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MKLN1 (muskelin 1)

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.
miRTarBase ID miRNA Experiments Reference
MIRT022004 hsa-miR-128-3p Sequencing 20371350
MIRT022639 hsa-miR-124-3p Microarray 18668037
MIRT027314 hsa-miR-101-3p Sequencing 20371350
MIRT028726 hsa-miR-27a-3p Sequencing 20371350
MIRT048420 hsa-miR-100-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IDA 29911972
GO:0001726 Component Ruffle ISS
GO:0002090 Process Regulation of receptor internalization ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MAAGGAVAAAPECRLLPYALHKWSSFSSTYLPENILVDKPNDQSSRWSSESNYPPQYLIL
KLERPAIVQNITFGKYEKTHVCNLKKFKVFGGMNEENMTELLSSGLKNDYNKETFTLKHK
IDEQMFPCRFIKIVPLLSWGPSFNFSIWYVELSGIDDPDIVQPCLNWYSKYREQEAIRLC
LKHFRQHNYTEAFESLQKKTKIALEHP
MLTDIHDKLVLKGDFDACEELIEKAVNDGLFNQ
YISQQEYKPRWSQIIPKSTKGDGEDNRPGMRGGHQMVIDVQTETVYLFGGWDGTQDLADF
WAYSVKENQWTCISRDTEKENGPSARSCHKMCID
IQRRQIYTLGRYLDSSVRNSKSLKSD
FYRYDIDTNTWMLLSEDTAADGGPKLVFDHQMCMDSEKHMIYTFGGRILTCNGSVDDSRA
SEPQFSGLFAFNCQCQTWKLLREDSCNAGPEDIQSRIGHCMLFHSKNRCLYVFGGQRSKT
YLNDFFSYDVDSDHVDII
SDGTKKDSGMVPMTGFTQRATIDPELNEIHVLSGLSKDKEKR
EENVRNSFWIYDIVRNSWSCVYKNDQAAKDNPTKSLQEEEPCPRFAHQLVYDELHKVHYL
FGGNPGKSCSPKMRLDDFWSLKLCRPSKDYLLRHCKYLIRKHRFEEKAQVDPLSALKYLQ
NDLYITVDHSDPEETKEFQLLASALFKSGSDFTALGFSDVDHTYAQRTQLFDTLVNFFPD
SMTPPKGNLVDLITL
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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