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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MFSD5 Gene

protein-coding   GIFtS: 39
GCID: GC12P053645

major facilitator superfamily domain containing 5

  Search for MFSD5
in our new
 Human Malady Compendium 
Biological research products
for MFSD5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Major Facilitator Superfamily Domain Containing 51 2
MGC113081
Major Facilitator Superfamily Domain-Containing Protein 52

External Ids:    HGNC: 281561   Entrez Gene: 849752   Ensembl: ENSG000001825447   UniProtKB: Q6N0753   

Export aliases for MFSD5 gene to outside databases

Previous GC identifers: GC12P051932 GC12P050689


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MFSD5 gene promoter:
         PPAR-gamma1   E2F   p300   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMFSD5 promoter sequence
   Search SABiosciences Chromatin IP Primers for MFSD5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFSD5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

MFSD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFSD5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053645:  view genomic region     (about GC identifiers)

Start:
53,645,035 bp from pter      End:
53,648,190 bp from pter
Size:
3,156 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MFSD5_HUMAN, Q6N075 (See protein sequence)
Recommended Name: Major facilitator superfamily domain-containing protein 5  
Size: 450 amino acids; 49765 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAC05108.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Sequence=CAE45795.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q6NW04 Q8N7W8 Q8NCK0 Q96IA5

Explore the universe of human proteins at neXtProt for MFSD5: NX_Q6N075

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6N075

  • MFSD5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001164261.1  NP_116278.3  

    ENSEMBL proteins: 
     ENSP00000449354   ENSP00000332624   ENSP00000442688  

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    Uscn Proteins for MFSD5

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    MFSD5 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MFSD5 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR008509 DUF791
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q6N075

    ProtoNet protein and cluster: Q6N075

    UniProtKB/Swiss-Prot: MFSD5_HUMAN, Q6N075
    Similarity: Belongs to the major facilitator superfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-1271 hsa-miR-96
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    Inhib. RNA
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    Animal Models:
         Mouse knock-out Mfsd5tm1Lex for MFSD5
         1 MGI phenotypic allele for Mfsd5 (no phenotypes)

    MFSD5 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MFSD5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for MFSD5 (Q6N0753 ENSP000003326244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    PEX19ENSP000003570514STRING: ENSP00000357051
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--


    MFSD5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MFSD5
    Search CenterWatch for drugs/clinical trials and news about MFSD5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MFSD5 gene (2 alternative transcripts): 
    NM_001170790.1  NM_032889.4  

    Unigene Cluster for MFSD5:

    Major facilitator superfamily domain containing 5
    Hs.654660  [show with all ESTs]
    Unigene Representative Sequence: NM_001170790
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546655 ENST00000551660 ENST00000329548(uc001sci.2) ENST00000552097
    ENST00000534842(uc001sch.2)

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    hsa-miR-1271 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidMFSD5 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MFSD5 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): MFSD5 (NM_032889)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFSD5 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MFSD5
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    Additional cDNA sequence: 

    AK074684.1 AK097576.1 AK225998.1 AY358604.1 BC007703.2 BC067795.1 BX640649.1 

    6 DOTS entries:

    DT.443705  DT.97797060  DT.100766967  DT.95208877  DT.100811026  DT.97817240 

    24/162 AceView cDNA sequences (see all 162):

    BM015349 BF437217 BM781993 BM764084 BM763616 BU509556 BE877799 BF574940 
    AA306638 AL555944 AL534846 BU622768 BF725651 AK097576 AY358604 BQ014518 
    AJ289878 BI916905 BM820296 BX640649 AI583572 BQ072939 AL529419 BI916174 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MFSD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGGGGGTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MFSD5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MFSD5

    SOURCE GeneReport for Unigene cluster: Hs.654660
        SABiosciences Custom PCR Arrays for MFSD5
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFSD5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MFSD5 gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mfsd51 , 5 major facilitator superfamily domain containing 51, 5 88.15(n)1
    96.22(a)1
      15 (57.44 cM)5
    1060731  NM_134100.41  NP_598861.11 
     1022794565 
    chicken
    (Gallus gallus)
    Aves MFSD51 major facilitator superfamily domain containing 5 69.37(n)
    71.23(a)
      777286  XM_003643455.1  XP_003643503.1 
    lizard
    (Anolis carolinensis)
    Reptilia MFSD56
    --
    77(a)
    1 ↔ 1
    2(69787475-69788833)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.190802 Xenopus laevis transcribed sequences 83.26(n)    BI675619.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mfsd51 major facilitator superfamily domain containing 5 61.47(n)
    62.3(a)
      436986  NM_001002713.1  NP_001002713.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54G2A.46
    --
    32(a)
    1 ↔ 1
    IV(2931407-2936824)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G230936
    major facilitator protein
    18(a)
    1 ↔ 1
    2(9832123-9834739)
    rice
    (Oryza sativa)
    Liliopsida --
    expressed protein
    18(a)
    1 ↔ 1
    8(739821-744515)


    ENSEMBL Gene Tree for MFSD5 (if available)
    TreeFam Gene Tree for MFSD5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/104 NCBI SNPs in MFSD5 are shown (see all 104    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1853169031,2
    --53643376(+) ATCACA/GCCATT 1 -- us2k10--------
    rs1487245121,2
    --53643382(+) CCATTA/GCACTC 1 -- us2k10--------
    rs782643231,2
    C,F,--53643473(+) TATAAT/CTGCAG 1 -- us2k11Minor allele frequency- C:0.14WA 118
    rs1435707871,2
    --53643537(+) TACTAC/TGTAAC 1 -- us2k10--------
    rs1468211931,2
    --53643611(+) CAGATA/GAGATA 1 -- us2k10--------
    rs1901198181,2
    --53643913(+) AGTGGC/TGTAAT 2 -- us2k10--------
    rs1143470881,2
    F,--53643999(+) AAGCGC/TGCACC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1807402561,2
    --53644131(+) ATTCTC/TCTGCC 2 -- us2k10--------
    rs1851435831,2
    --53644157(+) GCTGGA/GATTAC 2 -- us2k10--------
    rs1922266791,2
    --53644198(+) TTTGTA/TATTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MFSD5 (53645035 - 53648190 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MFSD5: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFSD5
    DNA2.0 Custom Variant and Variant Library Synthesis for MFSD5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MFSD5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MFSD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84975 HGNC: 28156 AceView: MGC11308 Ensembl:ENSG00000182544 euGenes: HUgn84975
    ECgene: MFSD5 H-InvDB: MFSD5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MFSD5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MFSD5 gene:
    Search GeneIP for patents involving MFSD5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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