Human Gene NSFL1C (ENST00000216879.9_8) from GENCODE V47lift37
  Description: NSFL1 cofactor, transcript variant 1 (from RefSeq NM_016143.5)
Gencode Transcript: ENST00000216879.9_8
Gencode Gene: ENSG00000088833.18_11
Transcript (Including UTRs)
   Position: hg19 chr20:1,422,811-1,447,494 Size: 24,684 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr20:1,424,394-1,447,469 Size: 23,076 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:1,422,811-1,447,494)mRNA (may differ from genome)Protein (370 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NSF1C_HUMAN
DESCRIPTION: RecName: Full=NSFL1 cofactor p47; AltName: Full=UBX domain-containing protein 2C; AltName: Full=p97 cofactor p47;
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).
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).
SUBCELLULAR LOCATION: 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).
PTM: Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the fragmentation of the Golgi stacks during mitosis (By similarity).
SIMILARITY: Belongs to the NSFL1C family.
SIMILARITY: Contains 1 SEP domain.
SIMILARITY: Contains 1 UBX domain.
SEQUENCE CAUTION: Sequence=AAF17199.1; Type=Frameshift; Positions=Several; Sequence=AAF17199.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.80 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 745.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.7025-0.228 Picture PostScript Text
3' UTR -504.801583-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012989 - SEP_domain
IPR009060 - UBA-like
IPR001012 - UBX

Pfam Domains:
PF00789 - UBX domain
PF08059 - SEP domain
PF14555 - UBA-like domain

SCOP Domains:
46934 - UBA-like
54236 - Ubiquitin-like
102848 - NSFL1 (p97 ATPase) cofactor p47, SEP domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SS6 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9UNZ2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0019888 protein phosphatase regulator activity
GO:0043130 ubiquitin binding
GO:0051117 ATPase binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0000132 establishment of mitotic spindle orientation
GO:0007030 Golgi organization
GO:0031468 nuclear envelope reassembly
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0046604 positive regulation of mitotic centrosome separation
GO:0061025 membrane fusion
GO:1904780 negative regulation of protein localization to centrosome

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0031616 spindle pole centrosome
GO:0045111 intermediate filament cytoskeleton
GO:1990730 VCP-NSFL1C complex


-  Descriptions from all associated GenBank mRNAs
  AK001511 - Homo sapiens cDNA FLJ10649 fis, clone NT2RP2005835, weakly similar to SHP1 PROTEIN.
AF086909 - Homo sapiens p47 mRNA, complete cds.
AF112211 - Homo sapiens p47 protein mRNA, complete cds.
LF205950 - JP 2014500723-A/13453: Polycomb-Associated Non-Coding RNAs.
AK223341 - Homo sapiens mRNA for p47 protein isoform a variant, clone: TST04907.
AF283774 - Homo sapiens clone TCBAP0932 mRNA sequence.
BC002801 - Homo sapiens NSFL1 (p97) cofactor (p47), mRNA (cDNA clone MGC:3347 IMAGE:3635947), complete cds.
AK093845 - Homo sapiens cDNA FLJ36526 fis, clone TRACH2003347, highly similar to NSFL1 cofactor p47.
AF078856 - Homo sapiens p47 mRNA, complete cds.
AK223334 - Homo sapiens mRNA for p47 protein isoform a variant, clone: TST01829.
AK297403 - Homo sapiens cDNA FLJ55103 complete cds, highly similar to NSFL1 cofactor p47.
AK315433 - Homo sapiens cDNA, FLJ96489, Homo sapiens likely ortholog of rat p47 (p47), mRNA.
DQ893189 - Synthetic construct clone IMAGE:100005819; FLH195043.01X; RZPDo839H1080D NSFL1 (p97) cofactor (p47) (NSFL1C) gene, encodes complete protein.
KJ894293 - Synthetic construct Homo sapiens clone ccsbBroadEn_03687 NSFL1C gene, encodes complete protein.
DQ896513 - Synthetic construct Homo sapiens clone IMAGE:100010973; FLH195039.01L; RZPDo839H1070D NSFL1 (p97) cofactor (p47) (NSFL1C) gene, encodes complete protein.
AB590363 - Synthetic construct DNA, clone: pFN21AE1367, Homo sapiens NSFL1C gene for NSFL1 (p97) cofactor, without stop codon, in Flexi system.
CU678204 - Synthetic construct Homo sapiens gateway clone IMAGE:100019113 5' read NSFL1C mRNA.
MA441527 - JP 2018138019-A/13453: Polycomb-Associated Non-Coding RNAs.
AK128722 - Homo sapiens cDNA FLJ46889 fis, clone UTERU3017995, highly similar to Homo sapiens likely ortholog of rat p47 (p47).
JD411340 - Sequence 392364 from Patent EP1572962.
JD553220 - Sequence 534244 from Patent EP1572962.
JD300247 - Sequence 281271 from Patent EP1572962.
JD466543 - Sequence 447567 from Patent EP1572962.
JD099358 - Sequence 80382 from Patent EP1572962.
JD364921 - Sequence 345945 from Patent EP1572962.
JD282158 - Sequence 263182 from Patent EP1572962.
JD292170 - Sequence 273194 from Patent EP1572962.
JD235958 - Sequence 216982 from Patent EP1572962.
JD490668 - Sequence 471692 from Patent EP1572962.
JD079811 - Sequence 60835 from Patent EP1572962.
JD345857 - Sequence 326881 from Patent EP1572962.
JD296272 - Sequence 277296 from Patent EP1572962.
JD247253 - Sequence 228277 from Patent EP1572962.
JD426489 - Sequence 407513 from Patent EP1572962.
JD526364 - Sequence 507388 from Patent EP1572962.
JD218830 - Sequence 199854 from Patent EP1572962.
JD094312 - Sequence 75336 from Patent EP1572962.
JD464206 - Sequence 445230 from Patent EP1572962.
JD482462 - Sequence 463486 from Patent EP1572962.
JD226159 - Sequence 207183 from Patent EP1572962.
JD104044 - Sequence 85068 from Patent EP1572962.
JD037504 - Sequence 18528 from Patent EP1572962.
JD114956 - Sequence 95980 from Patent EP1572962.
JD471115 - Sequence 452139 from Patent EP1572962.
JD284004 - Sequence 265028 from Patent EP1572962.
LF350071 - JP 2014500723-A/157574: Polycomb-Associated Non-Coding RNAs.
AK023585 - Homo sapiens cDNA FLJ13523 fis, clone PLACE1005968.
JD370725 - Sequence 351749 from Patent EP1572962.
JD320873 - Sequence 301897 from Patent EP1572962.
JD351643 - Sequence 332667 from Patent EP1572962.
LF350070 - JP 2014500723-A/157573: Polycomb-Associated Non-Coding RNAs.
JD256234 - Sequence 237258 from Patent EP1572962.
JD334719 - Sequence 315743 from Patent EP1572962.
JD405589 - Sequence 386613 from Patent EP1572962.
LF350069 - JP 2014500723-A/157572: Polycomb-Associated Non-Coding RNAs.
LF350068 - JP 2014500723-A/157571: Polycomb-Associated Non-Coding RNAs.
LF350066 - JP 2014500723-A/157569: Polycomb-Associated Non-Coding RNAs.
LF350064 - JP 2014500723-A/157567: Polycomb-Associated Non-Coding RNAs.
MA585648 - JP 2018138019-A/157574: Polycomb-Associated Non-Coding RNAs.
MA585647 - JP 2018138019-A/157573: Polycomb-Associated Non-Coding RNAs.
MA585646 - JP 2018138019-A/157572: Polycomb-Associated Non-Coding RNAs.
MA585645 - JP 2018138019-A/157571: Polycomb-Associated Non-Coding RNAs.
MA585643 - JP 2018138019-A/157569: Polycomb-Associated Non-Coding RNAs.
MA585641 - JP 2018138019-A/157567: Polycomb-Associated Non-Coding RNAs.
LF350055 - JP 2014500723-A/157558: Polycomb-Associated Non-Coding RNAs.
LF371416 - JP 2014500723-A/178919: Polycomb-Associated Non-Coding RNAs.
LF371599 - JP 2014500723-A/179102: Polycomb-Associated Non-Coding RNAs.
LF350054 - JP 2014500723-A/157557: Polycomb-Associated Non-Coding RNAs.
LF372610 - JP 2014500723-A/180113: Polycomb-Associated Non-Coding RNAs.
MA585632 - JP 2018138019-A/157558: Polycomb-Associated Non-Coding RNAs.
MA606993 - JP 2018138019-A/178919: Polycomb-Associated Non-Coding RNAs.
MA607176 - JP 2018138019-A/179102: Polycomb-Associated Non-Coding RNAs.
MA585631 - JP 2018138019-A/157557: Polycomb-Associated Non-Coding RNAs.
MA608187 - JP 2018138019-A/180113: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A2A2L1, B2RD74, ENST00000216879.1, ENST00000216879.2, ENST00000216879.3, ENST00000216879.4, ENST00000216879.5, ENST00000216879.6, ENST00000216879.7, ENST00000216879.8, NM_016143, NSF1C_HUMAN, Q5JXA4, Q5JXA5, Q7Z533, Q9H102, Q9NVL9, Q9UI06, Q9UNZ2, UBXN2C, uc317csi.1, uc317csi.2
UCSC ID: ENST00000216879.9_8
RefSeq Accession: NM_016143.5
Protein: Q9UNZ2 (aka NSF1C_HUMAN or NF1C_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.