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    MFSD5 major facilitator superfamily domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 84975, updated on 11-Apr-2024

    Summary

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    Official Symbol
    MFSD5provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:28156
    See related
    Ensembl:ENSG00000182544 MIM:620345; AllianceGenome:HGNC:28156
    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
    hsMOT2; SLC61A1
    Summary
    Predicted to enable molybdate ion transmembrane transporter activity. Predicted to be involved in molybdate ion transport. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in skin (RPKM 12.9), esophagus (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53251197..53254406)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53216787..53219996)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53645370..53648190)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53609063-53609836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53610051-53610664 Neighboring gene Sharpr-MPRA regulatory region 13987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4497 Neighboring gene retinoic acid receptor gamma Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53635595-53636507 Neighboring gene uncharacterized LOC122455340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53645725-53646396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670028-53670528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670529-53671029 Neighboring gene extra spindle pole bodies like 1, separase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53684247-53684748 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:53689034-53690233 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:53692451-53693650 Neighboring gene prefoldin subunit 5

    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. Algae and humans share a molybdate transporter. Tejada-Jiménez M, et al. Proc Natl Acad Sci U S A, 2011 Apr 19. PMID 21464289, Free PMC Article
    2. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. Huang X, et al. Mol Endocrinol, 2013 Sep. PMID 23864651, Free PMC Article
    3. Mig-6 controls EGFR trafficking and suppresses gliomagenesis. Ying H, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351267, Free PMC Article
    4. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    5. A protein interaction framework for human mRNA degradation. Lehner B, et al. Genome Res, 2004 Jul. PMID 15231747, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Major Facilitator Superfamily Domain Containing 5 Inhibition Reduces Lipoprotein(a) Uptake and Calcification in Valvular Heart Disease.
      Title: Major Facilitator Superfamily Domain Containing 5 Inhibition Reduces Lipoprotein(a) Uptake and Calcification in Valvular Heart Disease.
    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

    • MGC11308

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molybdate ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in molybdate ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    molybdate-anion transporter
    Names
    major facilitator superfamily domain-containing protein 5
    molybdate transporter 2 homolog

    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_001170790.2 → NP_001164261.1  molybdate-anion transporter isoform 1

      See identical proteins and their annotated locations for NP_001164261.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK097576, BC007703, BC067795, DA565785
      Consensus CDS
      CCDS53796.1
      UniProtKB/Swiss-Prot
      Q6N075
      Related
      ENSP00000442688.1, ENST00000534842.1
      Conserved Domains (2) summary
      pfam07690
      Location:155 → 488
      MFS_1; Major Facilitator Superfamily
      cl21472
      Location:113 → 435
      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 ...

    2. NM_032889.5 → NP_116278.3  molybdate-anion transporter isoform 2

      See identical proteins and their annotated locations for NP_116278.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK074684, BC067795, DA428788, DA695979
      Consensus CDS
      CCDS8851.1
      UniProtKB/Swiss-Prot
      G3V1N7, Q6N075, Q6NW04, Q8N7W8, Q8NCK0, Q96IA5
      Related
      ENSP00000332624.5, ENST00000329548.5
      Conserved Domains (1) summary
      cl21472
      Location:6 → 328
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53251197..53254406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269197.2 → XP_005269254.1  molybdate-anion transporter isoform X1

      See identical proteins and their annotated locations for XP_005269254.1

      UniProtKB/Swiss-Prot
      Q6N075
      Conserved Domains (2) summary
      pfam07690
      Location:155 → 488
      MFS_1; Major Facilitator Superfamily
      cl21472
      Location:113 → 435
      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 ...

    2. XM_005269198.5 → XP_005269255.1  molybdate-anion transporter isoform X2

      See identical proteins and their annotated locations for XP_005269255.1

      UniProtKB/Swiss-Prot
      G3V1N7, Q6N075, Q6NW04, Q8N7W8, Q8NCK0, Q96IA5
      Conserved Domains (1) summary
      cl21472
      Location:6 → 328
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53216787..53219996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373645.1 → XP_054229620.1  molybdate-anion transporter isoform X1

    2. XM_054373646.1 → XP_054229621.1  molybdate-anion transporter isoform X2

      UniProtKB/Swiss-Prot
      G3V1N7, Q6N075, Q6NW04, Q8N7W8, Q8NCK0, Q96IA5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6N075.2 GenPept UniProtKB/Swiss-Prot:Q6N075

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