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NSFL1C Gene

protein-coding   GIFtS: 60
GCID: GC20M001422

NSFL1 (P97) Cofactor (P47)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
NSFL1 (P97) Cofactor (P47)1 2     UBX Domain Protein 2C1
UBXN2C2 3     UBX12
P97 Cofactor P472 3     UBXD102
UBX Domain-Containing Protein 2C2 3     dJ776F14.12
P472 5     NSFL1 Cofactor P472
SHP1 Homolog (S. Cerevisiae)1     SHP1 Homolog2

External Ids:    HGNC: 159121   Entrez Gene: 559682   Ensembl: ENSG000000888337   OMIM: 6066105   UniProtKB: Q9UNZ23   
ORGUL members:         

Export aliases for NSFL1C gene to outside databases

Previous GC identifers: GC20U990055 GC20M001371 GC20M001417 GC20M001372


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NSFL1C Gene:
N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved
in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein
encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi
cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related
pseudogene has been identified on chromosome 8. (provided by RefSeq, May 2011)

GeneCards Summary for NSFL1C Gene:
NSFL1C (NSFL1 (p97) cofactor (p47)) is a protein-coding gene. GO annotations related to this gene include lipid binding. An important paralog of this gene is UBXN2A.

UniProtKB/Swiss-Prot: NSF1C_HUMAN, Q9UNZ2
Function: Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and
for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP-mediated formation of
transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro)

Gene Wiki entry for NSFL1C Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NSFL1C gene promoter:
         AhR   Bach1   ER-alpha   POU6F1 (c2)   Arnt   E2F-1   E2F   USF-1   LyF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NSFL1C promoter sequence
   Search Chromatin IP Primers for NSFL1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NSFL1C


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

NSFL1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSFL1C gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M001422:  view genomic region     (about GC identifiers)

Start:
1,422,807 bp from pter      End:
1,454,487 bp from pter
Size:
31,681 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NSF1C_HUMAN, Q9UNZ2 (See protein sequence)
Recommended Name: NSFL1 cofactor p47  
Size: 370 amino acids; 40573 Da
Subunit: Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer that binds to one
end of a VCP homohexamer. The complex binds to membranes enriched in phosphatidylethanolamine-containing lipids
and promotes Golgi membrane fusion. Interaction with VCIP135 leads to dissociation of the complex via ATP
hydrolysis by VCP. Binds ubiquitin and mono-ubiquitinated proteins via its N-terminal UBA-like domain when bound
to VCP (By similarity)
Sequence caution: Sequence=AAF17199.1; Type=Frameshift; Positions=Several; Sequence=AAF17199.1; Type=Miscellaneous
discrepancy; Note=Sequencing errors;
1 PDB 3D structure from and Proteopedia for NSFL1C:
1SS6 (3D)    
Secondary accessions: A2A2L1 B2RD74 Q5JXA4 Q5JXA5 Q7Z533 Q9H102 Q9NVL9 Q9UI06
Alternative splicing: 4 isoforms:  Q9UNZ2-1   Q9UNZ2-4   Q9UNZ2-5   Q9UNZ2-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSFL1C: NX_Q9UNZ2

Explore proteomics data for NSFL1C at MOPED

Post-translational modifications: 

  • Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the
    fragmentation of the Golgi stacks during mitosis (By similarity)1
  • Ubiquitination2 at Lys112, Lys113, Lys124, Lys127, Lys146, Lys172, Lys188, Lys251, Lys259
  • Modification sites at PhosphoSitePlus

  • See NSFL1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001193665.1  NP_057227.2  NP_061327.2  

    ENSEMBL proteins: 
     ENSP00000338643   ENSP00000452019   ENSP00000418529   ENSP00000216879   ENSP00000434067  
     ENSP00000451675   ENSP00000473400   ENSP00000473616   ENSP00000202584   ENSP00000371074  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBXN: UBX domain containing

    3 InterPro protein domains:
     IPR012989 SEP_domain
     IPR001012 UBX
     IPR009060 UBA-like

    Graphical View of Domain Structure for InterPro Entry Q9UNZ2

    ProtoNet protein and cluster: Q9UNZ2

    2 Blocks protein domains:
    IPB001012 UBX domain
    IPB012989 SEP


    UniProtKB/Swiss-Prot: NSF1C_HUMAN, Q9UNZ2
    Similarity: Belongs to the NSFL1C family
    Similarity: Contains 1 SEP domain
    Similarity: Contains 1 UBX domain


    Find genes that share domains with NSFL1C           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSF1C_HUMAN, Q9UNZ2
    Function: Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and
    for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP-mediated formation of
    transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16275660
    GO:0008289lipid binding IEA--
         
    Find genes that share ontologies with NSFL1C           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Nsfl1c (no phenotypes)

    Find genes that share phenotypes with NSFL1C           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NSFL1C

    miRNA
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    miRTarBase miRNAs that target NSFL1C:
    hsa-mir-92a-3p (MIRT049768), hsa-mir-320a (MIRT044711), hsa-mir-142-3p (MIRT021624), hsa-mir-484 (MIRT042168), hsa-mir-146b-5p (MIRT041619), hsa-mir-375 (MIRT019752)

    Block miRNA regulation of human, mouse, rat NSFL1C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NSFL1C (see all 30):
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    SwitchGear 3'UTR luciferase reporter plasmidNSFL1C 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NSF1C_HUMAN, Q9UNZ2: Nucleus (By similarity). Golgi apparatus, Golgi stack (By similarity). Chromosome (By
    similarity). Note=Predominantly nuclear in interphase cells. Bound to the axial elements of sex chromosomes in
    pachytene spermatocytes. A small proportion of the protein is cytoplasmic, associated with Golgi stacks (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    golgi apparatus2
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005795Golgi stack IEA--

    Find genes that share ontologies with NSFL1C           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NSFL1C About    
    See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with NSFL1C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for NSFL1C):
        Protein processing in endoplasmic reticulum

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NSFL1C
    Interactions:

        GeneGlobe Interaction Network for NSFL1C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NSFL1C (Q9UNZ21, 2, 3 ENSP000002168794) via UniProtKB, MINT, STRING, and/or I2D (see all 170)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NSFL1C (NSF1C)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NSFL1C gene (4 alternative transcripts): 
    NM_001206736.1  NM_016143.4  NM_018839.4  NM_182483.1  

    Unigene Cluster for NSFL1C:

    NSFL1 (p97) cofactor (p47)
    Hs.12865  [show with all ESTs]
    Unigene Representative Sequence: AK128722
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461211 ENST00000353088 ENST00000555944 ENST00000476071 ENST00000216879(uc002wfc.3 uc021vzq.1 uc002wfe.3)
    ENST00000381653 ENST00000555568 ENST00000470376 ENST00000553571 ENST00000489203
    ENST00000555359 ENST00000487086 ENST00000478168 ENST00000350991 ENST00000381658

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    Selected qRT-PCR Assays for microRNAs that regulate NSFL1C (see all 30):
    hsa-miR-194* hsa-miR-3689b hsa-miR-1288 hsa-miR-4299 hsa-miR-520a-5p hsa-miR-29b-1* hsa-miR-570 hsa-miR-378b
    SwitchGear 3'UTR luciferase reporter plasmidNSFL1C 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat NSFL1C

    Additional mRNA sequence: 

    AF078856.1 AF086909.1 AF283774.2 AK001511.1 AK023585.1 AK093845.1 AK128722.1 AK223334.1 
    AK223341.1 AK297403.1 AK315433.1 BC002801.2 NR_038164.1 

    23 DOTS entries:

    DT.40279064  DT.97803109  DT.86847386  DT.91774467  DT.40193022  DT.40303350  DT.95356421  DT.95356434 
    DT.100719239  DT.120798521  DT.120798775  DT.40285168  DT.91774458  DT.120798748  DT.95356419  DT.100877726 
    DT.120798751  DT.120798773  DT.91774466  DT.91774469  DT.95356430  DT.97773722  DT.92028153 

    Selected AceView cDNA sequences (see all 470):

    CB160928 BU728449 CN480857 AI440483 BG747775 AV710714 BU501312 BM552497 
    BQ279221 BG763473 CA443302 BG252804 BI830016 Z39220 BM825410 BU952441 
    AA905686 BQ007132 BU731800 AA877748 AA210904 BG679674 CD300447 AW135654 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NSFL1C (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a ·
    SP1:                                -     -                 -     -     -                                                     -     -     -                     
    SP2:                                -     -                 -     -     -                                                     -                                 
    SP3:                                -     -                 -     -     -                       -                             -     -     -                     
    SP4:                                -     -                 -     -     -     -     -                                         -                                 
    SP5:                          -     -     -                 -     -     -     -     -                                         -     -     -                     

    ExUns: 13b ^ 14a · 14b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for NSFL1C

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NSFL1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGATCGCCC
    NSFL1C Expression
    About this image


    NSFL1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Secondary Spermatocyte Seminiferous Tubules
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Gonad
             Secondary Spermatocyte Seminiferous Tubules
    NSFL1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSFL1C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12865
        Custom PCR Arrays for NSFL1C
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSFL1C

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSFL1C gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsfl1c1 , 5 NSFL1 (p97) cofactor (p47)1, 5 91.85(n)1
    96.24(a)1
      2 (74.83 cM)5
    3866491  NM_198326.21  NP_938085.11 
     1514941825 
    chicken
    (Gallus gallus)
    Aves NSFL1C1 NSFL1 (p97) cofactor (p47) 80.98(n)
    88.32(a)
      419268  NM_001030859.1  NP_001026030.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSFL1C6
    NSFL1 (p97) cofactor (p47)
    87(a)
    1 ↔ 1
    GL343346.1(959623-978727)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041297.12   -- 78.12(n)    BC041297.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmzehn23832 hmzehn2383 75.52(n)   337763  CD760325.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta p471 p47 49.18(n)
    42.31(a)
      35674  NM_136440.6  NP_610284.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ubxn-26
    Protein UBXN-2, isoform a
    30(a)
    1 → many
    IV(2720323-2725858) WBGene00022381
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SHP1(YBL058W)4
    SHP11
    UBX (ubiquitin regulatory X) domain-containing protein more4
    SHP11
    42.03(n)1
    32.78(a)1
      2(111437-112708)4
    8522221, 4  NP_009495.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PUX41 PUX4 46.74(n)
    39.84(a)
      825736  NM_116659.4  NP_567262.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04645001 Os04g0464500 48.84(n)
    38.37(a)
      4336083  NM_001059553.1  NP_001053018.1 


    ENSEMBL Gene Tree for NSFL1C (if available)
    TreeFam Gene Tree for NSFL1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NSFL1C gene
    UBXN2A2  UBXN2B2  
    2 SIMAP similar genes for NSFL1C using alignment to 7 protein entries:     NSF1C_HUMAN (see all proteins):
    UBXN2A    UBXN2B

    Find genes that share paralogs with NSFL1C           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NSFL1C
    PGOHUM00000249329


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NSFL1C (see all 580)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116997351,2
    C,F,H--1422348(+) TGGAAC/TCAGAC 4 -- ds500112Minor allele frequency- T:0.49NA WA EA 512
    rs1140438671,2
    F--1422399(+) AACTGT/CGGTGG 4 -- ds50011Minor allele frequency- C:0.02WA 118
    rs1113904771,2
    C--1422453(+) TACTT-/CCCAGA 4 -- ds50011Minor allele frequency- C:0.00CSA 2
    rs1164503841,2
    C,F--1422472(+) GGGCCC/ATGTGC 4 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1842441721,2
    --1422482(+) CAAACC/TACCGT 4 -- ds50010--------
    rs1888584251,2
    --1422486(+) CTACCA/GTAGAT 4 -- ds50010--------
    rs1417396821,2
    --1422567(+) AGAAGC/GAGGTA 4 -- ds50010--------
    rs1821223871,2
    --1422617(+) GGATGA/GAGTGT 4 -- ds50010--------
    rs764688411,2
    F--1422753(+) AAGTAC/TTTCTG 4 -- ds50011Minor allele frequency- T:0.02EA 120
    rs1847113541,2
    --1422766(+) GGCTGC/TTGTAG 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for NSFL1C (1422807 - 1454487 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NSFL1C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3252CNV Insertion18451855
    nsv833893CNV Loss17160897
    nsv522008CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NSFL1C
    DNA2.0 Custom Variant and Variant Library Synthesis for NSFL1C

    (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

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    OMIM gene information: 606610    OMIM disorders: --


    Find genes that share disorders with NSFL1C           About GenesLikeMe


    Export disorders for NSFL1C 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)
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    PubMed articles for NSFL1C gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with NSFL1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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. (Genome Res. 2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    6. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. The localization and phosphorylation of p47 are important for Golgi disassembly-assembly during the cell cycle. (PubMed id 12810701)1, 9 Uchiyama K....Kondo H. (J. Cell Biol. 2003)
    8. Syntaxin 5 is a common component of the NSF- and p97-mediated reassembly pathways of Golgi cisternae from mitotic Golgi fragments in vitro. (PubMed id 9506515)1, 9 Rabouille C....Warren G. (Cell 1998)
    9. VCIP135, a novel essential factor for p97/p47-mediated membrane fusion, is required for Golgi and ER assembly in vivo. (PubMed id 12473691)1, 9 Uchiyama K....Kondo H. (J. Cell Biol. 2002)
    10. The UBXN-2/p37/p47 adaptors of CDC-48/p97 regulate mitosis by limiting the centrosomal recruitment of Aurora A. (PubMed id 23649807)1 Kress E....Gotta M. (J. Cell Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 55968 HGNC: 15912 AceView: NSFL1C Ensembl:ENSG00000088833 euGenes: HUgn55968
    ECgene: NSFL1C Kegg: 55968 H-InvDB: NSFL1C

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NSFL1C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NSFL1C gene:
    Search GeneIP for patents involving NSFL1C

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



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