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Aliases for MKLN1 Gene

Aliases for MKLN1 Gene

  • Muskelin 1 2 3 5
  • Muskelin 1, Intracellular Mediator Containing Kelch Motifs 2 3
  • Muskelin 3
  • TWA2 3

External Ids for MKLN1 Gene

Previous GeneCards Identifiers for MKLN1 Gene

  • GC07P129355
  • GC07P130415
  • GC07P130428
  • GC07P130469
  • GC07P130663
  • GC07P130794
  • GC07P125110

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) 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKLN1 Gene

Genomics for MKLN1 Gene

Regulatory Elements for MKLN1 Gene

Enhancers for MKLN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G131185 2 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +78.7 78692 5.8 HDGF PKNOX1 FOXA2 ARNT SIN3A FOS DEK PAF1 SP3 JUNB MKLN1 LINC-PINT ENSG00000270953 GC07M131194 GC07M131173
GH07G131234 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +126.7 126650 4.9 FOXA2 ATF1 ARID4B SIN3A BRCA1 YY1 FOS MIER2 MEF2D NFIL3 MKLN1 LINC-PINT RPL27P11 GC07M131204
GH07G131075 1.5 Ensembl ENCODE dbSUPER 11.1 -33.5 -33501 2.4 PKNOX1 ATF1 FOXA2 MLX ARID4B FEZF1 DMAP1 YY1 SLC30A9 GATA2 LINC-PINT MKLN1 RNU6-1010P ENSG00000273489 GC07M131055
GH07G131230 1.5 Ensembl ENCODE dbSUPER 11 +121.5 121495 1.9 HDGF PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 MKLN1 LINC-PINT RPL27P11 GC07M131204
GH07G131218 1.3 Ensembl ENCODE 11.1 +109.4 109351 1.7 FOXA2 PKNOX1 SIN3A YY1 SLC30A9 FOS ZNF548 SP3 SP5 TBX21 LINC-PINT MKLN1 MKLN1-AS GC07M131204 RPL27P11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MKLN1 on UCSC Golden Path with GeneCards custom track

Promoters for MKLN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000328382 -196 1401 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 FOS KLF13 SP3
ENSR00000218088 1204 201 PKNOX1 ATF1 WRNIP1 BRCA1 YY1 FOS DEK TBX21 ZNF592 MEF2D

Genomic Location for MKLN1 Gene

Chromosome:
7
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

Genes around MKLN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKLN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MKLN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MKLN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MKLN1 Gene

Domains & Families for MKLN1 Gene

Suggested Antigen Peptide Sequences for MKLN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with MKLN1: view

Animal Model Products

CRISPR Products

miRNA for MKLN1 Gene

miRTarBase miRNAs that target MKLN1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKLN1 gene
Compartment Confidence
cytosol 5
nucleus 3
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 IEA --
GO:0005829 cytosol ISS,IEA --
GO:0005938 cell cortex ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with MKLN1: view

Pathways & Interactions 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,IEA --
GO:0007165 signal transduction NAS 10640805
GO:0008360 regulation of cell shape IEA,ISS --
GO:0031532 actin cytoskeleton reorganization ISS,IEA --
genes like me logo Genes that share ontologies with MKLN1: view

No data available for Pathways by source and SIGNOR curated interactions for MKLN1 Gene

Drugs & Compounds for MKLN1 Gene

No Compound Related Data Available

Transcripts for MKLN1 Gene

Unigene Clusters for MKLN1 Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MKLN1 Gene

Protein differential expression in normal tissues from HIPED for MKLN1 Gene

This gene is overexpressed in Testis (22.1), Pancreas (10.4), Retina (9.8), Ovary (8.0), and CD8 Tcells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MKLN1 Gene



Protein tissue co-expression partners for MKLN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MKLN1 Gene:

MKLN1

SOURCE GeneReport for Unigene cluster for MKLN1 Gene:

Hs.44693

Evidence on tissue expression from TISSUES for MKLN1 Gene

  • Nervous system(4.8)
  • Kidney(4.5)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with MKLN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MKLN1 Gene

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 34 35
  • 99.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MKLN1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MKLN1 34 35
  • 95.01 (n)
cow
(Bos Taurus)
Mammalia MKLN1 34 35
  • 94.38 (n)
mouse
(Mus musculus)
Mammalia Mkln1 34 16 35
  • 93.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MKLN1 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mkln1 34
  • 92.61 (n)
chicken
(Gallus gallus)
Aves MKLN1 34 35
  • 85.75 (n)
lizard
(Anolis carolinensis)
Reptilia MKLN1 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkln1 34
  • 79.33 (n)
Str.17283 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29733 34
zebrafish
(Danio rerio)
Actinopterygii mkln1 34 35
  • 77.29 (n)
Dr.11523 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.870 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004884 34
  • 55.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta muskelin 36 34 35
  • 54.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3662 35
  • 55 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mde6 34
  • 46.28 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3659 34
Species where no ortholog for MKLN1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs1000000274 -- 131,183,080(+) GAAAT(C/T)CTGCA intron-variant
rs1000003618 -- 131,311,574(+) GAGGT(G/T)CCTTT intron-variant
rs1000004105 -- 131,221,693(+) TTTTT(G/T)TATTT intron-variant
rs1000005063 -- 131,423,875(+) TTTTA(C/G/T)TAAGG intron-variant
rs1000032439 -- 131,273,522(+) GGCTC(A/G)CAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv6616n100 CNV loss 25217958
dgv6617n100 CNV gain 25217958
dgv6618n100 CNV loss 25217958
dgv6619n100 CNV loss 25217958
dgv6620n100 CNV loss 25217958
dgv6621n100 CNV loss 25217958
esv2035982 CNV deletion 18987734
esv2539523 CNV insertion 19546169
esv2572412 CNV deletion 19546169
esv2656854 CNV deletion 23128226
esv2661967 CNV deletion 23128226
esv2673252 CNV deletion 23128226
esv2675097 CNV deletion 23128226
esv2759563 CNV loss 17122850
esv29565 CNV loss 19812545
esv3302708 CNV tandem duplication 20981092
esv3359384 CNV insertion 20981092
esv3615033 CNV loss 21293372
esv3615034 CNV loss 21293372
esv3615035 CNV loss 21293372
esv3615036 CNV loss 21293372
esv3615037 CNV loss 21293372
esv3615038 CNV loss 21293372
esv3615039 CNV loss 21293372
esv3615040 CNV loss 21293372
nsv1078266 CNV insertion 25765185
nsv1115006 CNV deletion 24896259
nsv1125261 CNV insertion 24896259
nsv1143193 CNV tandem duplication 24896259
nsv523877 CNV loss 19592680
nsv5951 CNV deletion 18451855
nsv824306 CNV loss 20364138
nsv831133 CNV loss 17160897
nsv831134 CNV gain 17160897
nsv949949 CNV duplication 24416366
nsv966889 CNV duplication 23825009

Variation tolerance for MKLN1 Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MKLN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKLN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKLN1 Gene

Disorders for MKLN1 Gene

Relevant External Links for MKLN1

Genetic Association Database (GAD)
MKLN1
Human Genome Epidemiology (HuGE) Navigator
MKLN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MKLN1

No disorders were found for MKLN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. A novel nuclear protein, Twa1, and Muskelin comprise a complex with RanBPM. (PMID: 12559565) Umeda M. … Nishimoto T. (Gene 2003) 3 4 22 64
  3. 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 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation. (PMID: 18710924) Valiyaveettil M. … Adams J.C. (J. Cell Biol. 2008) 3 22 64

Products for MKLN1 Gene

Sources for MKLN1 Gene

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