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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | craniotubular dysplasia Ikegawa type | | IAGP | | 13592920 | OMIM:619727 | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | craniotubular dysplasia Ikegawa type | | IAGP | | 13592920 | OMIM:619727 | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
3. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:16141072 | PMID:16141073 | PMID:17971504 | PMID:20091084 | PMID:21677750 | PMID:30550785 | PMID:33824347 |
Tmem53 (Mus musculus - house mouse) |
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TMEM53 (Homo sapiens - human) |
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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 (Canis lupus familiaris - dog) |
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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
528 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RefSeq Transcripts | NM_001285812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001285814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001285815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001285816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_026837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_029589 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030253755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK004164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK005104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK005885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL671866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL844169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW049729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC019937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC039805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE647557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000062824 ⟹ ENSMUSP00000061523 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000106433 ⟹ ENSMUSP00000102041 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000106434 ⟹ ENSMUSP00000102042 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000125943 ⟹ ENSMUSP00000121458 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000145836 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000154449 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001285812 ⟹ NP_001272741 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001285814 ⟹ NP_001272743 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001285815 ⟹ NP_001272744 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001285816 ⟹ NP_001272745 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_026837 ⟹ NP_081113 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_029589 ⟹ NP_083865 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030253755 ⟹ XP_030109615 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001272741 | (Get FASTA) | NCBI Sequence Viewer |
NP_001272743 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001272744 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001272745 | (Get FASTA) | NCBI Sequence Viewer | |
NP_081113 | (Get FASTA) | NCBI Sequence Viewer | |
NP_083865 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030109615 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH19937 | (Get FASTA) | NCBI Sequence Viewer |
AAH20121 | (Get FASTA) | NCBI Sequence Viewer | |
BAB23200 | (Get FASTA) | NCBI Sequence Viewer | |
BAB24300 | (Get FASTA) | NCBI Sequence Viewer | |
EDL30556 | (Get FASTA) | NCBI Sequence Viewer | |
EDL30557 | (Get FASTA) | NCBI Sequence Viewer | |
EDL30558 | (Get FASTA) | NCBI Sequence Viewer | |
Q9D0Z3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_081113 ⟸ NM_026837 |
- Peptide Label: | isoform b |
- UniProtKB: | Q9DAF0 (UniProtKB/Swiss-Prot), Q9D0Z3 (UniProtKB/Swiss-Prot), A0A6P5PJ83 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001272741 ⟸ NM_001285812 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9D0Z3 (UniProtKB/Swiss-Prot), A0A6P5PQH4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001272744 ⟸ NM_001285815 |
- Peptide Label: | isoform d |
- UniProtKB: | Q9D0Z3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001272743 ⟸ NM_001285814 |
- Peptide Label: | isoform c |
- UniProtKB: | Q9D0Z3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001272745 ⟸ NM_001285816 |
- Peptide Label: | isoform d |
- UniProtKB: | Q9D0Z3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_083865 ⟸ NM_029589 |
- Peptide Label: | isoform c |
- UniProtKB: | Q9D0Z3 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_030109615 ⟸ XM_030253755 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | ENSMUSP00000121458 ⟸ ENSMUST00000125943 |
RefSeq Acc Id: | ENSMUSP00000102042 ⟸ ENSMUST00000106434 |
RefSeq Acc Id: | ENSMUSP00000102041 ⟸ ENSMUST00000106433 |
RefSeq Acc Id: | ENSMUSP00000061523 ⟸ ENSMUST00000062824 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9D0Z3-F1-model_v2 | AlphaFold | Q9D0Z3 | 1-276 | view protein structure |
RGD ID: | 6836535 | ||||||||
Promoter ID: | MM_KWN:39236 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day3, MEF_B4 | ||||||||
Transcripts: | ENSMUST00000106433, ENSMUST00000106434, OTTMUST00000023093, OTTMUST00000023097, OTTMUST00000023098 | ||||||||
Position: |
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RGD ID: | 6836536 | ||||||||
Promoter ID: | MM_KWN:39237 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Kidney, Lung | ||||||||
Transcripts: | ENSMUST00000106432, OTTMUST00000023096 | ||||||||
Position: |
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RGD ID: | 6884364 | ||||||||
Promoter ID: | EPDNEW_M5633 | ||||||||
Type: | initiation region | ||||||||
Name: | Tmem53_1 | ||||||||
Description: | Mus musculus transmembrane protein 53 , transcript variant 3,mRNA. | ||||||||
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) |
AGR Gene | MGI:1916027 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000048772 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000061523 | ENTREZGENE |
ENSMUSP00000061523.6 | UniProtKB/Swiss-Prot | |
ENSMUSP00000102041 | ENTREZGENE | |
ENSMUSP00000102041.2 | UniProtKB/Swiss-Prot | |
ENSMUSP00000102042 | ENTREZGENE | |
ENSMUSP00000102042.2 | UniProtKB/Swiss-Prot | |
ENSMUSP00000121458 | ENTREZGENE | |
ENSMUSP00000121458.2 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000062824 | ENTREZGENE |
ENSMUST00000062824.12 | UniProtKB/Swiss-Prot | |
ENSMUST00000106433 | ENTREZGENE | |
ENSMUST00000106433.2 | UniProtKB/Swiss-Prot | |
ENSMUST00000106434 | ENTREZGENE | |
ENSMUST00000106434.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000125943 | ENTREZGENE | |
ENSMUST00000125943.8 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.1820 | UniProtKB/Swiss-Prot |
InterPro | AB_hydrolase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DUF829_TMEM53 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:68777 | UniProtKB/Swiss-Prot |
MGD | MGI:1916027 | ENTREZGENE |
NCBI Gene | 68777 | ENTREZGENE |
PANTHER | PTHR12265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TRANSMEMBRANE PROTEIN 53 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DUF829 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Tmem53 | PhenoGen |
PROSITE | PROKAR_LIPOPROTEIN | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53474 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0A0MQK8_MOUSE | UniProtKB/TrEMBL |
A0A6P5PJ83 | ENTREZGENE | |
A0A6P5PQH4 | ENTREZGENE | |
Q9D0Z3 | ENTREZGENE | |
Q9DAF0 | ENTREZGENE | |
TMM53_MOUSE | UniProtKB/Swiss-Prot | |
UniProt Secondary | A2AE66 | UniProtKB/Swiss-Prot |
Q8VDW5 | UniProtKB/Swiss-Prot | |
Q9DAF0 | UniProtKB/Swiss-Prot |