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NSFL1C NSFL1 cofactor [ Homo sapiens (human) ]

Gene ID: 55968, updated on 9-Dec-2018

Summary

Official Symbol
NSFL1Cprovided by HGNC
Official Full Name
NSFL1 cofactorprovided by HGNC
Primary source
HGNC:HGNC:15912
See related
Ensembl:ENSG00000088833 MIM:606610
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

Genomic context

See NSFL1C in Genome Data Viewer
Location:
20p13
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (1442162..1467793, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1422807..1448345, 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 uncharacterized LOC105372497 Neighboring gene microRNA 6869 Neighboring gene signal regulatory protein beta 2 Neighboring gene uncharacterized LOC105372499 Neighboring gene uncharacterized LOC105372498

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3347, FLJ46889

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment of mitotic spindle orientation IGI
Inferred from Genetic Interaction
more info
PubMed 
membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein localization to centrosome IGI
Inferred from Genetic Interaction
more info
PubMed 
nuclear envelope reassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of mitotic centrosome separation IGI
Inferred from Genetic Interaction
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
VCP-NSFL1C complex ISS
Inferred from Sequence or Structural Similarity
more info
 
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
spindle pole centrosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001206736.1NP_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, AK093845, AL109658, DB173022, DB202404
    Consensus CDS
    CCDS56175.1
    UniProtKB/Swiss-Prot
    Q9UNZ2
    UniProtKB/TrEMBL
    Q53FE8
    Related
    ENSP00000418529.1, ENST00000476071.5
    Conserved Domains (3) summary
    cd01770
    Location:294372
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:180272
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
    cd14348
    Location:745
    UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
  2. NM_016143.4NP_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, AK093845, AK315433, AL109658, DB173022, DB202404
    Consensus CDS
    CCDS13015.1
    UniProtKB/Swiss-Prot
    Q9UNZ2
    UniProtKB/TrEMBL
    Q53FE8
    Related
    ENSP00000216879.4, ENST00000216879.8
    Conserved Domains (3) summary
    cd01770
    Location:292370
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:178270
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
    cd14348
    Location:745
    UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
  3. NM_018839.4NP_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, AK093845, AL109658, DB173022, DB202404
    Consensus CDS
    CCDS13016.1
    UniProtKB/Swiss-Prot
    Q9UNZ2
    UniProtKB/TrEMBL
    Q53FE8
    Related
    ENSP00000338643.2, ENST00000353088.6
    Conserved Domains (3) summary
    cd01770
    Location:261339
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:148239
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
    cd14348
    Location:745
    UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins

RNA

  1. NR_038164.1 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, AK093845, AK297403, AL109658, DB173022, DB202404

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    1442162..1467793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723593.3XP_006723656.1  NSFL1 cofactor p47 isoform X8

    See identical proteins and their annotated locations for XP_006723656.1

    Conserved Domains (2) summary
    cd01770
    Location:183261
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:69161
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
  2. XM_006723594.3XP_006723657.1  NSFL1 cofactor p47 isoform X9

    See identical proteins and their annotated locations for XP_006723657.1

    UniProtKB/Swiss-Prot
    Q9UNZ2
    Conserved Domains (2) summary
    cd01770
    Location:181259
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:67159
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
  3. XM_006723592.3XP_006723655.1  NSFL1 cofactor p47 isoform X8

    See identical proteins and their annotated locations for XP_006723655.1

    Conserved Domains (2) summary
    cd01770
    Location:183261
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:69161
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
  4. XM_011529301.2XP_011527603.1  NSFL1 cofactor p47 isoform X2

    Conserved Domains (3) summary
    cd01770
    Location:295373
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:181273
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
    cd14348
    Location:745
    UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
  5. XM_011529300.2XP_011527602.1  NSFL1 cofactor p47 isoform X1

    Conserved Domains (3) summary
    cd01770
    Location:297375
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:183275
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
    cd14348
    Location:745
    UBA_p47; UBA-like domain found in NSFL1 cofactor p47 and similar proteins
  6. XM_017027957.2XP_016883446.1  NSFL1 cofactor p47 isoform X6

    Conserved Domains (2) summary
    cd01770
    Location:243321
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:129221
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
  7. XM_011529304.1XP_011527606.1  NSFL1 cofactor p47 isoform X5

    Conserved Domains (2) summary
    cd01770
    Location:241319
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:127219
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
  8. XM_011529302.2XP_011527604.1  NSFL1 cofactor p47 isoform X3

    Conserved Domains (2) summary
    cd01770
    Location:244322
    p47_UBX; p47-like ubiquitin domain
    smart00553
    Location:130222
    SEP; Domain present in Saccharomyces cerevisiae Shp1, Drosophila melanogaster eyes closed gene (eyc), and vertebrate p47
  9. XM_017027956.1XP_016883445.1  NSFL1 cofactor p47 isoform X4

  10. XM_017027958.2XP_016883447.1  NSFL1 cofactor p47 isoform X7

RNA

  1. XR_002958493.1 RNA Sequence

  2. XR_001754341.2 RNA Sequence

    Related
    ENST00000555944.5

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.
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