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NSFL1C NSFL1 cofactor [ Homo sapiens (human) ]

Gene ID: 55968, updated on 3-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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Preferred Names
NSFL1 cofactor p47
Names
NSFL1 (p97) cofactor (p47)
SHP1 homolog
UBX domain-containing protein 2C
p97 cofactor p47

NCBI Reference Sequences (RefSeq)

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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

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

  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

    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

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

  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

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

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

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

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

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

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

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

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