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MFSD1 major facilitator superfamily domain containing 1 [ Homo sapiens (human) ]

Gene ID: 64747, updated on 22-Sep-2022

Summary

Official Symbol
MFSD1provided by HGNC
Official Full Name
major facilitator superfamily domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25874
See related
Ensembl:ENSG00000118855 MIM:619976; AllianceGenome:HGNC:25874
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
SMAP4; Minerva
Summary
Predicted to enable protein homodimerization activity. Predicted to be involved in protein localization to lysosome and protein stabilization. Predicted to be located in lysosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in appendix (RPKM 32.7), esophagus (RPKM 31.9) and 25 other tissues See more
Orthologs
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Genomic context

See MFSD1 in Genome Data Viewer
Location:
3q25.32
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (158802054..158829716)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (161575980..161603601)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (158519843..158547505)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100287290 Neighboring gene VISTA enhancer hs1990 Neighboring gene ribosomal protein L35a pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 7446 Neighboring gene G protein-coupled receptor 79, pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14153

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in protein localization to lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
major facilitator superfamily domain-containing protein 1
Names
smooth muscle cell-associated protein 4

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_001167903.3NP_001161375.2  major facilitator superfamily domain-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1, one of which results in a restricted translational frameshift in the 5' coding region. The resulting protein (isoform 2) has a distinct segment and is shorter than isoform 1.
    Source sequence(s)
    AC080013, AK297593, AK300497, BU608918
    Consensus CDS
    CCDS54666.1
    UniProtKB/TrEMBL
    A0A494C105
    Related
    ENSP00000498818.1, ENST00000651862.1
    Conserved Domains (1) summary
    cd17340
    Location:49388
    MFS_MFSD1; Major facilitator superfamily domain-containing protein 1
  2. NM_001289406.3NP_001276335.1  major facilitator superfamily domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001276335.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This results in an isoform (3) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK294628, AK297593, BC017661
    UniProtKB/Swiss-Prot
    Q9H3U5
    Conserved Domains (1) summary
    cd17340
    Location:14330
    MFS_MFSD1; Major facilitator superfamily domain-containing protein 1
  3. NM_001289407.3NP_001276336.1  major facilitator superfamily domain-containing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001276336.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) 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. This results in an isoform (4) that has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK297593, AK301680, BC017661, BU608918
    UniProtKB/Swiss-Prot
    Q9H3U5
    Conserved Domains (2) summary
    cd06174
    Location:1354
    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 ...
    pfam07690
    Location:8330
    MFS_1; Major Facilitator Superfamily
  4. NM_022736.4NP_073573.3  major facilitator superfamily domain-containing protein 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK297593, BC017661
    Consensus CDS
    CCDS3185.2
    UniProtKB/Swiss-Prot
    Q9H7X1
    Related
    ENSP00000403117.3, ENST00000415822.8
    Conserved Domains (1) summary
    cd06174
    Location:49427
    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_110328.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK297593, BC017661, BC030542
    Related
    ENST00000480292.5

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    158802054..158829716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448733.1XP_047304689.1  major facilitator superfamily domain-containing protein 1 isoform X2

  2. XM_006713730.3XP_006713793.2  major facilitator superfamily domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    A0A494C105
    Conserved Domains (1) summary
    cd17340
    Location:49388
    MFS_MFSD1; Major facilitator superfamily domain-containing protein 1
  3. XM_047448732.1XP_047304688.1  major facilitator superfamily domain-containing protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    161575980..161603601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)