U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    NSFL1C NSFL1 cofactor [ Homo sapiens (human) ]

    Gene ID: 55968, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NSFL1Cprovided by HGNC
    Official Full Name
    NSFL1 cofactorprovided by HGNC
    Primary source
    HGNC:HGNC:15912
    See related
    Ensembl:ENSG00000088833 MIM:606610; AllianceGenome:HGNC:15912
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P47; UBX1; UBXD10; UBXN2C; dJ776F14.1
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 11.4), brain (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See NSFL1C in Genome Data Viewer
    Location:
    20p13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1442166..1466849, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1491358..1516046, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1422811..1447494, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene FKBP1A-SDCBP2 readthrough (NMD candidate) Neighboring gene FKBP prolyl isomerase 1A Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:1373090-1373590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12592 Neighboring gene uncharacterized LOC105372497 Neighboring gene microRNA 6869 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:1396577-1397776 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:1408109-1408868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:1446723-1447224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12593 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:1458844-1460043 Neighboring gene signal regulatory protein beta 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:1481226-1481777 Neighboring gene uncharacterized LOC105372499 Neighboring gene uncharacterized LOC105372498 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:1501740-1502939

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Degradation of p47 by autophagy contributes to CADM1 overexpression in ATLL cells through the activation of NF-κB. Sarkar B, et al. Sci Rep, 2019 Mar 5. PMID 30837480, Free PMC Article
    2. Translocator protein (18 kDa) regulates the microglial phenotype in Parkinson's disease through P47. Xue X, et al. Bioengineered, 2022 Apr. PMID 35475466, Free PMC Article
    3. p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly. Kaneko Y, et al. EMBO J, 2021 May 3. PMID 33555040, Free PMC Article
    4. Brain-derived neurotrophic factor promotes angiogenic tube formation through generation of oxidative stress in human vascular endothelial cells. Usui T, et al. Acta Physiol (Oxf), 2014 Jun. PMID 24612679
    5. p47 is a cofactor for p97-mediated membrane fusion. Kondo H, et al. Nature, 1997 Jul 3. PMID 9214505

    See all (126) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Translocator protein (18 kDa) regulates the microglial phenotype in Parkinson's disease through P47.
      Title: Translocator protein (18 kDa) regulates the microglial phenotype in Parkinson's disease through P47.
    2. p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.
      Title: p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.
    3. Degradation of p47 by autophagy contributes to CADM1 overexpression in ATLL cells through the activation of NF-kappaB.
      Title: Degradation of p47 by autophagy contributes to CADM1 overexpression in ATLL cells through the activation of NF-κB.
    4. p47 promotes, whereas SASK1 delays the degradation of a single ERAD substrate, alpha-TCR. Additionally, we found that SAKS1 selectively inhibits the degradation of ERAD substrates without affecting cytosolic proteasomal substrates.
      Title: The opposite role of two UBA-UBX containing proteins, p47 and SAKS1 in the degradation of a single ERAD substrate, α-TCR.
    5. The present results for the first time demonstrate that BDNF induces NADPH oxidase -derived reactive oxygen species generation through activation of p47 phox in a TrkB receptor-dependent manner
      Title: Brain-derived neurotrophic factor promotes angiogenic tube formation through generation of oxidative stress in human vascular endothelial cells.
    6. human p37/p47 and their C. elegans orthologue UBXN-2 regulate centrosome function in prophase by limiting the recruitment of Aurora A
      Title: The UBXN-2/p37/p47 adaptors of CDC-48/p97 regulate mitosis by limiting the centrosomal recruitment of Aurora A.
    7. The binding of p47 to polyubiquitinated NEMO triggers the lysosomal degradation of NEMO, thereby inhibiting IKK activation.
      Title: p47 negatively regulates IKK activation by inducing the lysosomal degradation of polyubiquitinated NEMO.
    8. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC3347, FLJ46889

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of mitotic spindle orientation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in membrane fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein localization to centrosome IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in nuclear membrane reassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of mitotic centrosome separation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi stack IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of VCP-NSFL1C complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of VCP-NSFL1C complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    NSFL1 cofactor p47
    Names
    NSFL1 (p97) cofactor (p47)
    SHP1 homolog
    UBX domain-containing protein 2C
    p97 cofactor p47

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001206736.2 → NP_001193665.1  NSFL1 cofactor p47 isoform d

      See identical proteins and their annotated locations for NP_001193665.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (d) that is longer than isoform a.
      Source sequence(s)
      AA948047, AF086909, AL109658, DB173022
      Consensus CDS
      CCDS56175.1
      UniProtKB/TrEMBL
      Q53FF5
      Related
      ENSP00000418529.1, ENST00000476071.5
      Conserved Domains (3) summary
      smart00553
      Location:180 → 272
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
      cd14348
      Location:7 → 45
      UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
      cd17162
      Location:291 → 372
      UBX_UBXN2C; Ubiquitin regulatory domain X (UBX) found in NSFL1 cofactor (also known as UBX domain-containing protein 2C (UBXN2C) and similar proteins

    2. NM_016143.5 → NP_057227.2  NSFL1 cofactor p47 isoform a

      See identical proteins and their annotated locations for NP_057227.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AA948047, AK315433, AL109658, DB173022
      Consensus CDS
      CCDS13015.1
      UniProtKB/Swiss-Prot
      A2A2L1, B2RD74, Q5JXA4, Q5JXA5, Q7Z533, Q9H102, Q9NVL9, Q9UI06, Q9UNZ2
      UniProtKB/TrEMBL
      Q53FE8
      Related
      ENSP00000216879.4, ENST00000216879.9
      Conserved Domains (3) summary
      smart00553
      Location:178 → 270
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
      cd14348
      Location:7 → 45
      UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
      cd17162
      Location:289 → 370
      UBX_UBXN2C; Ubiquitin regulatory domain X (UBX) found in NSFL1 cofactor (also known as UBX domain-containing protein 2C (UBXN2C) and similar proteins

    3. NM_018839.5 → NP_061327.2  NSFL1 cofactor p47 isoform b

      See identical proteins and their annotated locations for NP_061327.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AA948047, AK001511, AL109658, DB173022
      Consensus CDS
      CCDS13016.1
      UniProtKB/TrEMBL
      Q53FE8
      Related
      ENSP00000338643.2, ENST00000353088.6
      Conserved Domains (3) summary
      cd01770
      Location:261 → 339
      p47_UBX; p47-like ubiquitin domain
      smart00553
      Location:148 → 239
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
      cd14348
      Location:7 → 45
      UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins

    RNA

    1. NR_038164.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' region and uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA948047, AK297403, AL109658, DB173022
      Related
      ENST00000555944.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1442166..1466849 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723593.4 → XP_006723656.1  NSFL1 cofactor p47 isoform X9

      See identical proteins and their annotated locations for XP_006723656.1

      Conserved Domains (2) summary
      cd01770
      Location:183 → 261
      p47_UBX; p47-like ubiquitin domain
      smart00553
      Location:69 → 161
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47

    2. XM_011529301.3 → XP_011527603.1  NSFL1 cofactor p47 isoform X2

      UniProtKB/TrEMBL
      Q53FE8
      Conserved Domains (3) summary
      cd01770
      Location:295 → 373
      p47_UBX; p47-like ubiquitin domain
      smart00553
      Location:181 → 273
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
      cd14348
      Location:7 → 45
      UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins

    3. XM_011529300.3 → XP_011527602.1  NSFL1 cofactor p47 isoform X1

      UniProtKB/TrEMBL
      Q53FF5
      Conserved Domains (3) summary
      cd01770
      Location:297 → 375
      p47_UBX; p47-like ubiquitin domain
      smart00553
      Location:183 → 275
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
      cd14348
      Location:7 → 45
      UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins

    4. XM_047440307.1 → XP_047296263.1  NSFL1 cofactor p47 isoform X10

    5. XM_047440305.1 → XP_047296261.1  NSFL1 cofactor p47 isoform X9

    6. XM_047440303.1 → XP_047296259.1  NSFL1 cofactor p47 isoform X6

      UniProtKB/TrEMBL
      Q53FE8

    7. XM_047440302.1 → XP_047296258.1  NSFL1 cofactor p47 isoform X4

      UniProtKB/TrEMBL
      Q53FF5

    8. XM_047440306.1 → XP_047296262.1  NSFL1 cofactor p47 isoform X10

    9. XM_011529302.3 → XP_011527604.1  NSFL1 cofactor p47 isoform X3

      UniProtKB/TrEMBL
      Q53FF5
      Conserved Domains (2) summary
      cd01770
      Location:244 → 322
      p47_UBX; p47-like ubiquitin domain
      smart00553
      Location:130 → 222
      SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47

    10. XM_017027956.2 → XP_016883445.1  NSFL1 cofactor p47 isoform X5

      UniProtKB/TrEMBL
      Q53FE8

    11. XM_017027958.3 → XP_016883447.1  NSFL1 cofactor p47 isoform X7

    12. XM_047440304.1 → XP_047296260.1  NSFL1 cofactor p47 isoform X8

      UniProtKB/TrEMBL
      F2Z2K0
      Related
      ENSP00000434067.1, ENST00000381653.9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1491358..1516046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323718.1 → XP_054179693.1  NSFL1 cofactor p47 isoform X9

    2. XM_054323710.1 → XP_054179685.1  NSFL1 cofactor p47 isoform X2

      UniProtKB/TrEMBL
      Q53FE8

    3. XM_054323709.1 → XP_054179684.1  NSFL1 cofactor p47 isoform X1

      UniProtKB/TrEMBL
      Q53FF5

    4. XM_054323720.1 → XP_054179695.1  NSFL1 cofactor p47 isoform X10

    5. XM_054323717.1 → XP_054179692.1  NSFL1 cofactor p47 isoform X9

    6. XM_054323714.1 → XP_054179689.1  NSFL1 cofactor p47 isoform X6

      UniProtKB/TrEMBL
      Q53FE8

    7. XM_054323712.1 → XP_054179687.1  NSFL1 cofactor p47 isoform X4

      UniProtKB/TrEMBL
      Q53FF5

    8. XM_054323719.1 → XP_054179694.1  NSFL1 cofactor p47 isoform X10

    9. XM_054323711.1 → XP_054179686.1  NSFL1 cofactor p47 isoform X3

      UniProtKB/TrEMBL
      Q53FF5

    10. XM_054323713.1 → XP_054179688.1  NSFL1 cofactor p47 isoform X5

      UniProtKB/TrEMBL
      Q53FE8

    11. XM_054323715.1 → XP_054179690.1  NSFL1 cofactor p47 isoform X7

    12. XM_054323716.1 → XP_054179691.1  NSFL1 cofactor p47 isoform X8

      UniProtKB/TrEMBL
      F2Z2K0

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182483.1: Suppressed sequence

      Description
      NM_182483.1: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UNZ2.2 GenPept UniProtKB/Swiss-Prot:Q9UNZ2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous