GENE VIEW

MOUSE GENE INFORMATION [PubMed]
Description progressive external ophthalmoplegia 1 (human)
Synonyms twinkle; D19Ertd626e; Twinl
Chromosome 19
Genetic Map Distance 38.19 cM
RefSeq Accessions NM_153796; NP_722491
NCBI Entrez Gene 226153 at chr19:45081048-45087252 (mm9) / chr19:45006079-45012763 (mm10)
Ensembl Gene ENSMUSG00000025209
VEGA Gene
MGI Gene MGI:2137410
Mouse Protein (4)
UniProt ID Description Length (AA) Predicted # TMs
Q8CIW5 Twinkle protein, mitochondrial 685 0
Q3V303 Putative uncharacterized protein (Fragment) 308 0
Q80WJ4 Putative T7-like mitochodrial DNA helicase twinky variant (Fragment) 27 0
Q80WJ5 Putative T7-like mitochodrial DNA helicase twinkle (Fragment) 76 0
Pfam Domains KaiC
Mouse alleles (1)
Allele Name Allele Type
Peo1tm1(KOMP)Mbp KOMP-CSD-Project
Human Homolog C10orf2 (chromosome 10 open reading frame 2)
Human synonyms ATXN8; IOSCA; MTDPS7; PEO; PEO1; PEOA3; SANDO; SCA8; TWINL
Human cytoband 10q24
Known deafness gene No
Within mapped deafness loci DFNB57
Associated Human Disease in OMIM
Chicken homolog (1)
ENSGALG00000017627 (PEO1_CHICK) encoding ENSGALP00000028267
Gene Ontology
Biological Process (5) mitochondrial DNA replication; DNA duplex unwinding; DNA unwinding involved in replication; DNA replication; DNA replication
Cellular Component (4) mitochondrial nucleoid; mitochondrion; mitochondrion; mitochondrion
Molecular Function (7) ATP binding; DNA helicase activity; DNA helicase activity; hydrolase activity; nucleotide binding; helicase activity; ATP binding
FACS-Sorted Hair Cells
Data | Chart
E16a
E16b
P0
P4
P7
P16
Utricle GFP+ cells
34
13
53
106
157
19
Cochlea GFP+ cells
183
58
58
148
150
NA
Utricle GFP- cells
172
43
67
120
144
0
Cochlea GFP- cells
126
67
35
156
122
NA
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
GFP-
96
GFP+
89
0.93
0.963
Utricle
77
Cochlea
110
1.42
1
Embryonic
87
Postnatal
95
1.10
0.993
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)
17359787 19.00 ± 1.55 20.94 ± 4.16 [18.42] 1.10 0.82
Otic Progenitor Cells
Data
Growth Factor
Replicate 1
Replicate 2
Replicate 3
Mean
bFGF
2587
2606
2491
2140
No bFGF
2389
2467
2339
2197
EGF
2216
2056
1951
2074
Analysis
Condition A
Mean A
Condition B
Mean B
Fold Change (B/A)
False Discovery Rate (FDR)
bFGF
2140
No bFGF
2197
1.03
1
bFGF
2140
EGF
2074
0.97
0.842
No bFGF
2197
EGF
2074
0.94
0.758
Chicken Stereocilium Proteomics
The chicken protein was not reproducibly detected in the chicken stereocilia.
Auditory and Vestibular Ganglion Neurons
Probe set ID: 1434168_at
Age E12 E13 E16 P0 P6 P15
Spiral ganglion
Replicate 1 1443.2 1092.57 1366.17 1375.36 877.72 1354.15
Replicate 1 Call A P P A A P
Replicate 2 1445.73 1273.64 1725.84 1211.24 1242.36 690.78
Replicate 2 Call A P P A A A
Replicate 3 1360.1 1320.26 1755.65 1267.94 1116.91 1346.72
Replicate 3 Call A A P A A A
Replicate 4 1674.14 1416.59 1299.3 1425.49
Replicate 4 Call P A M A
Mean 1416.34 1228.82 1630.45 1317.78 1134.07 1204.29
Standard Deviation 48.72 120.28 179.38 94.72 187.12 344.17
Log2 Mean 10.47 10.26 10.66 10.36 10.13 10.18
Log2 Standard Deviation 0.05 0.15 0.17 0.1 0.25 0.5
 
Vestibular ganglion
Replicate 1 1539.97 1380.57 1020.17 946.64 984.74 865.07
Replicate 1 Call A P A A A P
Replicate 2 1482.45 1320.82 1180.79 950.92 867.85 732.1
Replicate 2 Call A P A A A P
Replicate 3 1405.81 1282.27 972.57 905.07 953.81 693.5
Replicate 3 Call A P A A A A
Mean 1476.08 1327.89 1057.84 934.21 935.47 763.56
Standard Deviation 67.31 49.53 109.1 25.33 60.57 90.01
Log2 Mean 10.53 10.37 10.04 9.87 9.87 9.57
Log2 Standard Deviation 0.07 0.05 0.15 0.04 0.09 0.17