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MFSD3 major facilitator superfamily domain containing 3 [ Homo sapiens (human) ]

Gene ID: 113655, updated on 22-Sep-2022

Summary

Official Symbol
MFSD3provided by HGNC
Official Full Name
major facilitator superfamily domain containing 3provided by HGNC
Primary source
HGNC:HGNC:25157
See related
Ensembl:ENSG00000167700 AllianceGenome:HGNC:25157
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
Summary
Predicted to enable solute:proton symporter activity. Predicted to be involved in proton transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 7.9), colon (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

See MFSD3 in Genome Data Viewer
Location:
8q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144509070..144511213)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145678836..145680979)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145734453..145736596)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 16A Neighboring gene uncharacterized LOC101928953 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene glutamic--pyruvic transaminase Neighboring gene RecQ like helicase 4 Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables solute:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
major facilitator superfamily domain-containing protein 3

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_138431.3NP_612440.1  major facilitator superfamily domain-containing protein 3

    See identical proteins and their annotated locations for NP_612440.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    BC011982, DB455059, DB520468
    Consensus CDS
    CCDS6431.1
    UniProtKB/Swiss-Prot
    Q96ES6
    Related
    ENSP00000301327.3, ENST00000301327.5
    Conserved Domains (1) summary
    cl21472
    Location:16364
    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 ...

RNA

  1. NR_130120.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC011982, BF688676, DB455059, DB520468
    Related
    ENST00000528047.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144509070..144511213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013005.2XP_016868494.1  major facilitator superfamily domain-containing protein 3 isoform X1

  2. XM_011516806.3XP_011515108.1  major facilitator superfamily domain-containing protein 3 isoform X2

    Conserved Domains (1) summary
    cl21472
    Location:8172
    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_060932.1 Alternate T2T-CHM13v2.0

    Range
    145678836..145680979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)