MKLN1 - muskelin 1 Gene

Homo sapiens

Also known as TWA2

Gene ID: 4289 | Gene type: protein coding

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	Reference	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	Reference	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

Kelch_3

Kelch_4

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08472	MKLN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.