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    MFSD12 major facilitator superfamily domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 126321, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MFSD12provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:28299
    See related
    Ensembl:ENSG00000161091 MIM:617745; AllianceGenome:HGNC:28299
    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
    PP3501; SLC59B1; C19orf28
    Summary
    Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 23.3), skin (RPKM 11.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD12 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3538275..3557586, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3516446..3535742, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3544197..3557584, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13735 Neighboring gene deoxyhypusine hydroxylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3516112-3516938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3516939-3517763 Neighboring gene fizzy and cell division cycle 20 related 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3518044-3518846 Neighboring gene uncharacterized LOC124904617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3520450-3521250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3539157-3540009 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3540539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3542983 Neighboring gene tektin bundle interacting protein 1 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3550926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9850 Neighboring gene Sharpr-MPRA regulatory region 8051 Neighboring gene uncharacterized LOC124904618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3571588-3572156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3572157-3572724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9853 Neighboring gene high mobility group 20B Neighboring gene GIPC PDZ domain containing family member 3

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Major Facilitator Superfamily Domain Containing 12 Is Overexpressed in Lung Cancer and Exhibits an Oncogenic Role in Lung Adenocarcinoma Cells.
      Title: Major Facilitator Superfamily Domain Containing 12 Is Overexpressed in Lung Cancer and Exhibits an Oncogenic Role in Lung Adenocarcinoma Cells.
    2. MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
      Title: MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
    3. Elevated MFSD12 expression promotes melanoma cell proliferation, and MFSD12 is a valuable prognostic biomarker and promising therapeutic target in melanoma.
      Title: Bioinformatics-based analysis reveals elevated MFSD12 as a key promoter of cell proliferation and a potential therapeutic target in melanoma.
    4. pp3501 inhibited the proliferation of SH-SY5Y cells, arrested the cell cycle at G1 phase, and sensitized the SH-SY5Y cells to sodium butyrate treatment.
      Title: Novel protein pp3501 mediates the inhibitory effect of sodium butyrate on SH-SY5Y cell proliferation.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20700

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of melanin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 
    Component Evidence Code Pubs
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in melanosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

    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_001287529.2 → NP_001274458.1  major facilitator superfamily domain-containing protein 12 isoform d

      See identical proteins and their annotated locations for NP_001274458.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 3' end of the first exon compared to variant 3. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform c.
      Source sequence(s)
      AC005786, BC036706, BC068439, HY061678
      Consensus CDS
      CCDS74256.1
      UniProtKB/Swiss-Prot
      Q6NUT3
      Related
      ENSP00000467207.1, ENST00000588918.5
      Conserved Domains (2) summary
      cd06174
      Location:262 → 402
      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:22 → 414
      MFS_2; MFS/sugar transport protein

    2. NM_174983.5 → NP_778148.2  major facilitator superfamily domain-containing protein 12 isoform c

      See identical proteins and their annotated locations for NP_778148.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (c).
      Source sequence(s)
      AC005786, BC068439, HY061678
      Consensus CDS
      CCDS42465.1
      UniProtKB/Swiss-Prot
      A8MXP7, D6W615, E9PAJ8, Q6NUT3, Q8N459
      Related
      ENSP00000347583.1, ENST00000355415.7
      Conserved Domains (2) summary
      cd06174
      Location:271 → 411
      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 ...
      cl21472
      Location:15 → 183
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3538275..3557586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438171.1 → XP_047294127.1  major facilitator superfamily domain-containing protein 12 isoform X5

    2. XM_011527684.3 → XP_011525986.1  major facilitator superfamily domain-containing protein 12 isoform X3

      UniProtKB/Swiss-Prot
      Q6NUT3
      Conserved Domains (2) summary
      cd06174
      Location:271 → 411
      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 ...
      cl21472
      Location:15 → 183
      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 ...

    3. XM_005259490.5 → XP_005259547.1  major facilitator superfamily domain-containing protein 12 isoform X2

      Conserved Domains (2) summary
      pfam13347
      Location:22 → 351
      MFS_2; MFS/sugar transport protein
      cl21472
      Location:15 → 183
      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 ...

    4. XM_047438170.1 → XP_047294126.1  major facilitator superfamily domain-containing protein 12 isoform X1

    5. XM_017026288.2 → XP_016881777.1  major facilitator superfamily domain-containing protein 12 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3516446..3535742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319803.1 → XP_054175778.1  major facilitator superfamily domain-containing protein 12 isoform X5

    2. XM_054319801.1 → XP_054175776.1  major facilitator superfamily domain-containing protein 12 isoform X3

    3. XM_054319800.1 → XP_054175775.1  major facilitator superfamily domain-containing protein 12 isoform X2

    4. XM_054319799.1 → XP_054175774.1  major facilitator superfamily domain-containing protein 12 isoform X1

    5. XM_054319802.1 → XP_054175777.1  major facilitator superfamily domain-containing protein 12 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001042680.1: Suppressed sequence

      Description
      NM_001042680.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_021731.2: Suppressed sequence

      Description
      NM_021731.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUT3.2 GenPept UniProtKB/Swiss-Prot:Q6NUT3

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