Gene Gene information from NCBI Gene database.
Entrez ID 4289
Gene name Muskelin 1
Gene symbol MKLN1
Synonyms (NCBI Gene)
TWA2
Chromosome 7
Chromosome location 7q32.3
Summary 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.
1264
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605623 7109 ENSG00000128585
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acrodermatitis Dermatitis BEFREE 29565995
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 11762875
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 1 Androgenetic Alopecia GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 2 Androgenetic Alopecia GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 3 Androgenetic Alopecia GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern GWASCAT_DG 29146897
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia GWASCAT_DG 29146897
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder BEFREE 27769005
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 27769005
★★☆☆☆
Found in Text Mining + Unknown/Other Associations