Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4289
Gene name Gene Name - the full gene name approved by the HGNC.
Muskelin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MKLN1
Synonyms (NCBI Gene) Gene synonyms aliases
TWA2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.3
Summary Summary 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]
miRNA miRNA 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 IEA
GO:0001726 Component Ruffle ISS
GO:0002090 Process Regulation of receptor internalization ISS
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605623 7109 ENSG00000128585
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30936085
Carcinoma Hepatocellular Associate 34095306, 36685508, 38185671, 39210306
Carcinoma Hepatocellular Stimulate 36195857
Leukemia Myeloid Acute Associate 30760869
Neoplasms Associate 36305248
Tuberculosis Associate 35301169
Waldenstrom Macroglobulinemia Associate 24366360