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Aliases for MKLN1 Gene

Aliases for MKLN1 Gene

  • Muskelin 1, Intracellular Mediator Containing Kelch Motifs 2 3
  • Muskelin 3
  • TWA2 3

External Ids for MKLN1 Gene

Summaries for MKLN1 Gene

Entrez Gene Summary for MKLN1 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]

GeneCards Summary for MKLN1 Gene

MKLN1 (Muskelin 1, Intracellular Mediator Containing Kelch Motifs) is a Protein Coding gene.

UniProtKB/Swiss-Prot for MKLN1 Gene

  • Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1.

Gene Wiki entry for MKLN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKLN1 Gene

Genomics for MKLN1 Gene

Genomic Location for MKLN1 Gene

Start:
131,110,096 bp from pter
End:
131,496,639 bp from pter
Size:
386,544 bases
Orientation:
Plus strand

Genomic View for MKLN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MKLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKLN1 Gene

Regulatory Elements for MKLN1 Gene

Proteins for MKLN1 Gene

  • Protein details for MKLN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL63-MKLN1_HUMAN
    Recommended name:
    Muskelin
    Protein Accession:
    Q9UL63
    Secondary Accessions:
    • A4D1M8
    • A6NG43
    • Q9NSK4
    • Q9NUS8

    Protein attributes for MKLN1 Gene

    Size:
    735 amino acids
    Molecular mass:
    84768 Da
    Quaternary structure:
    • Interacts with the C-terminal tail of the prostaglandin EP3 receptor alpha isoform (By similarity). Interacts with RANBP9. Part of a complex consisting of RANBP9, MKLN1 and GID8.

    Alternative splice isoforms for MKLN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MKLN1 Gene

Proteomics data for MKLN1 Gene at MOPED

Post-translational modifications for MKLN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MKLN1 Gene

No data available for DME Specific Peptides for MKLN1 Gene

Domains for MKLN1 Gene

UniProtKB/Swiss-Prot:

MKLN1_HUMAN
Domain:
  • Contains 1 CTLH domain.:
    • Q9UL63
  • Contains 1 LisH domain.:
    • Q9UL63
Similarity:
  • Contains 6 Kelch repeats.:
    • Q9UL63
genes like me logo Genes that share domains with MKLN1: view

No data available for Gene Families for MKLN1 Gene

Function for MKLN1 Gene

Molecular function for MKLN1 Gene

GENATLAS Biochemistry: muskelin,intracellular,widely expressed,specific mediator of cell spreading and cytoskeletal response to the extracellular matrix macromolecule thrombospondin 1
UniProtKB/Swiss-Prot Function: Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1.

Gene Ontology (GO) - Molecular Function for MKLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MKLN1: view

Phenotypes for MKLN1 Gene

MGI mutant phenotypes for MKLN1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MKLN1:
genes like me logo Genes that share phenotypes with MKLN1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MKLN1 Gene

Localization for MKLN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MKLN1 Gene

Cytoplasm. Cell projection, ruffle. Cytoplasm, cell cortex. Note=Colocalizes with actin fibers in the cell cortex. {ECO:0000250 UniProtKB:O89050}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MKLN1 Gene COMPARTMENTS Subcellular localization image for MKLN1 gene
Compartment Confidence
cytosol 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MKLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm --
GO:0005829 cytosol ISS --
GO:0005938 cell cortex ISS --
genes like me logo Genes that share ontologies with MKLN1: view

Pathways for MKLN1 Gene

SuperPathways for MKLN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MKLN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion ISS --
GO:0007165 signal transduction NAS 10640805
GO:0008360 regulation of cell shape ISS --
GO:0031532 actin cytoskeleton reorganization ISS --
genes like me logo Genes that share ontologies with MKLN1: view

No data available for Pathways by source for MKLN1 Gene

Transcripts for MKLN1 Gene

Unigene Clusters for MKLN1 Gene

Muskelin 1, intracellular mediator containing kelch motifs:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MKLN1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: -
SP6:

ExUns: 18 ^ 19a · 19b
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for MKLN1 Gene

GeneLoc Exon Structure for
MKLN1
ECgene alternative splicing isoforms for
MKLN1

Expression for MKLN1 Gene

mRNA expression in normal human tissues for MKLN1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MKLN1 Gene

SOURCE GeneReport for Unigene cluster for MKLN1 Gene Hs.44693

genes like me logo Genes that share expressions with MKLN1: view

Orthologs for MKLN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MKLN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MKLN1 36
  • 99.64 (n)
  • 99.86 (a)
MKLN1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MKLN1 36
  • 94.38 (n)
  • 99.46 (a)
MKLN1 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MKLN1 36
  • 95.01 (n)
  • 99.45 (a)
MKLN1 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mkln1 36
  • 93.06 (n)
  • 99.18 (a)
Mkln1 16
Mkln1 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKLN1 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MKLN1 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkln1 36
  • 92.61 (n)
  • 99.32 (a)
chicken
(Gallus gallus)
Aves MKLN1 36
  • 85.75 (n)
  • 96.83 (a)
MKLN1 37
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MKLN1 37
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29733 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mkln1 36
  • 79.33 (n)
  • 92.4 (a)
Str.17283 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.870 36
zebrafish
(Danio rerio)
Actinopterygii Dr.11523 36
mkln1 36
  • 77.29 (n)
  • 89.79 (a)
mkln1 37
  • 89 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004884 36
  • 55.84 (n)
  • 51.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta muskelin 36
  • 54.15 (n)
  • 49.25 (a)
muskelin 37
  • 40 (a)
OneToOne
muskelin 38
  • 46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mde6 36
  • 46.28 (n)
  • 33.48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3659 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3662 37
  • 55 (a)
OneToOne
Species with no ortholog for MKLN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MKLN1 Gene

ENSEMBL:
Gene Tree for MKLN1 (if available)
TreeFam:
Gene Tree for MKLN1 (if available)

Paralogs for MKLN1 Gene

Selected SIMAP similar genes for MKLN1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with MKLN1: view

No data available for Paralogs for MKLN1 Gene

Variants for MKLN1 Gene

Sequence variations from dbSNP and Humsavar for MKLN1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs574 -- 131,474,528(+) GTTCA(C/T)TTATT intron-variant
rs15956 -- 131,496,159(+) AAAAC(C/T)GCTAA utr-variant-3-prime
rs161550 -- 131,372,393(-) CTTTT(G/T)TGTGT intron-variant
rs161876 -- 131,186,185(+) gactc(C/T)gtctc intron-variant
rs161877 -- 131,191,164(+) TTGCT(C/T)AGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MKLN1 Gene

Variant ID Type Subtype PubMed ID
nsv831133 CNV Loss 17160897
dgv2137e1 CNV Complex 17122850
esv2661967 CNV Deletion 23128226
esv2539523 CNV Insertion 19546169
esv259682 OTHER Complex 20981092
nsv824306 CNV Loss 20364138
esv2675097 CNV Deletion 23128226
nsv523877 CNV Loss 19592680
nsv5951 CNV Loss 18451855
esv2572412 CNV Deletion 19546169
esv2035982 CNV Deletion 18987734
esv29565 CNV Loss 19812545
esv2656854 CNV Deletion 23128226
nsv831134 CNV Gain 17160897
esv2673252 CNV Deletion 23128226

Relevant External Links for MKLN1 Gene

HapMap Linkage Disequilibrium report
MKLN1

Disorders for MKLN1 Gene

(2) University of Copenhagen DISEASES for MKLN1 Gene

Relevant External Links for MKLN1

Genetic Association Database (GAD)
MKLN1
Human Genome Epidemiology (HuGE) Navigator
MKLN1
genes like me logo Genes that share disorders with MKLN1: view

No data available for UniProtKB/Swiss-Prot for MKLN1 Gene

Publications for MKLN1 Gene

  1. cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH. (PMID: 10640805) Adams J.C. … Zhang L. (Cytogenet. Cell Genet. 1999) 2 3 4 23
  2. A novel nuclear protein, Twa1, and Muskelin comprise a complex with RanBPM. (PMID: 12559565) Umeda M. … Nishimoto T. (Gene 2003) 3 4 23
  3. Molecular analysis of muskelin identifies a conserved discoidin-like domain that contributes to protein self-association. (PMID: 15084145) Prag S. … Adams J.C. (Biochem. J. 2004) 3 23
  4. RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex. (PMID: 17467196) Kobayashi N. … Ishigatsubo Y. (Gene 2007) 3 23
  5. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PMID: 20038947) Shyn S.I. … Hamilton S.P. (Mol. Psychiatry 2011) 3 49

Products for MKLN1 Gene

Sources for MKLN1 Gene

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