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    Mfsd12 major facilitator superfamily domain containing 12 [ Mus musculus (house mouse) ]

    Gene ID: 73822, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mfsd12provided by MGI
    Official Full Name
    major facilitator superfamily domain containing 12provided by MGI
    Primary source
    MGI:MGI:3604804
    See related
    Ensembl:ENSMUSG00000034854 AllianceGenome:MGI:3604804
    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
    gr; Wdt1; C19orf28; F630110N24Rik
    Summary
    Predicted to enable cysteine transmembrane transporter activity. Involved in negative regulation of melanin biosynthetic process and pigment metabolic process involved in pigmentation. Acts upstream of or within hair follicle development and pigmentation. Predicted to be located in late endosome; lysosome; and melanosome. Predicted to be active in plasma membrane. Is expressed in thymus primordium. Orthologous to human MFSD12 (major facilitator superfamily domain containing 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in stomach adult (RPKM 36.7), testis adult (RPKM 36.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mfsd12 in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (81193325..81202059)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (81357491..81366225)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene GIPC PDZ domain containing family, member 3 Neighboring gene STARR-positive B cell enhancer ABC_E1809 Neighboring gene high mobility group 20B Neighboring gene STARR-seq mESC enhancer starr_27329 Neighboring gene STARR-positive B cell enhancer ABC_E11448 Neighboring gene tektin bundle interacting protein 1 Neighboring gene fizzy and cell division cycle 20 related 1 Neighboring gene STARR-seq mESC enhancer starr_27331 Neighboring gene STARR-seq mESC enhancer starr_27332 Neighboring gene predicted gene, 48551 Neighboring gene microRNA 6913 Neighboring gene deoxyhypusine hydroxylase/monooxygenase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color. Watkins-Chow DE, et al. Pigment Cell Melanoma Res, 2024 Mar. PMID 37874775
    2. MFSD12 mediates the import of cysteine into melanosomes and lysosomes. Adelmann CH, et al. Nature, 2020 Dec. PMID 33208952, Free PMC Article
    3. Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. Noebels JL, et al. J Neurogenet, 1989 Sep. PMID 2778559
    4. Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. Lane PW, et al. J Hered, 1974 Nov-Dec. PMID 4448900
    5. Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. Sikora KM, et al. PLoS One, 2012. PMID 23226316, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
      Title: The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.
    Submit: New GeneRIF Correction

    Phenotypes

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    Associated conditions

    Description Tests
    grizzled
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Gene trapped (1) 
    • Spontaneous (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC148235

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cysteine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cysteine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cysteine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cysteine transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cysteine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within hair follicle development IMP
    Inferred from Mutant Phenotype
    more info
    		  
    involved_in melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pigment metabolic process involved in pigmentation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pigment metabolic process involved in pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pigment metabolic process involved in pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    		  
    involved_in regulation of melanin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of melanin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of melanin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in melanosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in melanosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    major facilitator superfamily domain-containing protein 12
    Names
    protein grizzled

    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_028657.4 → NP_082933.2  major facilitator superfamily domain-containing protein 12

      See identical proteins and their annotated locations for NP_082933.2

      Status: VALIDATED

      Source sequence(s)
      AC155937, AI852143, AK149678, BC119790
      Consensus CDS
      CCDS35996.1
      UniProtKB/Swiss-Prot
      Q3U376, Q3U481
      Related
      ENSMUSP00000036116.9, ENSMUST00000044844.9
      Conserved Domains (2) summary
      cd06174
      Location:267 → 422
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam13347
      Location:21 → 419
      MFS_2; MFS/sugar transport protein

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      81193325..81202059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514219.4 → XP_006514282.1  major facilitator superfamily domain-containing protein 12 isoform X1

      Conserved Domains (1) summary
      cd17491
      Location:21 → 426
      MFS_MFSD12; Major facilitator superfamily domain-containing protein 12
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U481.1 GenPept UniProtKB/Swiss-Prot:Q3U481

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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