TTC7B (tetratricopeptide repeat domain 7B)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
145567 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Tetratricopeptide repeat domain 7B |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
TTC7B |
SynonymsGene synonyms aliases
|
TTC7L1, c14_5685 |
ChromosomeChromosome number
|
14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q32.11 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q86TV6 |
Protein name |
Tetratricopeptide repeat protein 7B (TPR repeat protein 7B) (Tetratricopeptide repeat protein 7-like-1) (TPR repeat protein 7-like-1) |
Protein function |
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging |
PDB |
5DSE
,
6BQ1
,
9B9G
,
9BAX
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13181 |
TPR_8 |
397 → 430 |
Tetratricopeptide repeat |
Repeat |
PF12895 |
ANAPC3 |
494 → 575 |
|
Domain |
PF13424 |
TPR_12 |
728 → 795 |
|
Repeat |
PF13181 |
TPR_8 |
798 → 831 |
Tetratricopeptide repeat |
Repeat |
|
Sequence |
|
Sequence length |
843 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Melanoma |
Cutaneous Melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
30429480 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Malignant melanoma of skin |
Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb |
rs16891982 |
30429480 |
|
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