1. Gene
  2. NSFL1C - NSFL1 cofactor Gene

NSFL1C - NSFL1 cofactor Gene

Homo sapiens

Also known as P47; UBX1; UBXD10; UBXN2C; dJ776F14.1

Gene ID: 55968 | Gene type: protein coding

About NSFL1C

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1,442,166-1,466,849 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues and 3 paralogues. Ubiquitous expression in adrenal (RPKM 11.4), brain (RPKM 10.1) and 25 other tissues.

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]

NSFL1C Products(3)

mRNA Protein Name
NM_001206736.2 NP_001193665.1 NSFL1 cofactor p47 isoform d
NM_016143.5 NP_057227.2 NSFL1 cofactor p47 isoform a
NM_018839.5 NP_061327.2 NSFL1 cofactor p47 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16169070 GOA
Biological Process GO Annotation Evidence Reference Source
involved in establishment of mitotic spindle orientation IGI
IGI: Inferred from genetic interaction
23649807 GOA
involved in negative regulation of protein localization to centrosome IGI
IGI: Inferred from genetic interaction
23649807 GOA
involved in positive regulation of mitotic centrosome separation IGI
IGI: Inferred from genetic interaction
23649807 GOA
Cellular Component GO Annotation Evidence Reference Source
part of VCP-NSFL1C complex IPI
IPI: Inferred from physical interaction
21645854 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSFL1C Protein Structure

UBA_4

UBA_4: UBA-like domain (6 - 47)

SEP

SEP: SEP domain (184 - 258)

UBX

UBX: UBX domain (291 - 368)

  • 0
  • 100
  • 200
  • 300
  • 370 a.a.
Protein Preferred Names Protein Names

NSFL1 cofactor p47

NSFL1 (p97) cofactor (p47)

NSFL1C Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 22466964
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 32814053
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 29997244
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 32814053
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 32814053
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 25416956
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072
Y2H
21900206
Intra
NSFL1C Q9UNZ2 VCP Homo sapiens P55072 33961781
Intra
NSFL1C Q9UNZ2 TARDBP Homo sapiens Q13148 16169070
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus NSFL1C MGD MGI:3042273
Canis familiaris NSFL1C VGNC VGNC:43984
Bos taurus NSFL1C VGNC VGNC:32275
Rattus norvegicus NSFL1C RGD RGD:619952
Macaca mulatta NSFL1C VGNC VGNC:75407
Felis catus NSFL1C VGNC VGNC:63887