Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TMEM53 | Dog | craniotubular dysplasia Ikegawa type | | ISO | TMEM53 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TMEM53 | Dog | craniotubular dysplasia Ikegawa type | | ISO | TMEM53 (Homo sapiens) | 7240710 | | OMIM | | |
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TMEM53 (Canis lupus familiaris - dog) |
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TMEM53 (Homo sapiens - human) |
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Tmem53 (Mus musculus - house mouse) |
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Tmem53 (Rattus norvegicus - Norway rat) |
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Tmem53 (Chinchilla lanigera - long-tailed chinchilla) |
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TMEM53 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Tmem53 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TMEM53 (Sus scrofa - pig) |
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TMEM53 (Chlorocebus sabaeus - green monkey) |
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Tmem53 (Heterocephalus glaber - naked mole-rat) |
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Variants in TMEM53
299 total Variants |
adipose tissue
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alimentary part of gastrointestinal system
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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reproductive system
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respiratory system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
6 | 5 | 5 | 23 | 22 | 16 | 6 | 6 | 6 | 6 | 33 | 22 | 12 | 14 | 10 |
Ensembl Acc Id: | ENSCAFT00000037053 ⟹ ENSCAFP00000032501 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00000046361 ⟹ ENSCAFP00000036595 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00000088814 ⟹ ENSCAFP00000045884 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00000093453 ⟹ ENSCAFP00000045581 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00845047587 ⟹ ENSCAFP00845037342 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00845047608 ⟹ ENSCAFP00845037359 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00845047631 ⟹ ENSCAFP00845037377 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSCAFT00845047672 ⟹ ENSCAFP00845037407 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005629089 ⟹ XP_005629146 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_022428035 ⟹ XP_022283743 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038452174 ⟹ XP_038308102 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038452175 ⟹ XP_038308103 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038495924 ⟹ XP_038351852 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038495926 ⟹ XP_038351854 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038495927 ⟹ XP_038351855 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038495928 ⟹ XP_038351856 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038558298 ⟹ XP_038414226 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038558299 ⟹ XP_038414227 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038558300 ⟹ XP_038414228 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038558301 ⟹ XP_038414229 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038622188 ⟹ XP_038478116 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038622189 ⟹ XP_038478117 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038622190 ⟹ XP_038478118 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038622191 ⟹ XP_038478119 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038687918 ⟹ XP_038543846 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038687919 ⟹ XP_038543847 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038687920 ⟹ XP_038543848 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038687921 ⟹ XP_038543849 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XP_005629146 ⟸ XM_005629089 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0QF73 (UniProtKB/TrEMBL), A0A8C0KXK5 (UniProtKB/TrEMBL), A0A8I3PRA6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022283743 ⟸ XM_022428035 |
- Peptide Label: | isoform X2 |
- Sequence: |
Ensembl Acc Id: | ENSCAFP00000045884 ⟸ ENSCAFT00000088814 |
Ensembl Acc Id: | ENSCAFP00000045581 ⟸ ENSCAFT00000093453 |
Ensembl Acc Id: | ENSCAFP00000032501 ⟸ ENSCAFT00000037053 |
Ensembl Acc Id: | ENSCAFP00000036595 ⟸ ENSCAFT00000046361 |
RefSeq Acc Id: | XP_038351852 ⟸ XM_038495924 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038351855 ⟸ XM_038495927 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038351854 ⟸ XM_038495926 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038351856 ⟸ XM_038495928 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038478116 ⟸ XM_038622188 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038478118 ⟸ XM_038622190 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038478117 ⟸ XM_038622189 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038478119 ⟸ XM_038622191 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038543846 ⟸ XM_038687918 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0QF73 (UniProtKB/TrEMBL), A0A8C0KXK5 (UniProtKB/TrEMBL), A0A8I3PRA6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038543848 ⟸ XM_038687920 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038543847 ⟸ XM_038687919 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038543849 ⟸ XM_038687921 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038308103 ⟸ XM_038452175 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038308102 ⟸ XM_038452174 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038414226 ⟸ XM_038558298 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0KXK5 (UniProtKB/TrEMBL), A0A8C0QF73 (UniProtKB/TrEMBL), A0A8I3PRA6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038414228 ⟸ XM_038558300 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038414227 ⟸ XM_038558299 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038414229 ⟸ XM_038558301 |
- Peptide Label: | isoform X2 |
Ensembl Acc Id: | ENSCAFP00845037359 ⟸ ENSCAFT00845047608 |
Ensembl Acc Id: | ENSCAFP00845037377 ⟸ ENSCAFT00845047631 |
Ensembl Acc Id: | ENSCAFP00845037407 ⟸ ENSCAFT00845047672 |
Ensembl Acc Id: | ENSCAFP00845037342 ⟸ ENSCAFT00845047587 |
RGD ID: | 13685917 | ||||||||
Promoter ID: | EPDNEW_C3985 | ||||||||
Type: | initiation region | ||||||||
Name: | TMEM53_1 | ||||||||
Description: | transmembrane protein 53 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000004791 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030014309 | UniProtKB/TrEMBL | |
ENSCAFG00040004732 | UniProtKB/TrEMBL | |
ENSCAFG00845026997 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000046361.3 | UniProtKB/TrEMBL |
ENSCAFT00000088814.2 | UniProtKB/TrEMBL | |
ENSCAFT00000093453.2 | UniProtKB/TrEMBL | |
ENSCAFT00000101231.1 | UniProtKB/TrEMBL | |
ENSCAFT00030026507.1 | UniProtKB/TrEMBL | |
ENSCAFT00030026723.1 | UniProtKB/TrEMBL | |
ENSCAFT00030026758.1 | UniProtKB/TrEMBL | |
ENSCAFT00030026803.1 | UniProtKB/TrEMBL | |
ENSCAFT00040008927.1 | UniProtKB/TrEMBL | |
ENSCAFT00040009021.1 | UniProtKB/TrEMBL | |
ENSCAFT00040009034.1 | UniProtKB/TrEMBL | |
ENSCAFT00040009072.1 | UniProtKB/TrEMBL | |
ENSCAFT00845047587.1 | UniProtKB/TrEMBL | |
ENSCAFT00845047608.1 | UniProtKB/TrEMBL | |
ENSCAFT00845047631 | ENTREZGENE | |
ENSCAFT00845047631.1 | UniProtKB/TrEMBL | |
ENSCAFT00845047672.1 | UniProtKB/TrEMBL | |
InterPro | AB_hydrolase | UniProtKB/TrEMBL |
DUF829_TMEM53 | UniProtKB/TrEMBL | |
KEGG Report | cfa:482522 | UniProtKB/TrEMBL |
NCBI Gene | TMEM53 | ENTREZGENE |
PANTHER | PTHR12265 | UniProtKB/TrEMBL |
TRANSMEMBRANE PROTEIN 53 | UniProtKB/TrEMBL | |
Pfam | DUF829 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53474 | UniProtKB/TrEMBL |
UniProt | A0A8C0KXK5 | ENTREZGENE |
A0A8C0N8W0_CANLF | UniProtKB/TrEMBL | |
A0A8C0Q9U1_CANLF | UniProtKB/TrEMBL | |
A0A8C0Q9V1_CANLF | UniProtKB/TrEMBL | |
A0A8C0QF73 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PRA6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PZU8_CANLF | UniProtKB/TrEMBL | |
A0A8I3PZX8_CANLF | UniProtKB/TrEMBL | |
A0A8I3Q0A1_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:47587 | ENTREZGENE |