NSFL1C NSFL1 cofactor [Homo sapiens (human)] - Gene

Summary

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
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80523 (e-PCR)
- UniSTS:86330

SGC44590 (e-PCR)
- UniSTS:30101

Z94488 (e-PCR)
- UniSTS:11692

WI-20603 (e-PCR)
- UniSTS:23761

D20S562E (e-PCR)
- UniSTS:61400

G20805 (e-PCR)
- UniSTS:27621

A006H16 (e-PCR)
- UniSTS:27622

D20S735 (e-PCR)
- UniSTS:39162

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)

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
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
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

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

1442166..1466849 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
XM_047440307.1 → XP_047296263.1 NSFL1 cofactor p47 isoform X10
XM_047440305.1 → XP_047296261.1 NSFL1 cofactor p47 isoform X9
XM_047440303.1 → XP_047296259.1 NSFL1 cofactor p47 isoform X6
XM_047440302.1 → XP_047296258.1 NSFL1 cofactor p47 isoform X4
XM_047440306.1 → XP_047296262.1 NSFL1 cofactor p47 isoform X10
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
XM_017027956.2 → XP_016883445.1 NSFL1 cofactor p47 isoform X5

UniProtKB/TrEMBL

Q53FE8
XM_017027958.3 → XP_016883447.1 NSFL1 cofactor p47 isoform X7
XM_047440304.1 → XP_047296260.1 NSFL1 cofactor p47 isoform X8

Related

ENSP00000434067.1, ENST00000381653.9

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

1491358..1516046 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323718.1 → XP_054179693.1 NSFL1 cofactor p47 isoform X9
XM_054323710.1 → XP_054179685.1 NSFL1 cofactor p47 isoform X2
XM_054323709.1 → XP_054179684.1 NSFL1 cofactor p47 isoform X1
XM_054323720.1 → XP_054179695.1 NSFL1 cofactor p47 isoform X10
XM_054323717.1 → XP_054179692.1 NSFL1 cofactor p47 isoform X9
XM_054323714.1 → XP_054179689.1 NSFL1 cofactor p47 isoform X6
XM_054323712.1 → XP_054179687.1 NSFL1 cofactor p47 isoform X4
XM_054323719.1 → XP_054179694.1 NSFL1 cofactor p47 isoform X10
XM_054323711.1 → XP_054179686.1 NSFL1 cofactor p47 isoform X3
XM_054323713.1 → XP_054179688.1 NSFL1 cofactor p47 isoform X5
XM_054323715.1 → XP_054179690.1 NSFL1 cofactor p47 isoform X7
XM_054323716.1 → XP_054179691.1 NSFL1 cofactor p47 isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.