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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
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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

Gene LinkOut

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

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