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

Gene ID: 126321, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 23.3), skin (RPKM 11.8) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3538275..3557586, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3516446..3535742, complement)
105.20220307 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
  • 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. Bioinformatics-based analysis reveals elevated MFSD12 as a key promoter of cell proliferation and a potential therapeutic target in melanoma. Wei CY, et al. Oncogene, 2019 Mar. PMID 30385854, Free PMC Article
  2. Novel protein pp3501 mediates the inhibitory effect of sodium butyrate on SH-SY5Y cell proliferation. Wang Y, et al. J Cell Biochem, 2012 Aug. PMID 22441875
  3. MFSD12 mediates the import of cysteine into melanosomes and lysosomes. Adelmann CH, et al. Nature, 2020 Dec. PMID 33208952, Free PMC Article
  4. Loci associated with skin pigmentation identified in African populations. Crawford NG, et al. Science, 2017 Nov 17. PMID 29025994, Free PMC Article
  5. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. Xie L, et al. PLoS Genet, 2012. PMID 23284306, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
    Title: MFSD12 mediates the import of cysteine into melanosomes and lysosomes.
  2. 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.
  3. 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)

Genotypes

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
  
enables transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in carbohydrate transport IEA
Inferred from Electronic Annotation
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 organic substance transport IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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