InnateDB Protein
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IDBP-19349.5
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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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TMEM165
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Protein Name
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transmembrane protein 165
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000370736
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InnateDB Gene
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IDBG-19347 (TMEM165)
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Protein Structure
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Function |
May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation. {ECO:0000269PubMed:22683087, ECO:0000269PubMed:23569283}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, trans- Golgi network membrane. Lysosome membrane. Early endosome membrane. Late endosome membrane.
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Disease Associations |
Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]: An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:22683087, ECO:0000269PubMed:23430531}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed. {ECO:0000269PubMed:22683087}.
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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 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[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 |
IPR001727
Uncharacterised protein family UPF0016
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PFAM |
PF01169
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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 |
Q9HC07
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PhosphoSite |
PhosphoSite-Q9HC07
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55858
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UniGene |
Hs.603333
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RefSeq |
NP_060945
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HUGO |
HGNC:30760
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OMIM |
614726
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CCDS |
CCDS3499
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HPRD |
18216
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IMGT |
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EMBL |
AF132746
AF183409
AF220188
AK290663
BC003545
BC104978
BC104980
BC107582
CH471057
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GenPept |
AAF67653
AAG09678
AAH03545
AAI04979
AAI04981
AAI07583
AAL75947
BAF83352
EAX05467
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