MKLN1 - muskelin 1 Gene

Also Known as TWA2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4289

About MKLN1

Cytogenetic location: 7q32.3 Genomic coordinates (GRCh38): 7:131,110,094-131,496,632 (from NCBI)

This gene has 12 transcripts (splice variants) and 214 orthologues. Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues.

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]

MKLN1 Products (3)

mRNA Protein Name
NM_001145354.2 NP_001138826.1 muskelin isoform 1
NM_001321316.2 NP_001308245.1 muskelin isoform 3
NM_013255.5 NP_037387.2 muskelin isoform 2

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
17467196 GOA
part of ubiquitin ligase complex IDA
IDA: Inferred from direct assay
29911972 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MKLN1 Protein Structure

Muskelin_N

Muskelin_N: Muskelin N-terminus (12 - 207)

Kelch_3

Kelch_3: Galactose oxidase, central domain (283 - 333)

Kelch_4

Kelch_4: Galactose oxidase, central domain (456 - 495)

  • 0
  • 200
  • 400
  • 600
  • 735 a.a.
Protein Preferred Names Protein Names

muskelin

  • muskelin 1, intracellular mediator containing kelch motifs

MKLN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MKLN1 Q9UL63 CYREN Homo sapiens Q9BWK5
Y2H Prey Pooling
32296183
Intra
MKLN1 Q9UL63 ARMC8 Homo sapiens Q8IUR7
TAP
27173435
Intra
MKLN1 Q9UL63 CYREN Homo sapiens Q9BWK5
Y2H Array
32296183
Intra
MKLN1 Q9UL63 RANBP9 Homo sapiens Q96S59
TAP
27173435
Intra
MKLN1 Q9UL63 RMND5A Homo sapiens Q9H871
TAP
27173435
Intra
MKLN1 Q9UL63 ZMYND19 Homo sapiens Q96E35
TAP
27173435
Intra
MKLN1 Q9UL63 MKLN1 Homo sapiens Q9UL63
Y2H Prey Pooling
32296183
Intra
MKLN1 Q9UL63 ZBTB2 Homo sapiens Q8N680
Y2H Prey Pooling
32296183
Intra
MKLN1 Q9UL63 ZBTB2 Homo sapiens Q8N680
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Acrodermatitis
Lissencephaly 1

  • LIS1

  • Classic Lissencephaly

  • Ils

  • Subcortical Laminar Heterotopia

  • Lissencephaly Due To Lis1 Mutation

  • Lissencephaly Sequence, Isolated

  • Lissencephaly, Classic

  • Pafah1b1-Related Lissencephaly

  • Classical Lissencephaly

  • Lissencephaly Type 1

  • Lissencephaly-1

  • Subcortical Band Heterotopia

  • Double Cortex

  • Lissencephaly Classic

  • Lissencephaly Sequence Isolated

  • Isolated Lissencephaly Sequence

  • Type 1 Lissencephaly

  • Lissencephaly Syndrome Type 1

  • SBH

  • Sclh

  • Lissencephaly, Type 1

  • Type I Lissencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08472 MKLN1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MKLN1 RGD RGD:620076
Bos taurus MKLN1 VGNC VGNC:31490
Canis familiaris MKLN1 VGNC VGNC:43250
Mus musculus MKLN1 MGD MGI:1351638
Felis catus MKLN1 VGNC VGNC:68262
Macaca mulatta MKLN1 VGNC VGNC:74875
Others MKLN1 NCBI