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Aliases for NSFL1C Gene

Aliases for NSFL1C Gene

  • NSFL1 Cofactor 2 3 5
  • UBX Domain-Containing Protein 2C 3 4
  • NSFL1 (P97) Cofactor (P47) 2 3
  • P97 Cofactor P47 3 4
  • UBXN2C 3 4
  • SHP1 Homolog (S. Cerevisiae) 2
  • UBX Domain Protein 2C 2
  • NSFL1 Cofactor P47 3
  • SHP1 Homolog 3
  • DJ776F14.1 3
  • UBXD10 3
  • UBX1 3
  • P47 3

External Ids for NSFL1C Gene

Previous GeneCards Identifiers for NSFL1C Gene

  • GC20U990055
  • GC20M001371
  • GC20M001417
  • GC20M001372
  • GC20M001422

Summaries for NSFL1C Gene

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 Cofactor) is a Protein Coding gene. Among its related pathways are Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is UBXN2B.

UniProtKB/Swiss-Prot for NSFL1C Gene

  • Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro) (PubMed:15498563). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807).

Gene Wiki entry for NSFL1C Gene

Additional gene information for NSFL1C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSFL1C Gene

Genomics for NSFL1C Gene

GeneHancer (GH) Regulatory Elements for NSFL1C Gene

Promoters and enhancers for NSFL1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J001464 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 675.9 +5.9 5850 6.7 MLX IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 NSFL1C SIRPB2 SDCBP2 SNPH FKBP1A GC20M001435
GH20J001476 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 650.7 -4.6 -4607 3 JUND ZFP3 JUN IKZF1 CEBPB FOSL2 FOS NSFL1C SIRPB2
GH20J001472 Enhancer 1 Ensembl ENCODE dbSUPER 667.1 +0.9 904 0.9 ZSCAN4 ZMYM3 MNT ZNF623 POLR2A GABPB1 KDM1A SPI1 NSFL1C SIRPB2 GC20M001435
GH20J001474 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.1 -1109 0.2 CTCF RAD21 NSFL1C SIRPB2
GH20J001433 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.1 +39.1 39060 2 HDAC1 PKNOX1 ATF1 ZBTB40 YY1 TCF12 ZNF766 ETV6 ATF7 BCLAF1 GC20M001435 NSFL1C FKBP1A SDCBP2 ENSG00000229728 SNPH LOC105372497
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSFL1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NSFL1C gene promoter:
  • ER-alpha
  • LyF-1
  • E2F-1
  • E2F
  • Bach1
  • Pax-4a
  • Arnt
  • AhR
  • POU6F1 (c2)
  • USF-1

Genomic Locations for NSFL1C Gene

Genomic Locations for NSFL1C Gene
chr20:1,442,162-1,473,842
(GRCh38/hg38)
Size:
31,681 bases
Orientation:
Minus strand
chr20:1,422,807-1,454,487
(GRCh37/hg19)
Size:
31,681 bases
Orientation:
Minus strand

Genomic View for NSFL1C Gene

Genes around NSFL1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSFL1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSFL1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSFL1C Gene

Proteins for NSFL1C Gene

  • Protein details for NSFL1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNZ2-NSF1C_HUMAN
    Recommended name:
    NSFL1 cofactor p47
    Protein Accession:
    Q9UNZ2
    Secondary Accessions:
    • A2A2L1
    • B2RD74
    • Q5JXA4
    • Q5JXA5
    • Q7Z533
    • Q9H102
    • Q9NVL9
    • Q9UI06

    Protein attributes for NSFL1C Gene

    Size:
    370 amino acids
    Molecular mass:
    40573 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAF17199.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAF17199.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NSFL1C Gene

    Alternative splice isoforms for NSFL1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSFL1C Gene

Post-translational modifications for NSFL1C Gene

  • Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the fragmentation of the Golgi stacks during mitosis (By similarity).
  • Ubiquitination at isoforms=4, 5, 6259, Lys251, isoforms=4, 5, 6188, Lys146, and Lys127
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NSFL1C Gene

Domains & Families for NSFL1C Gene

Gene Families for NSFL1C Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NSFL1C Gene

Suggested Antigen Peptide Sequences for NSFL1C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UNZ2

UniProtKB/Swiss-Prot:

NSF1C_HUMAN :
  • Belongs to the NSFL1C family.
Family:
  • Belongs to the NSFL1C family.
genes like me logo Genes that share domains with NSFL1C: view

Function for NSFL1C Gene

Molecular function for NSFL1C Gene

UniProtKB/Swiss-Prot Function:
Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro) (PubMed:15498563). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807).

Phenotypes From GWAS Catalog for NSFL1C Gene

Gene Ontology (GO) - Molecular Function for NSFL1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16275660
GO:0005543 phospholipid binding IEA --
GO:0008289 lipid binding IEA --
GO:0019888 protein phosphatase regulator activity IBA --
GO:0043130 ubiquitin binding IBA --
genes like me logo Genes that share ontologies with NSFL1C: view
genes like me logo Genes that share phenotypes with NSFL1C: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NSFL1C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSFL1C Gene

Localization for NSFL1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSFL1C Gene

Nucleus. Golgi apparatus, Golgi stack. Chromosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. 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. Localizes to centrosome during mitotic prophase and metaphase. {ECO:0000250 UniProtKB:O35987}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSFL1C gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
golgi apparatus 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSFL1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IEA --
genes like me logo Genes that share ontologies with NSFL1C: view

Pathways & Interactions for NSFL1C Gene

genes like me logo Genes that share pathways with NSFL1C: view

Pathways by source for NSFL1C Gene

1 KEGG pathway for NSFL1C Gene

SIGNOR curated interactions for NSFL1C Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NSFL1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA --
GO:0007030 Golgi organization IBA --
GO:0031468 nuclear envelope reassembly IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
GO:0043666 regulation of phosphoprotein phosphatase activity IEA --
genes like me logo Genes that share ontologies with NSFL1C: view

Drugs & Compounds for NSFL1C Gene

No Compound Related Data Available

Transcripts for NSFL1C Gene

mRNA/cDNA for NSFL1C Gene

Unigene Clusters for NSFL1C Gene

NSFL1 (p97) cofactor (p47):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSFL1C Gene

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: - - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - - - - -
SP8: - - - -
SP9: - - - - - - -
SP10: - - - -
SP11: - - -
SP12: - - -
SP13:
SP14: - - -
SP15:

ExUns: 13b ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for NSFL1C Gene

GeneLoc Exon Structure for
NSFL1C
ECgene alternative splicing isoforms for
NSFL1C

Expression for NSFL1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NSFL1C Gene

Protein differential expression in normal tissues from HIPED for NSFL1C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NSFL1C Gene



Protein tissue co-expression partners for NSFL1C Gene

NURSA nuclear receptor signaling pathways regulating expression of NSFL1C Gene:

NSFL1C

SOURCE GeneReport for Unigene cluster for NSFL1C Gene:

Hs.12865

Evidence on tissue expression from TISSUES for NSFL1C Gene

  • Nervous system(4.8)
  • Adrenal gland(4.3)
  • Liver(4.3)
  • Blood(4.2)
  • Lung(3.1)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with NSFL1C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSFL1C Gene

Orthologs for NSFL1C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSFL1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSFL1C 34 33
  • 99.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSFL1C 34 33
  • 93.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSFL1C 34 33
  • 93.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nsfl1c 16 34 33
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Nsfl1c 33
  • 90.99 (n)
oppossum
(Monodelphis domestica)
Mammalia NSFL1C 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSFL1C 34 33
  • 80.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSFL1C 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5402 33
zebrafish
(Danio rerio)
Actinopterygii nsfl1c 34 34
  • 72 (a)
OneToMany
LOC100537232 33
  • 69.39 (n)
hmzehn2383 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10070 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005122 33
  • 51.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta p47 34 33
  • 49.18 (n)
ManyToMany
CG42383 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ubxn-2 34
  • 30 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR211C 33
  • 43.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20043g 33
  • 43.71 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SHP1 36 34 33
  • 42.03 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PUX4 33
  • 46.74 (n)
rice
(Oryza sativa)
Liliopsida Os04g0464500 33
  • 48.84 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01100 33
  • 45.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2402 34
  • 44 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubx3 33
  • 43.58 (n)
Species where no ortholog for NSFL1C was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSFL1C Gene

ENSEMBL:
Gene Tree for NSFL1C (if available)
TreeFam:
Gene Tree for NSFL1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NSFL1C: view image

Paralogs for NSFL1C Gene

Paralogs for NSFL1C Gene

(2) SIMAP similar genes for NSFL1C Gene using alignment to 7 proteins:

  • NSF1C_HUMAN
  • F2Z2K0_HUMAN
  • G3V4V8_HUMAN
  • J3QK90_HUMAN
  • L8EBH2_HUMAN
  • R4GMY2_HUMAN
  • R4GNE6_HUMAN

Pseudogenes.org Pseudogenes for NSFL1C Gene

genes like me logo Genes that share paralogs with NSFL1C: view

Variants for NSFL1C Gene

Sequence variations from dbSNP and Humsavar for NSFL1C Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000006974 -- 1,447,135(-) A/C intron_variant
rs1000075141 -- 1,464,094(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000100019 -- 1,459,163(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000132572 -- 1,459,571(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000253025 -- 1,452,755(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NSFL1C Gene

Variant ID Type Subtype PubMed ID
nsv3252 CNV insertion 18451855
nsv522008 CNV gain 19592680
nsv585206 CNV gain 21841781
nsv833893 CNV loss 17160897

Variation tolerance for NSFL1C Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.40; 94.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSFL1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSFL1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSFL1C Gene

Disorders for NSFL1C Gene

Additional Disease Information for NSFL1C

No disorders were found for NSFL1C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NSFL1C Gene

Publications for NSFL1C Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 58
  2. The UBXN-2/p37/p47 adaptors of CDC-48/p97 regulate mitosis by limiting the centrosomal recruitment of Aurora A. (PMID: 23649807) Kress E … Gotta M (The Journal of cell biology 2013) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for NSFL1C Gene

Sources for NSFL1C Gene

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