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Mkln1 muskelin 1, intracellular mediator containing kelch motifs [ Mus musculus (house mouse) ]

Gene ID: 27418, updated on 9-Dec-2024

Summary

Official Symbol
Mkln1provided by MGI
Official Full Name
muskelin 1, intracellular mediator containing kelch motifsprovided by MGI
Primary source
MGI:MGI:1351638
See related
Ensembl:ENSMUSG00000025609 AllianceGenome:MGI:1351638
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
A130067F06Rik
Summary
Enables identical protein binding activity. Involved in several processes, including cell-matrix adhesion; neurotransmitter receptor transport postsynaptic membrane to endosome; and regulation of cell shape. Located in several cellular components, including cell cortex; nucleoplasm; and ruffle. Is active in GABA-ergic synapse; postsynaptic endosome membrane; and postsynaptic specialization membrane of symmetric synapse. Is expressed in several structures, including alimentary system; heart; limb; nervous system; and sensory organ epithelium. Orthologous to human MKLN1 (muskelin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 7.6), bladder adult (RPKM 7.5) and 28 other tissues See more
Orthologs
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Genomic context

See Mkln1 in Genome Data Viewer
Location:
6 A3.3; 6 12.57 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (31333833..31493744)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (31398828..31516809)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene long non-protein coding RNA, Trp53 induced transcript Neighboring gene STARR-positive B cell enhancer mm9_chr6:31119400-31119700 Neighboring gene STARR-positive B cell enhancer ABC_E8097 Neighboring gene proteasome (prosome, macropain) subunit, alpha type 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15481 Neighboring gene RIKEN cDNA 2210408F21 gene Neighboring gene STARR-seq mESC enhancer starr_15482 Neighboring gene STARR-seq mESC enhancer starr_15483 Neighboring gene STARR-positive B cell enhancer ABC_E4819 Neighboring gene predicted gene, 38782 Neighboring gene STARR-seq mESC enhancer starr_15487 Neighboring gene muskelin 1, intracellular mediator containing kelch motifs, opposite strand Neighboring gene STARR-seq mESC enhancer starr_15489 Neighboring gene STARR-seq mESC enhancer starr_15490 Neighboring gene podocalyxin-like Neighboring gene predicted gene 6117

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in GABA-ergic synapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic specialization membrane of symmetric synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic specialization membrane of symmetric synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in ruffle IDA
Inferred from Direct Assay
more info
PubMed 
part_of ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
 
part_of ubiquitin ligase complex ISO
Inferred from Sequence Orthology
more info
 

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_001429318.1NP_001416247.1  muskelin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC132305, AC153837, AC158658
  2. NM_001429319.1NP_001416248.1  muskelin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC132305, AC153837, AC158658
  3. NM_001429320.1NP_001416249.1  muskelin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC132305, AC153837, AC158658
  4. NM_001429321.1NP_001416250.1  muskelin isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC132305, AC153837, AC158658
  5. NM_001429322.1NP_001416251.1  muskelin isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC024913, AC132305, AC153837, AC158658
  6. NM_001429323.1NP_001416252.1  muskelin isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC024913, AC132305, AC153837, AC158658
  7. NM_013791.3NP_038819.1  muskelin isoform 1

    See identical proteins and their annotated locations for NP_038819.1

    Status: VALIDATED

    Source sequence(s)
    AC132305, AC153837, AC158658
    Consensus CDS
    CCDS19982.1
    UniProtKB/Swiss-Prot
    O89050
    Related
    ENSMUSP00000026699.9, ENSMUST00000026699.15
    Conserved Domains (5) summary
    smart00668
    Location:206258
    CTLH; C-terminal to LisH motif
    PLN02153
    Location:307475
    PLN02153; epithiospecifier protein
    sd00038
    Location:271323
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:12207
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:282334
    Kelch_3; Galactose oxidase, central domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    31333833..31493744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036166200.1XP_036022093.1  muskelin isoform X1

    Conserved Domains (5) summary
    smart00668
    Location:178230
    CTLH; C-terminal to LisH motif
    PLN02153
    Location:279447
    PLN02153; epithiospecifier protein
    sd00038
    Location:243295
    Kelch; KELCH repeat [structural motif]
    pfam06588
    Location:6179
    Muskelin_N; Muskelin N-terminus
    pfam13415
    Location:254306
    Kelch_3; Galactose oxidase, central domain
  2. XM_017321605.3XP_017177094.1  muskelin isoform X2

    Conserved Domains (3) summary
    PLN02153
    Location:100268
    PLN02153; epithiospecifier protein
    sd00038
    Location:64116
    Kelch; KELCH repeat [structural motif]
    pfam13415
    Location:75127
    Kelch_3; Galactose oxidase, central domain
  3. XM_030255437.1XP_030111297.1  muskelin isoform X3

    Conserved Domains (2) summary
    PLN02153
    Location:9145
    PLN02153; epithiospecifier protein
    sd00038
    Location:57123
    Kelch; KELCH repeat [structural motif]
  4. XM_036166201.1XP_036022094.1  muskelin isoform X3

    Conserved Domains (2) summary
    PLN02153
    Location:9145
    PLN02153; epithiospecifier protein
    sd00038
    Location:57123
    Kelch; KELCH repeat [structural motif]