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

SFT2D1 Gene

protein-coding   GIFtS: 43
GCID: GC06M166654

SFT2 domain containing 1

(Previous name: chromosome 6 open reading frame 83 )
(Previous symbol: C6orf83)
  Search for SFT2D1
in our new
 Human Malady Compendium 
Biological research products
for SFT2D1
    

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

Aliases
SFT2 Domain Containing 11 2     MGC198251
C6orf831 2 3     Chromosome 6 Open Reading Frame 831
PRGR11     Vesicle Transport Protein SFT2A2
SFT2 Domain-Containing Protein 12 3     

External Ids:    HGNC: 211021   Entrez Gene: 1134022   Ensembl: ENSG000001988187   UniProtKB: Q8WV193   

Export aliases for SFT2D1 gene to outside databases

Previous GC identifers: GC06M166704 GC06M164204


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

UniProtKB/Swiss-Prot: SFT2A_HUMAN, Q8WV19
Function: May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the
Golgi complex (By similarity)




(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFT2D1 gene promoter:
         AP-4   E47   Meis-1b   c-Ets-1   IRF-2   FOXC1   POU2F1c   Meis-1a   En-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFT2D1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFT2D1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFT2D1


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

SFT2D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFT2D1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M166654:  view genomic region     (about GC identifiers)

Start:
166,733,216 bp from pter      End:
166,756,079 bp from pter
Size:
22,864 bases      Orientation:
minus 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: SFT2A_HUMAN, Q8WV19 (See protein sequence)
Recommended Name: Vesicle transport protein SFT2A  
Size: 159 amino acids; 17804 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAF18564.1; Type=Erroneous initiation;
Secondary accessions: Q5TI64 Q9UIC7

Explore the universe of human proteins at neXtProt for SFT2D1: NX_Q8WV19

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WV19

  • SFT2D1 Protein expression data from MOPED and PaxDb:    About this image 
    SFT2D1 Protein Expression
    REFSEQ proteins: NP_660152.1  
    ENSEMBL proteins: 
     ENSP00000354590  

    Human Recombinant Protein Products for SFT2D1: 
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    Uscn Proteins for SFT2D1

    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--

    SFT2D1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SFT2D1


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

    SFT2D1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR007305 Vesicle_transpt_Got1/SFT2
     IPR011691 Vesicle_transpt_SFT2

    Graphical View of Domain Structure for InterPro Entry Q8WV19

    ProtoNet protein and cluster: Q8WV19

    UniProtKB/Swiss-Prot: SFT2A_HUMAN, Q8WV19
    Similarity: Belongs to the SFT2 family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SFT2A_HUMAN, Q8WV19
    Function: May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the
    Golgi complex (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for SFT2D1:

     Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SFT2D1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SFT2D1:
    hsa-miR-29a*
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFT2D1


    (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 SFT2D1

    1 Interacting protein for SFT2D1 (Q8WV193) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIAH1Q8IUQ43I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--

    SFT2D1 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 SFT2D1
    Search CenterWatch for drugs/clinical trials and news about SFT2D1 / SFT2A 

    (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, Sirion Biotech, 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 SFT2D1 gene: 
    NM_145169.1  

    Unigene Cluster for SFT2D1:

    SFT2 domain containing 1
    Hs.487143  [show with all ESTs]
    Unigene Representative Sequence: AL833217
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361731(uc003qux.3) ENST00000487841 ENST00000479490 ENST00000478705
    ENST00000488773 ENST00000494682

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SFT2D1:
    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidSFT2D1 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SFT2D1 (see all 7)
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    OriGene siRNA: SFT2D1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SFT2D1 
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFT2D1
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    Additional cDNA sequence: 

    AF041429.1 AK021489.1 AK090795.1 AL832690.1 AL833217.1 BC018969.1 BC028388.1 

    14 DOTS entries:

    DT.445020  DT.91962764  DT.100761892  DT.99930512  DT.95286873  DT.100761890  DT.40131894  DT.95256834 
    DT.95280689  DT.91965435  DT.100648774  DT.91767628  DT.121367132  DT.40126889 

    24/156 AceView cDNA sequences (see all 156):

    AA485179 BX354406 AI908082 BE006748 AI815979 BQ446536 AL712341 BE006749 
    D62795 AI878998 BE006747 AI879497 AI816062 AI040158 BX354407 BQ023883 
    AW955053 CA414057 BX385677 CK820799 CA412928 BV176852 CB161192 BG533909 

    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

    SFT2D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTGATTAAA
    SFT2D1 Expression
    About this image
    See SFT2D1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFT2D1

    SOURCE GeneReport for Unigene cluster: Hs.487143
        SABiosciences Custom PCR Arrays for SFT2D1

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFT2D1

    (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 SFT2D1 gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sft2d11 , 5 SFT2 domain containing 11, 5 86.29(n)1
    91.77(a)1
      17 (4.92 cM)5
    1064891  NM_134114.21  NP_598875.21 
     83111025 
    chicken
    (Gallus gallus)
    Aves SFT2D11 SFT2 domain containing 1 76.58(n)
    81.65(a)
      769380  XM_001232142.2  XP_001232143.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.111362 Transcribed sequence with weak similarity to protein more 76.91(n)    CF589492.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sft2d11 SFT2 domain containing 1 67.71(n)
    75.47(a)
      393343  NM_200372.1  NP_956666.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51041 CG5104 59.7(n)
    58.23(a)
      40280  NM_140984.1  NP_649241.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F27D4.71 Protein F27D4.7 47.62(n)
    38.1(a)
      3565210  NM_001026251.1  NP_001021422.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G241701 Got1/Sft2-like vescicle transport protein family 50(n)
    40.26(a)
      832484  NM_122323.4  NP_197805.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g02191001 hypothetical protein 49.89(n)
    40.65(a)
      4324591  NM_001048952.2  NP_001042417.2 


    ENSEMBL Gene Tree for SFT2D1 (if available)
    TreeFam Gene Tree for SFT2D1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFT2D1 gene
    SFT2D22  
    1 SIMAP similar gene for SFT2D1 using alignment to 2 protein entries:     SFT2A_HUMAN (see all proteins):
    SFT2D2

    SFT2D1 for paralogs           About GeneDecksing



    (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

    10/81 NCBI SNPs in SFT2D1 are shown (see all 81    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1124235511,2
    C--164225153(+) TTATATACT/-  
            
    TACTT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs793662651,2
    --164225987(+) TCTGAA/TCCCAA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs2005484531,2
    C--164226268(+) ATTAAA/GAAAAA 1 -- int10--------
    rs732631971,2
    C--164227019(+) GAAGTC/GCGGTC 1 -- int12Minor allele frequency- G:0.12WA 120
    rs764011081,2
    F--164227526(+) GCGAGG/CAGCTG 1 -- int11Minor allele frequency- C:0.03WA 118
    rs765114681,2
    C,F--164227542(+) CAGACC/TGTCTC 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1125474261,2
    --164227824(+) AAAAAT/CCAGGG 1 -- int12Minor allele frequency- C:0.03CSA WA 120
    rs1129473691,2
    --164227999(+) AGTTTC/TATTGT 1 -- int12Minor allele frequency- T:0.04CSA WA 120
    rs117566941,2
    C,H--164228607(+) cttgaA/Tgatat 1 -- int1 tfbs30--------
    rs351474031,2
    C--166736236(+) CAACC-/AAAAAA 1 -- int12Minor allele frequency- A:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for SFT2D1 (166733216 - 166756079 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SFT2D1
         3 CNVs: 94204 94203 81724

    SABiosciences Cancer Mutation PCR Assays
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    (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

    SFT2D1 for disorders           About MalaCards

    SFT2D1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: SFT2D1 (1 document)

    Export disorders for SFT2D1 gene to outside databases

    (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 SFT2D1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SFT2D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. 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)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 113402 HGNC: 21102 AceView: C6orf83 Ensembl:ENSG00000198818 euGenes: HUgn113402
    ECgene: SFT2D1 H-InvDB: SFT2D1

    (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 SFT2D1 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 SFT2D1 gene:
    Search GeneIP for patents involving SFT2D1

    GeneCards and IP:
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    (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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
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     Browse OriGene Antibodies   OriGene shRNA RFP for SFT2D1  
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     OriGene Custom Antibody Services for SFT2D1   OriGene Custom Protein Services for SFT2D1  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SFT2D1
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     Regulatory tfbs in SFT2D1 promoter
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     SFT2D1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SFT2D1
     Gene Synthesis
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     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFT2D1
     SwitchGear 3'UTR luciferase reporter plasmids for SFT2D1
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     Search ThermoFisher Antibodies for SFT2D1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFT2D1
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SFT2D1
    Sirion Biotech Customized:
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     design and validation of potent shRNA sequences against SFT2D1
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     adenovirus for overexpression of SFT2D1
     stable overexpressing cell line services for SFT2D1
     inducible overexpressing cell line services for SFT2D1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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