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Mkln1 muskelin 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 83536, updated on 25-Apr-2024

Summary

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Symbol
Mkln1provided by RGD
Full Name
muskelin 1provided by RGD
Primary source
RGD:620076
See related
Ensembl:ENSRNOG00000054514 AllianceGenome:RGD:620076
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Enables protein homodimerization activity. Involved in regulation of receptor internalization. Located in cytosol. Orthologous to human MKLN1 (muskelin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Muscle (RPKM 348.8), Kidney (RPKM 348.5) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
4q22
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (60939239..61095214)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (59815912..60124047)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (58693384..58817924)

Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120102487 Neighboring gene uncharacterized LOC120102488 Neighboring gene uncharacterized LOC120102486 Neighboring gene peptidylprolyl isomerase D, pseudogene 6 Neighboring gene developmental pluripotency-associated 4, pseudogene 8 Neighboring gene uncharacterized LOC134486572 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Receptor isoform-specific interaction of prostaglandin EP3 receptor with muskelin. Hasegawa H, et al. Biochem Biophys Res Commun, 2000 Sep 16. PMID 11006128
  2. 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
  3. Muskelin, a novel intracellular mediator of cell adhesive and cytoskeletal responses to thrombospondin-1. Adams JC, et al. EMBO J, 1998 Sep 1. PMID 9724633, Free PMC Article
  4. The LisH motif of muskelin is crucial for oligomerization and governs intracellular localization. Delto CF, et al. Structure, 2015 Feb 3. PMID 25579817
  5. Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor. Debenedittis P, et al. Biochem Biophys Res Commun, 2011 Jun 3. PMID 21586270, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Markers

Readthrough Mkln1

Included gene: Vamp5l

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cell-matrix adhesion ISO
Inferred from Sequence Orthology
more info
  
involved_in cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neurotransmitter receptor transport postsynaptic membrane to endosome ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell shape ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of receptor internalization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle-mediated transport in synapse ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in GABA-ergic synapse ISO
Inferred from Sequence Orthology
more info
  
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
  
located_in cell cortex ISO
Inferred from Sequence Orthology
more info
  
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
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic endosome membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in postsynaptic specialization membrane of symmetric synapse ISO
Inferred from Sequence Orthology
more info
  
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle ISO
Inferred from Sequence Orthology
more info
  
located_in ruffle ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
  
part_of ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
  

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_001428641.1 → NP_001415570.1  muskelin isoform 2

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000004

  2. NM_001428642.1 → NP_001415571.1  muskelin isoform 3

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000004
    UniProtKB/TrEMBL
    A0A8I5Y5I8

  3. NM_001428643.1 → NP_001415572.1  muskelin isoform 4

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000004

  4. NM_001429298.1 → NP_001416227.1  muskelin isoform 5

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000004

  5. NM_031359.2 → NP_112649.1  muskelin isoform 1

    See identical proteins and their annotated locations for NP_112649.1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000004
    UniProtKB/Swiss-Prot
    Q99PV3
    UniProtKB/TrEMBL
    A0A0G2K9Q2, A6IEJ3
    Related
    ENSRNOP00000075084.2, ENSRNOT00000081707.2
    Conserved Domains (5) summary
    smart00668
    Location:206 → 258
    CTLH; C-terminal to LisH motif
    PLN02153
    Location:307 → 475
    PLN02153; epithiospecifier protein
    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

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086022.1 Reference GRCr8

    Range
    60939239..61095214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063286758.1 → XP_063142828.1  muskelin isoform X4

  2. XM_063286756.1 → XP_063142826.1  muskelin isoform X3

  3. XM_063286757.1 → XP_063142827.1  muskelin isoform X3

  4. XM_063286761.1 → XP_063142831.1  muskelin isoform X6

  5. XM_063286759.1 → XP_063142829.1  muskelin isoform X4

  6. XM_039108443.2 → XP_038964371.1  muskelin isoform X7

    UniProtKB/TrEMBL
    A0A0G2K9Q2
    Conserved Domains (5) summary
    smart00668
    Location:198 → 250
    CTLH; C-terminal to LisH motif
    PLN02153
    Location:299 → 467
    PLN02153; epithiospecifier protein
    sd00038
    Location:263 → 315
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:22 → 199
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:274 → 326
    Kelch_3; Galactose oxidase, central domain

  7. XM_063286754.1 → XP_063142824.1  muskelin isoform X1

  8. XM_063286755.1 → XP_063142825.1  muskelin isoform X2

  9. XM_063286760.1 → XP_063142830.1  muskelin isoform X5

  10. XM_039108446.2 → XP_038964374.1  muskelin isoform X8

    Related
    ENSRNOP00000077228.1
    Conserved Domains (5) summary
    smart00668
    Location:180 → 232
    CTLH; C-terminal to LisH motif
    PLN02153
    Location:281 → 449
    PLN02153; epithiospecifier protein
    sd00038
    Location:245 → 297
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:8 → 181
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:256 → 308
    Kelch_3; Galactose oxidase, central domain

  11. XM_039108448.2 → XP_038964376.1  muskelin isoform X9

    Conserved Domains (3) summary
    PLN02153
    Location:100 → 268
    PLN02153; epithiospecifier protein
    sd00038
    Location:64 → 116
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:75 → 127
    Kelch_3; Galactose oxidase, central domain

RNA

  1. XR_010065709.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99PV3.1 GenPept UniProtKB/Swiss-Prot:Q99PV3

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