Gene Gene information from NCBI Gene database.
Entrez ID 8508
Gene name Nipsnap homolog 1
Gene symbol NIPSNAP1
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q12.2
Summary This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in m
miRNA miRNA information provided by mirtarbase database.
547
miRTarBase ID miRNA Experiments Reference
MIRT017041 hsa-miR-335-5p Microarray 18185580
MIRT021531 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT027473 hsa-miR-98-5p Microarray 19088304
MIRT1185759 hsa-miR-1182 CLIP-seq
MIRT1185760 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IDA 30982665
GO:0000423 Process Mitophagy IEA
GO:0005515 Function Protein binding IPI 20562859, 25126726, 34524948, 35271311
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603249 7827 ENSG00000184117
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BPW8
Protein name Protein NipSnap homolog 1 (NipSnap1)
Protein function Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria (PubMed:30982665). Accumulates on the mitochondria surface in response to mitochondrial depolarization and acts a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07978 NIPSNAP 185 282 NIPSNAP Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous (PubMed:9661659). Highest expression in liver (PubMed:9661659). {ECO:0000269|PubMed:9661659}.
Sequence
MAPRLCSISVTARRLLGGPGPRAGDVASAAAARFYSKDNEGSWFRSLFVHKVDPRKDAHS
TLLSKKETSNLYKIQFHNVKPEYLDAYNSLTEAVLPKLHLDEDYPCSLVGNWNTWYGEQD
QAVHLWRFSGGYPALMDCMNKLKNNKEYLEFRRERSQMLLSRRNQLLLEFSFWNEPQPRM
GPNIYELRTYKLKPGTMIEWGNNWARAIKYRQENQEAVGGFFSQIGELYVVHHLWAYKDL
QSREETRNAAWRKRGWDENVYYTVPLVRHMESRIMIPLKISP
LQ
Sequence length 284
Interactions View interactions
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS 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
Carcinoma Renal Cell Renal cell carcinoma Pubtator 40318378 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 23792589
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23792589
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 23792589
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 23792589 Associate
★☆☆☆☆
Found in Text Mining only