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This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
TMEM59 (Transmembrane Protein 59) is a Protein Coding gene. Diseases associated with TMEM59 include Estrogen Resistance and Deafness, Autosomal Recessive 68. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase activity. An important paralog of this gene is TMEM59L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 23376921 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000137 | Golgi cis cisterna | IDA | 20427278 |
GO:0000138 | Golgi trans cisterna | IDA | 20427278 |
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005764 | lysosome | IBA,IDA | 23376921 |
GO:0005765 | lysosomal membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0006914 | autophagy | IEA | -- |
GO:0010508 | positive regulation of autophagy | IMP | 23376921 |
GO:0010955 | negative regulation of protein processing | IDA | 20427278 |
GO:0090285 | negative regulation of protein glycosylation in Golgi | IDA | 20427278 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP17: | - | - | - |
ExUns: | 10d | · | 10e | · | 10f |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: | |||||
SP13: | |||||
SP14: | |||||
SP15: | |||||
SP16: | |||||
SP17: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TMEM59 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TMEM59 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TMEM59 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tmem59 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1310313 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TMEM59 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TMEM59 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TMEM59 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem59 30 |
|
||
Str.6280 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.29361 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tmem59 30 31 |
|
OneToOne | |
Dr.5932 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3043 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs776119905 | Risk Factor: Estrogen resistance | 54,032,127(-) |
C/T NM_004872.5(TMEM59):c.*23G>A |
THREE_PRIME_UTR | |
rs41294776 | - |
p.Ala46Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1003904 | CNV | gain | 25217958 |
nsv1011262 | CNV | gain | 25217958 |
nsv475372 | CNV | novel sequence insertion | 20440878 |
nsv477511 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
estrogen resistance |
|
|
deafness, autosomal recessive 68 |
|
|
deafness, autosomal recessive 15 |
|
|