InnateDB Protein
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IDBP-245598.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TMC6
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Protein Name
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transmembrane channel-like 6
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Synonyms
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EV1; EVER1; EVIN1; LAK-4P;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000376260
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InnateDB Gene
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IDBG-70375 (TMC6)
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Protein Structure
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Function |
Probable ion channel. {ECO:0000250}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:12426567}; Multi-pass membrane protein {ECO:0000269PubMed:12426567}.
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Disease Associations |
Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions. {ECO:0000269PubMed:12426567, ECO:0000269PubMed:15042430}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes. {ECO:0000269PubMed:12906855, ECO:0000269Ref.3}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR012496
TMC
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PFAM |
PF07810
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z403
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PhosphoSite |
PhosphoSite-Q7Z403
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TrEMBL |
Q96I77
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UniProt Splice Variant |
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Entrez Gene |
11322
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UniGene |
Hs.632227
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RefSeq |
XP_005257052
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HUGO |
HGNC:18021
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OMIM |
605828
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CCDS |
CCDS32748
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HPRD |
08386
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IMGT |
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EMBL |
AB002405
AC021593
AK021738
AK074065
AY057379
AY099356
AY099357
AY236496
BC007766
BC018346
BC023597
BC035648
CH471099
DQ104440
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GenPept |
AAH07766
AAH18346
AAH23597
AAH35648
AAL25836
AAM44452
AAM44453
AAP69874
AAZ20186
BAA24179
BAB13884
BAB84891
EAW89487
EAW89489
EAW89490
EAW89491
EAW89493
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