NIPSNAP1 nipsnap homolog 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NIPSNAP1provided by HGNC
Official Full Name: nipsnap homolog 1provided by HGNC
Primary source: HGNC:HGNC:7827
See related: Ensembl:ENSG00000184117 MIM:603249; AllianceGenome:HGNC:7827
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]
Expression: Ubiquitous expression in liver (RPKM 78.8), kidney (RPKM 57.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (29554808..29581113, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (30018168..30044476, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (29950797..29977102, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Tumorigenic Effect of lncRNA AFAP1-AS1 is Mediated by Translated Peptide ATMLP Under the Control of m[6] A Methylation.
Title: The Tumorigenic Effect of lncRNA AFAP1-AS1 is Mediated by Translated Peptide ATMLP Under the Control of m(6) A Methylation.
NIPSNAP1 and NIPSNAP2 have a redundant function in mitophagy and are predominantly expressed in different tissues.
Title: NIPSNAP1 and NIPSNAP2 Act as "Eat Me" Signals for Mitophagy.
identified mitochondrial proteins 4-nitrophenylphosphatase domain and non-neuronal synaptosomal associated protein 25-like protein homolog (NIP-SNAP)-1 and -2 as clarithromycin-binding proteins. Production of proinflammatory cytokines induced by lipopolysaccharides and Pam3-CSK4 in epithelial cell lines BEAS-2B and T24 were suppressed by knockdown of NIP-SNAP-1 or -2
Title: Mitochondrial proteins NIP-SNAP-1 and -2 are a target for the immunomodulatory activity of clarithromycin, which involves NF-κB-mediated cytokine production.
NIP-SNAP-1 and -2 localized in the mitochondrial inner membrane space, whereas HSP60 localized in the matrix. Expression levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of HSP60, but not HSP10. The findings indicate that HSP60 promotes folding and maintains the stability of NIP-SNAP-1 and -2.
Title: NIP-SNAP-1 and -2 mitochondrial proteins are maintained by heat shock protein 60.
These results suggest that changes in NIPSNAP1 expression may contribute to the pathogenesis of inflammatory pain.
Title: Involvement of NIPSNAP1, a neuropeptide nocistatin-interacting protein, in inflammatory pain.
Structural variants unique to the malignant cell line inactivated: gene NIPSNAP1, putative tumor suppressor that inhibits TRPV6, an anti-apoptotic oncogene implicated in prostate cancer progression.
Title: Chromosomal structural variations during progression of a prostate epithelial cell line to a malignant metastatic state inactivate the NF2, NIPSNAP1, UGT2B17, and LPIN2 genes.
NIPSNAP1 mutations could not explain phenotype of patients with combined oxidative phosphorylation system deficiencies.
Title: Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H24436 (e-PCR)
- UniSTS:70485

G54159 (e-PCR)
- UniSTS:109462

RH178 (e-PCR)
- UniSTS:92114

WI-15873 (e-PCR)
- UniSTS:30691

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of pain	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein NipSnap homolog 1

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

NCBI Reference Sequences (RefSeq)

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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_001202502.2 → 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)

AC005529, AK298816, BC006473

UniProtKB/TrEMBL

B4DQI7

Conserved Domains (1) summary

pfam07978
Location:165 → 262

NIPSNAP; NIPSNAP
NM_003634.4 → NP_003625.2 protein NipSnap homolog 1 isoform 1

See identical proteins and their annotated locations for NP_003625.2

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

B2RAY3, O43800, Q9BPW8

UniProtKB/TrEMBL

A8K4I8

Related

ENSP00000216121.7, ENST00000216121.12

Conserved Domains (1) summary

pfam07978
Location:185 → 282

NIPSNAP; NIPSNAP