NIPSNAP1 nipsnap homolog 1 (C. elegans) [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: NIPSNAP1provided by HGNC
Official Full Name: nipsnap homolog 1 (C. elegans)provided by HGNC
Primary source: HGNC:7827
See related: Ensembl:ENSG00000184117; HPRD:10342; MIM:603249; Vega:OTTHUMG00000151294
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
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]

Help top of page

Genomic context

Location :: 22q12.2

Sequence :: Chromosome: 22; NC_000022.10 (29950797..29977326, complement)

See NIPSNAP1 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

NIPSNAP1 is an interacting molecule of NST and plays a crucial role in pain transmission.
Title: Identification of NIPSNAP1 as a nocistatin-interacting protein involving pain transmission.
This study presents the first physiological function of mouse Nipsnap1 as an associated protein inhibiting transient receptor potential vanilloid channel 6 activity that possibly exerts its effect directly at the plasma membrane.
Title: Identification of Nipsnap1 as a novel auxiliary protein inhibiting TRPV6 activity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
Q9BPW8	P41220	RGS2	HPRD	PubMed
Q9BPW8	Q9HA65	TBC1D17	HPRD	PubMed
BioGRID:114080	BioGRID:107990	DBI	BioGRID	PubMed	Two-hybrid
BioGRID:114080	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:117223	GABARAPL1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:116473	GABARAPL2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:108901	GBAS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:124137	MAP1LC3A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:123565	MAP1LC3B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:111570	PRKCI	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:111929	RGS2	BioGRID	PubMed	Two-hybrid
BioGRID:114080	BioGRID:114397	SQSTM1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114080	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Component	Evidence Code	Pubs
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: protein NipSnap homolog 1

Names: protein NipSnap homolog 1; 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1

Help top of page

NCBI Reference Sequences (RefSeq)

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_001202502.1 → NP_001189431.1 protein NipSnap homolog 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK298816, BC006473

UniProtKB/TrEMBL

B4DQI7

UniProtKB/Swiss-Prot

Q9BPW8

Conserved Domains (1) summary

pfam07978
Location:165 – 262
Blast Score: 309

NIPSNAP; NIPSNAP
NM_003634.3 → NP_003625.2 protein NipSnap homolog 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC005529, BC006473

Consensus CDS

CCDS13860.1

UniProtKB/Swiss-Prot

Q9BPW8

Related

ENSP00000216121, OTTHUMP00000199702, ENST00000216121, OTTHUMT00000322117

Conserved Domains (1) summary

pfam07978
Location:185 – 282
Blast Score: 310

NIPSNAP; NIPSNAP

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p5 Primary Assembly

Range

29950797..29977326, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

12914568..12940820, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005529.7 (82707..109235)	None
genomic	CH471095.1	EAW59813.1
mRNA	AJ001258.1	CAA04632.1
mRNA	AK098367.1	None
mRNA	AK290953.1	BAF83642.1
mRNA	AK298816.1	BAG60949.1
mRNA	AK314407.1	BAG37030.1
mRNA	BC002371.2	AAH02371.1
mRNA	BC006473.1	AAH06473.1
mRNA	BC018869.2	None
mRNA	DA133702.1	None