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MKLN1 muskelin 1 [ Homo sapiens (human) ]

Gene ID: 4289, updated on 29-Mar-2023

Summary

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Official Symbol
MKLN1provided by HGNC
Official Full Name
muskelin 1provided by HGNC
Primary source
HGNC:HGNC:7109
See related
Ensembl:ENSG00000128585 MIM:605623; AllianceGenome:HGNC:7109
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TWA2
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]
Expression
Ubiquitous expression in prostate (RPKM 8.7), brain (RPKM 8.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See MKLN1 in Genome Data Viewer
Location:
7q32.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (131110094..131496632)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (132427607..132814224)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130794853..131181391)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA, p53 induced transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:130775512-130776367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:130792685-130793536 Neighboring gene MKLN1 intron CAGE-defined mid-level expression enhancer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130848608-130849807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130872973-130874172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130875573-130876331 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130880490 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130888388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130929013-130929606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:130930791-130931382 Neighboring gene ribosomal protein L27 pseudogene 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131012400-131012976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131012977-131013553 Neighboring gene uncharacterized LOC124901747 Neighboring gene MKLN1 antisense RNA Neighboring gene NANOG hESC enhancer GRCh37_chr7:131123760-131124261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131190418-131191332 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:131198033-131198892 Neighboring gene podocalyxin like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model. Nassan M, et al. J Affect Disord, 2017 Jan 15. PMID 27769005
  2. CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis. Xu L, et al. Curr Eye Res, 2021 Nov. PMID 33988065
  3. Molecular analysis of muskelin identifies a conserved discoidin-like domain that contributes to protein self-association. Prag S, et al. Biochem J, 2004 Jul 15. PMID 15084145, Free PMC Article
  4. Receptor isoform-specific interaction of prostaglandin EP3 receptor with muskelin. Hasegawa H, et al. Biochem Biophys Res Commun, 2000 Sep 16. PMID 11006128
  5. 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. Adams JC, et al. Cytogenet Cell Genet, 1999. PMID 10640805

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis.
    Title: CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis.
  2. GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
    Title: GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
  3. A meta-analysis genome wide association study suggest MKLN1 is associated with early-onset bipolar disorder.
    Title: A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. These novel findings identify a role for muskelin-RanBP9 complex in pathways that integrate cell morphology regulation and nucleocytoplasmic communication.
    Title: Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation.
  6. RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells
    Title: RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
EBI GWAS Catalog
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
EBI GWAS Catalog
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11162

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
muskelin
Names
muskelin 1, intracellular mediator containing kelch motifs

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145354.2 → NP_001138826.1  muskelin isoform 1

    See identical proteins and their annotated locations for NP_001138826.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC008264, AC009783, AC013434, AI928463, AK294384, BC002834
    UniProtKB/Swiss-Prot
    Q9UL63
    UniProtKB/TrEMBL
    B4DG30
    Conserved Domains (4) summary
    sd00038
    Location:248 → 300
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:433 → 470
    Kelch_1; Kelch motif
    pfam06588
    Location:11 → 184
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:259 → 311
    Kelch_3; Galactose oxidase, central domain

  2. NM_001321316.2 → NP_001308245.1  muskelin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC008264, AC009783, AK002024, DA172589
    UniProtKB/Swiss-Prot
    Q9UL63
    Conserved Domains (3) summary
    sd00038
    Location:64 → 116
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:249 → 286
    Kelch_1; Kelch motif
    pfam13415
    Location:75 → 127
    Kelch_3; Galactose oxidase, central domain

  3. NM_013255.5 → NP_037387.2  muskelin isoform 2

    See identical proteins and their annotated locations for NP_037387.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC008264, AC009783, AI928463, AK294384, BC002834, BC067825, DA172589
    Consensus CDS
    CCDS34754.1
    UniProtKB/Swiss-Prot
    Q9NUS8, Q9UL63
    UniProtKB/TrEMBL
    B4DG30
    Related
    ENSP00000323527.6, ENST00000352689.11
    Conserved Domains (4) summary
    sd00038
    Location:271 → 323
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:12 → 207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282 → 334
    Kelch_3; Galactose oxidase, central domain
    cl26061
    Location:307 → 475
    PLN02193; nitrile-specifier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    131110094..131496632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420401.1 → XP_047276357.1  muskelin isoform X2

  2. XM_006715993.4 → XP_006716056.1  muskelin isoform X1

    Conserved Domains (4) summary
    sd00038
    Location:271 → 323
    Kelch; KELCH repeat [structural motif]
    pfam01344
    Location:456 → 493
    Kelch_1; Kelch motif
    pfam06588
    Location:12 → 207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282 → 334
    Kelch_3; Galactose oxidase, central domain

  3. XM_011516224.4 → XP_011514526.1  muskelin isoform X3

    Conserved Domains (4) summary
    smart00668
    Location:206 → 258
    CTLH; C-terminal to LisH motif
    sd00038
    Location:271 → 323
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:12 → 207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282 → 334
    Kelch_3; Galactose oxidase, central domain

  4. XM_047420402.1 → XP_047276358.1  muskelin isoform X4

    UniProtKB/TrEMBL
    C9J7E8
    Related
    ENSP00000398094.2, ENST00000421797.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    132427607..132814224
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358258.1 → XP_054214233.1  muskelin isoform X2

  2. XM_054358257.1 → XP_054214232.1  muskelin isoform X1

  3. XM_054358259.1 → XP_054214234.1  muskelin isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UL63.2 GenPept UniProtKB/Swiss-Prot:Q9UL63

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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