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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 v... See more...
Aliases for TMEM59 Gene
Aliases for TMEM59 Gene
External Ids for TMEM59 Gene
- HGNC: 1239
- NCBI Entrez Gene: 9528
- Ensembl: ENSG00000116209
- OMIM®: 617084
- UniProtKB/Swiss-Prot: Q9BXS4
Previous HGNC Symbols for TMEM59 Gene
- C1orf8
Previous GeneCards Identifiers for TMEM59 Gene
- GC01M054210
- GC01M054269
- GC01M054497
- GC01M052613
Summaries for TMEM59 Gene
-
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]
GeneCards Summary for TMEM59 Gene
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.
UniProtKB/Swiss-Prot Summary for TMEM59 Gene
-
Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy (PubMed:27273576, PubMed:23376921). Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP (PubMed:20427278). Inhibits APP transport to the cell surface and further shedding (PubMed:20427278).
Additional gene information for TMEM59 Gene
- HGNC (1239)
- NCBI Entrez Gene (9528)
- Ensembl (ENSG00000116209)
- OMIM® (617084)
- UniProtKB/Swiss-Prot (Q9BXS4)
- Open Targets Platform(ENSG00000116209)
- Search for TMEM59 at DataMed
- Search for TMEM59 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM59 Gene
Genomics for TMEM59 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TMEM59 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TMEM59 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM59
- Top Transcription factor binding sites by QIAGEN in the TMEM59 gene promoter:
-
- Cdc5
- Evi-1
- FOXL1
- HNF-3beta
- IRF-7A
- LCR-F1
- NF-kappaB1
- Spz1
- STAT3
Genomic Locations for TMEM59 Gene
Latest Assembly
- chr1:54,026,681-54,053,573
- (GRCh38/hg38)
- Size:
- 26,893 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:54,492,354-54,519,246
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 26,893 bases
- Orientation:
- Minus strand
- chr1:54,497,347-54,519,177
- (GRCh37/hg19 by Ensembl)
- Size:
- 21,831 bases
- Orientation:
- Minus strand
Genomic View for TMEM59 Gene
Genes around TMEM59 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p32.3 by HGNC
- 1p32.3 by Entrez Gene
- 1p32.3 by Ensembl
TMEM59 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TMEM59 Gene
Proteins for TMEM59 Gene
-
Protein details for TMEM59 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BXS4-TMM59_HUMAN
- Recommended name:
- Transmembrane protein 59
- Protein Accession:
- Q9BXS4
- B3KQL7
- O75393
- Q4VBP9
- Q5T705
- Q96KX7
Protein attributes for TMEM59 Gene
- Size:
- 323 amino acids
- Molecular mass:
- 36223 Da
- Quaternary structure:
-
- Interacts with ATG16L1 (via WD repeats).
- SequenceCaution:
-
- Sequence=AAC39890.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH03106.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for TMEM59 Gene
Post-translational modifications for TMEM59 Gene
Other Protein References for TMEM59 Gene
Antibodies for research
- GeneTex Anti-TMEM59 antibody
- Novus Biologicals Antibodies for TMEM59
-
Abcam antibodies for TMEM59
- Invitrogen Antibodies for TMEM59 (AFLGC-TMEM59)
-
Boster Bio Antibodies for TMEM59
-
Custom Antibody ServicesProSci Antibodies for TMEM59
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for TMEM59
- Origene Custom Protein Services for TMEM59
- antibodies-online: Show 8 available TMEM59 Proteins ranked by validation data
- Compare Top TMEM59 Proteins
-
Quality Products:
-
Abcam proteins for TMEM59
Assay products for research
No data available for DME Specific Peptides for TMEM59 Gene
Domains & Families for TMEM59 Gene
Gene Families for TMEM59 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for TMEM59 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TMEM59 Gene
- GenScript: Design optimal peptide antigens:
-
- Transmembrane protein 59, isoform CRA_e (D3DQ48_HUMAN)
- TMEM59 protein (Q6P5R1_HUMAN)
- Liver membrane-bound protein (TMM59_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BXS4UniProtKB/Swiss-Prot:
TMM59_HUMAN :- The ATG16L1-binding motif mediates interaction with ATG16L1 and promotes autophagy.
- Belongs to the TMEM59 family.
- Domain:
-
- The ATG16L1-binding motif mediates interaction with ATG16L1 and promotes autophagy.
- Family:
-
- Belongs to the TMEM59 family.
Function for TMEM59 Gene
Molecular function for TMEM59 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy (PubMed:27273576, PubMed:23376921). Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP (PubMed:20427278). Inhibits APP transport to the cell surface and further shedding (PubMed:20427278).
Phenotypes From GWAS Catalog for TMEM59 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 23376921 |
Phenotypes for TMEM59 Gene
- MGI mutant phenotypes for TMEM59:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TMEM59:
Animal Models for TMEM59 Gene
- MGI Knock Outs for TMEM59:
-
- Tmem59 Tmem59<tm1.1Tqw>
Animal Models for research
-
Taconic Biosciences Mouse Models for TMEM59
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TMEM59 - Starting at $85 >
- * TMEM59 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TMEM59
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM59
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM59
miRNA for TMEM59 Gene
- miRTarBase miRNAs that target TMEM59
-
- hsa-miR-30a-5p (MIRT005138)
- hsa-miR-149-5p (MIRT045645)
- hsa-miR-1260b (MIRT052744)
- hsa-miR-142-3p (MIRT439429)
- hsa-miR-1200 (MIRT492053)
- hsa-miR-378a-5p (MIRT492054)
- hsa-miR-616-3p (MIRT492055)
- hsa-miR-6073 (MIRT492056)
- hsa-miR-3140-5p (MIRT492057)
- hsa-miR-584-3p (MIRT492058)
- hsa-miR-3974 (MIRT492059)
- hsa-miR-7852-3p (MIRT492060)
- hsa-miR-548m (MIRT492061)
- hsa-miR-550b-2-5p (MIRT520572)
- hsa-miR-6807-5p (MIRT520573)
- hsa-miR-7151-3p (MIRT520574)
- hsa-miR-5095 (MIRT520575)
- hsa-miR-550a-5p (MIRT520576)
- hsa-miR-550a-3-5p (MIRT520577)
- hsa-miR-1271-3p (MIRT520578)
- hsa-miR-8077 (MIRT520579)
- hsa-miR-661 (MIRT520580)
- hsa-miR-3116 (MIRT520581)
- hsa-miR-1254 (MIRT520582)
- hsa-miR-4252 (MIRT520583)
- hsa-miR-6889-3p (MIRT520584)
- hsa-miR-6504-5p (MIRT520585)
- hsa-miR-3064-5p (MIRT520586)
- hsa-miR-4438 (MIRT520587)
- hsa-miR-3680-3p (MIRT613946)
- hsa-miR-557 (MIRT613947)
- hsa-miR-507 (MIRT613948)
- hsa-miR-450b-5p (MIRT613949)
- hsa-miR-19b-2-5p (MIRT613950)
- hsa-miR-19b-1-5p (MIRT613951)
- hsa-miR-19a-5p (MIRT613952)
- hsa-miR-7160-5p (MIRT613953)
- hsa-miR-4663 (MIRT613954)
- hsa-miR-4711-5p (MIRT613955)
- hsa-miR-7112-3p (MIRT613956)
- hsa-miR-93-3p (MIRT613957)
- hsa-miR-6761-5p (MIRT613958)
- hsa-miR-4328 (MIRT613959)
- hsa-miR-4698 (MIRT613960)
- hsa-miR-8063 (MIRT613961)
- hsa-miR-383-5p (MIRT613962)
- hsa-miR-522-3p (MIRT613963)
- hsa-miR-224-3p (MIRT613964)
- hsa-miR-133a-3p (MIRT637224)
- hsa-miR-670-5p (MIRT637225)
- hsa-miR-4281 (MIRT637226)
- hsa-miR-591 (MIRT637227)
- hsa-miR-4319 (MIRT637228)
- hsa-miR-125b-5p (MIRT637229)
- hsa-miR-125a-5p (MIRT637230)
- hsa-miR-4732-3p (MIRT637231)
- hsa-miR-345-3p (MIRT637232)
- hsa-miR-6884-3p (MIRT637233)
- hsa-miR-548s (MIRT662986)
- hsa-miR-3926 (MIRT662987)
- hsa-miR-5189-3p (MIRT662988)
- hsa-miR-4786-5p (MIRT662989)
- hsa-miR-4299 (MIRT662990)
- hsa-miR-7162-3p (MIRT662991)
- hsa-miR-544b (MIRT662992)
- hsa-miR-4433a-3p (MIRT662993)
- hsa-miR-4459 (MIRT662994)
- hsa-miR-4768-3p (MIRT662995)
- hsa-miR-3622b-3p (MIRT662996)
- hsa-miR-3622a-3p (MIRT662997)
- hsa-miR-490-3p (MIRT662998)
- hsa-miR-4722-5p (MIRT662999)
- hsa-miR-6134 (MIRT663000)
- hsa-miR-6884-5p (MIRT663001)
- hsa-miR-485-5p (MIRT663002)
- hsa-miR-4257 (MIRT663003)
- hsa-miR-6847-5p (MIRT663004)
- hsa-miR-940 (MIRT663005)
- hsa-miR-6893-5p (MIRT663006)
- hsa-miR-6808-5p (MIRT663007)
- hsa-miR-665 (MIRT674695)
- hsa-miR-6771-5p (MIRT674696)
- hsa-miR-1827 (MIRT674697)
- hsa-miR-4649-3p (MIRT674698)
- hsa-miR-6746-5p (MIRT674699)
- hsa-miR-4478 (MIRT674700)
- hsa-miR-4419b (MIRT674701)
- hsa-miR-3929 (MIRT674702)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM59
- Browse OriGene Inhibitory RNA Products For TMEM59
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM59
Clone products for research
- Applied Biological Materials (abm): Clones for TMEM59 - Starting at $45 >
- * TMEM59 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TMEM59
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM59
Cell Lines for research
-
Horizon Cell Lines for TMEM59
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM59 Gene
Localization for TMEM59 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TMEM59 Gene
- Late endosome membrane. Single-pass type I membrane protein. Lysosome membrane. Single-pass type I membrane protein. Cell membrane. Single-pass type I membrane protein. Golgi apparatus membrane. Single-pass type I membrane protein. Note=Mainly localizes to late endosomes/lysosomes. Probably first exported to the cell surface and then actively endocytosed to transiently localize in early endosomes on its way to the late endosomal/lysosomal compartment where it becomes quickly degraded. {ECO:0000269 PubMed:23376921}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endosome | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| plasma membrane | 3 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM59 Gene
Pathways & Interactions for TMEM59 Gene
Interacting Proteins for TMEM59 Gene
Selected Interacting proteins:
Q9BXS4-TMM59_HUMAN
ENSP00000234831
for TMEM59 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TMEM59
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for TMEM59 Gene
Transcripts for TMEM59 Gene
mRNA/cDNA for TMEM59 Gene
- 7 REFSEQ mRNAs :
- 27 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000234831 6457 nts (view in UCSC)
- ENST00000371337 600 nts (view in UCSC)
- ENST00000371341 1116 nts (view in UCSC)
- ENST00000371344 2473 nts (view in UCSC)
- ENST00000371348 1911 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TMEM59 - Starting at $85 >
- * TMEM59 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TMEM59
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM59
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM59
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM59
- Browse OriGene Inhibitory RNA Products For TMEM59
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM59
Clone products for research
- Applied Biological Materials (abm): Clones for TMEM59 - Starting at $45 >
- * TMEM59 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for TMEM59
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM59
| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: | |||||
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| SP13: | |||||
| SP14: | |||||
| SP15: | |||||
| SP16: | |||||
| SP17: |
Relevant External Links for TMEM59 Gene
- GeneLoc Exon Structure for
- TMEM59
Expression for TMEM59 Gene
This gene is overexpressed in Bone (44.2) and Placenta (17.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM59 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM59
SOURCE GeneReport for Unigene cluster for TMEM59 Gene:
Hs.523262Evidence on tissue expression from TISSUES for TMEM59 Gene
- Nervous system(5)
- Lung(4.8)
- Blood(4.5)
- Pancreas(3.9)
- Intestine(3.7)
- Kidney(3.5)
- Eye(3.1)
- Spleen(2.7)
- Lymph node(2.7)
- Skin(2.6)
- Liver(2.5)
- Stomach(2.4)
- Adrenal gland(2.2)
- Thyroid gland(2.2)
- Gall bladder(2.1)
- Heart(2)
- Muscle(2)
Primer products for research
-
OriGene qPCR primer pairs for TMEM59
-
OriGene qPCR primer pairs and template standards for TMEM59
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM59 Gene
Orthologs for TMEM59 Gene
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 |
- Species where no ortholog for TMEM59 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for TMEM59 Gene
- ENSEMBL:
- Gene Tree for TMEM59 (if available)
- TreeFam:
- Gene Tree for TMEM59 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMEM59: view image
Paralogs for TMEM59 Gene
Variants for TMEM59 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM59 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.76;
33.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TMEM59 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- TMEM59
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM59 Gene
Disorders for TMEM59 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| estrogen resistance |
|
|
| deafness, autosomal recessive 68 |
|
|
| deafness, autosomal recessive 15 |
|
|
Search TMEM59 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TMEM59
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM59 Gene
Publications for TMEM59 Gene
- TMEM59 defines a novel ATG16L1-binding motif that promotes local activation of LC3. (PMID: 23376921) Boada-Romero E … Pimentel-Muiños FX (The EMBO journal 2013) 2 3 4
- The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1. (PMID: 27273576) Boada-Romero E … Pimentel-Muiños FX (Nature communications 2016) 3 4
- The novel membrane protein TMEM59 modulates complex glycosylation, cell surface expression, and secretion of the amyloid precursor protein. (PMID: 20427278) Ullrich S … Lichtenthaler SF (The Journal of biological chemistry 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
ExternalLinks
Products for TMEM59 Gene
- Custom Antibody Services
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- Find your next knockout model in the Taconic Knockout Repository
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- antibodies-online: Show 4 available TMEM59 Antibodies ranked by validation data
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM59
- Boster Bio Antibodies for TMEM59
- Browse Boster Bio ELISA Kits
Sources for TMEM59 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (30) HomoloGene
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- (32) euGenes
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- (64) Proteopedia
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (77) ESI-BIO
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- (104) diseasecard
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