GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description hydroxymethylbilane synthase
Synonyms porphobilinogen deaminase; PBGD; Uros1; Ups
Chromosome 9
Genetic Map Distance 24.84 cM
RefSeq Accessions NM_001110251; NM_013551; NP_001103721; NP_038579
NCBI Entrez Gene 15288 at chr9:44144431-44152311 (mm9) / chr9:44336348-44344228 (mm10)
Ensembl Gene ENSMUSG00000032126
VEGA Gene
MGI Gene MGI:96112
Mouse Protein (5)
UniProt ID Description Length (AA) Predicted # TMs
P22907 Porphobilinogen deaminase 361 0
Q3TIV0 Putative uncharacterized protein 361 0
Q3UBC6 Putative uncharacterized protein 360 0
Q3UPG1 Putative uncharacterized protein 344 0
Q99L41 Hydroxymethylbilane synthase 361 0
Pfam Domains Porphobil_deam; Porphobil_deamC
Mouse alleles (5)
Allele Name Allele Type
Hmbstm1a(EUCOMM)Hmgu EUCOMM-projects
Hmbstm1e(EUCOMM)Hmgu EUCOMM-projects
Hmbstm1Uam Targeted (knock-out)
Hmbstm2Uam Targeted (other)
Hmbstm3Uam Targeted (other)
Human Homolog HMBS (hydroxymethylbilane synthase)
Human synonyms PBG-D; PBGD; PORC; UPS
Human cytoband 11q23.3
Known deafness gene No
Within mapped deafness loci No
Associated Human Disease in OMIM
Chicken homolog (1)
ENSGALG00000000291 (HMBS) encoding ENSGALP00000000379
Gene Ontology
Biological Process (4) heme biosynthetic process; peptidyl-pyrromethane cofactor linkage; porphyrin-containing compound biosynthetic process; tetrapyrrole biosynthetic process
Cellular Component (4) nucleus; cytoplasm; axon; condensed chromosome
Molecular Function (7) hydroxymethylbilane synthase activity; hydroxymethylbilane synthase activity; uroporphyrinogen-III synthase activity; transferase activity; carboxylic acid binding; amine binding; coenzyme binding
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
73
13
51
29
40
71
Cochlea GFP+ cells
99
27
30
68
81
NA
Utricle GFP- cells
76
35
32
108
82
0
Cochlea GFP- cells
79
13
16
58
54
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
50
GFP+
53
1.05
0.992
Utricle
51
Cochlea
52
1.03
1
Embryonic
52
Postnatal
51
0.99
0.998
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)
17526225 33.52 ± 4.98 36.34 ± 3.46 [39.74] 1.08 0.727
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
752
703
669
889
No bFGF
656
672
607
715
EGF
804
771
787
787
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
889
No bFGF
715
0.80
1
bFGF
889
EGF
787
0.89
0.379
No bFGF
715
EGF
787
1.10
0.571
Chicken Stereocilium Proteomics
The chicken protein was not reproducibly detected in the chicken stereocilia.
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1426475_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 673.87 592.74 413.99 396.98 555.21 545.64
Replicate 1 Call A P P M P A
Replicate 2 730.57 605.39 243.94 637.77 436.99 427.58
Replicate 2 Call A A A A A A
Replicate 3 716.09 719.54 292.64 226.88 693.8 295.95
Replicate 3 Call A P P A P A
Replicate 4 182.44 282.79 562.33 320.16
Replicate 4 Call A A A A
Mean 706.84 639.22 283.25 386.11 562.08 397.33
Standard Deviation 29.46 69.84 98.13 182.1 104.95 114.23
Log2 Mean 9.46 9.31 8.08 8.48 9.12 8.59
Log2 Standard Deviation 0.06 0.15 0.49 0.65 0.27 0.4
 
Vestibular ganglion
Replicate 1 584.4 611.79 691.75 497.6 403.04 586.03
Replicate 1 Call A P A A A P
Replicate 2 593.81 727.06 627.66 368.52 891.37 595.6
Replicate 2 Call A P A A A P
Replicate 3 504.97 605.18 316.6 433.73 636.19 625.63
Replicate 3 Call A P A A A P
Mean 561.06 648.01 545.34 433.28 643.53 602.42
Standard Deviation 48.8 68.54 200.67 64.54 244.25 20.66
Log2 Mean 9.13 9.33 9.01 8.75 9.26 9.23
Log2 Standard Deviation 0.13 0.15 0.61 0.22 0.57 0.05
Probe set ID: 1436930_x_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 2497.42 2285.88 2114.24 2543.95 3149.26 3509.13
Replicate 1 Call P P P P P P
Replicate 2 2655.18 2376.24 2447.47 3901.48 2675.65 4101.26
Replicate 2 Call P P P P P P
Replicate 3 2540.13 2489.91 2510.11 1944.14 3405.65 2802.87
Replicate 3 Call P P P P P P
Replicate 4 2143.5 2000.33 4067.16 3351.49
Replicate 4 Call P P P P
Mean 2564.24 2384.01 2303.83 2597.48 3324.43 3441.19
Standard Deviation 81.6 102.24 203.99 910.44 580.19 534.11
Log2 Mean 11.32 11.22 11.17 11.28 11.68 11.74
Log2 Standard Deviation 0.05 0.06 0.13 0.46 0.25 0.23
 
Vestibular ganglion
Replicate 1 2082.61 2470.09 3074.78 1929.97 1752.9 1770.31
Replicate 1 Call P P P P P P
Replicate 2 2247.6 2666.71 2730.6 2277 2740.21 1771.72
Replicate 2 Call P P P P P P
Replicate 3 2030.71 2608.47 1946.79 2277.65 2467.35 1779.68
Replicate 3 Call P P P P P P
Mean 2120.31 2581.76 2584.06 2161.54 2320.15 1773.9
Standard Deviation 113.25 101 578.1 200.55 509.85 5.05
Log2 Mean 11.05 11.33 11.31 11.07 11.15 10.79
Log2 Standard Deviation 0.08 0.06 0.34 0.14 0.34 0