Gene Gene information from NCBI Gene database.
Entrez ID 55968
Gene name NSFL1 cofactor
Gene symbol NSFL1C
Synonyms (NCBI Gene)
P47UBX1UBXD10UBXN2CdJ776F14.1
Chromosome 20
Chromosome location 20p13
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 h
miRNA miRNA information provided by mirtarbase database.
130
miRTarBase ID miRNA Experiments Reference
MIRT019752 hsa-miR-375 Microarray 20215506
MIRT021624 hsa-miR-142-3p Microarray 17612493
MIRT049768 hsa-miR-92a-3p CLASH 23622248
MIRT044711 hsa-miR-320a CLASH 23622248
MIRT042168 hsa-miR-484 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SPI1 Unknown 10542290
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000132 Process Establishment of mitotic spindle orientation IEA
GO:0000132 Process Establishment of mitotic spindle orientation IGI 23649807
GO:0005515 Function Protein binding IPI 16169070, 16275660, 20414249, 21645854, 21900206, 22466964, 25416956, 26496610, 26712280, 29997244, 32814053, 33961781, 35271311, 37776851
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606610 15912 ENSG00000088833
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UNZ2
Protein name NSFL1 cofactor p47 (UBX domain-containing protein 2C) (p97 cofactor p47)
Protein function Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transi
PDB 1SS6 , 8HRZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14555 UBA_4 6 48 Domain
PF08059 SEP 184 258 SEP domain Domain
PF00789 UBX 290 369 UBX domain Domain
Sequence
MAAERQEALREFVAVTGAEEDRARFFLESAGWDLQIALASFYEDGGDEDIVTISQATPSS
VSRGTAPSDNRVTSFRDLIHDQDEDEEEEEGQRFYAGGSERSGQQIVGPPRKKSPNELVD
DLFKGAKEHGAVAVERVTKSPGETSKPRPFAGGGYRLGAAPEEESAYVAGEKRQHSSQDV
HVVLKLWKSGFSLDNGELRSYQDPSNAQFLESIRRGEVPAELRRLAHGGQVNLDMEDHRD
EDFVKPKGAFKAFTGEGQ
KLGSTAPQVLSTSSPAQQAENEAKASSSILIDESEPTTNIQI
RLADGGRLVQKFNHSHRISDIRLFIVDARPAMAATSFILMTTFPNKELADESQTLKEANL
LNAVIVQRL
T
Sequence length 370
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Protein processing in endoplasmic reticulum  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 30837480
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 23884469
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17855441 Associate
★☆☆☆☆
Found in Text Mining only
Chronic granulomatous disease Granulomatous Disease BEFREE 15527168, 2398896
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 15626894
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 28105508
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 19175688 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 28105508
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes BEFREE 30559180
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 15626894
★☆☆☆☆
Found in Text Mining only