0.14

GENE VIEW

Uros