NIPSNAP1 - nipsnap homolog 1 Gene

Homo sapiens

Gene ID: 8508 | Gene type: protein coding

About NIPSNAP1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,554,808-29,581,113 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in liver (RPKM 78.8), kidney (RPKM 57.0) and 24 other tissues.

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 mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

NIPSNAP1 Products(2)

mRNA	Protein	Name
NM_001202502.2	NP_001189431.1	protein NipSnap homolog 1 isoform 2
NM_003634.4	NP_003625.2	protein NipSnap homolog 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20562859	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	30982665	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitophagy	IDA IDA: Inferred from direct assay	30982665	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in mitochondrial matrix	IDA IDA: Inferred from direct assay	30982665	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

NIPSNAP1 Protein Structure

NIPSNAP

0
100
200
284 a.a.

Protein Preferred Names

Protein Names

protein NipSnap homolog 1

4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1

Related Diseases

Diseases

Alias

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome	Spiegler-Brooke Syndrome
Familial Cylindromatosis	BRSS
Bss	Sbs
Multiple Familial Trichoepithelioma	Ancell-Spiegler Cylindromas
Familial Multiple Trichoepithelioma	Trichoepithelioma
Fc	Mft
Multiple Familial Trichoepitheliomas	Ccs
Turban Tumor Syndrome	Schilbach-Rott Syndrome
Eccrine Dermal Cylindroma	Familial Multiple Trichoepitheliomata

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09306	NIPSNAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NIPSNAP1	VGNC	VGNC:43820
Bos taurus	NIPSNAP1	VGNC	VGNC:32086
Felis catus	NIPSNAP1	VGNC	VGNC:68497
Rattus norvegicus	NIPSNAP1	RGD	RGD:1310419
Macaca mulatta	NIPSNAP1	VGNC	VGNC:97106
Mus musculus	NIPSNAP1	MGD	MGI:1278344

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