Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4289 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Muskelin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MKLN1 |
SynonymsGene synonyms aliases
|
TWA2 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7q32.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008] |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9UL63 |
Protein name |
Muskelin |
Protein function |
Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internali |
PDB |
8TTQ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF06588 |
Muskelin_N |
12 → 207 |
Muskelin N-terminus |
Family |
PF13415 |
Kelch_3 |
282 → 334 |
|
Domain |
PF01344 |
Kelch_1 |
459 → 498 |
Kelch motif |
Repeat |
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Sequence |
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Sequence length |
735 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Lung carcinoma |
Carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 |
28604730 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
|
28196072 |
Alopecia, male pattern |
Alopecia, Male Pattern |
|
29146897 |
Androgenetic alopecia |
Androgenetic Alopecia, Alopecia, Androgenetic, 3, Alopecia, Androgenetic, 2, Alopecia, Androgenetic, 1 |
|
29146897 |
Bipolar disorder |
Bipolar Disorder |
|
27769005 |
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