NINJ1 ninjurin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NINJ1provided by HGNC
Official Full Name: ninjurin 1provided by HGNC
Primary source: HGNC:HGNC:7824
See related: Ensembl:ENSG00000131669 MIM:602062; AllianceGenome:HGNC:7824
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NIN1; hNINJ1; NINJURIN
Summary: The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]
Expression: Ubiquitous expression in bone marrow (RPKM 105.7), placenta (RPKM 42.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (93121496..93134251, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (105288107..105300864, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (95883778..95896533, complement)

Chromosome 9 - NC_000009.12 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?

Tomo-seq identifies NINJ1 as a potential target for anti-inflammatory strategy in thoracic aortic dissection.
Title: Tomo-seq identifies NINJ1 as a potential target for anti-inflammatory strategy in thoracic aortic dissection.
Calcium/P53/Ninjurin 1 Signaling Mediates Plasma Membrane Rupture of Acinar Cells in Severe Acute Pancreatitis.
Title: Calcium/P53/Ninjurin 1 Signaling Mediates Plasma Membrane Rupture of Acinar Cells in Severe Acute Pancreatitis.
Structural basis of NINJ1-mediated plasma membrane rupture in cell death.
Title: Structural basis of NINJ1-mediated plasma membrane rupture in cell death.
NINJ1 Regulates Platelet Activation and PANoptosis in Septic Disseminated Intravascular Coagulation.
Title: NINJ1 Regulates Platelet Activation and PANoptosis in Septic Disseminated Intravascular Coagulation.
Lower expression of NINJ1 (Ninjurin 1), a mediator of plasma membrane rupture, is associated with advanced disease and worse prognosis in serous ovarian cancer.
Title: Lower expression of NINJ1 (Ninjurin 1), a mediator of plasma membrane rupture, is associated with advanced disease and worse prognosis in serous ovarian cancer.
Glycine inhibits NINJ1 membrane clustering to suppress plasma membrane rupture in cell death.
Title: Glycine inhibits NINJ1 membrane clustering to suppress plasma membrane rupture in cell death.
NINJ1 triggers extravillous trophoblast cell dysfunction through blocking the STAT3 signaling pathway.
Title: NINJ1 triggers extravillous trophoblast cell dysfunction through blocking the STAT3 signaling pathway.
Ninjurin1 drives lung tumor formation and progression by potentiating Wnt/beta-Catenin signaling through Frizzled2-LRP6 assembly.
Title: Ninjurin1 drives lung tumor formation and progression by potentiating Wnt/β-Catenin signaling through Frizzled2-LRP6 assembly.
Elevated plasma Ninjurin-1 levels in atrial fibrillation is associated with atrial remodeling and thromboembolic risk.
Title: Elevated plasma Ninjurin-1 levels in atrial fibrillation is associated with atrial remodeling and thromboembolic risk.
NINJ1 mediates plasma membrane rupture during lytic cell death.
Title: NINJ1 mediates plasma membrane rupture during lytic cell death.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

EBI GWAS Catalog

Description
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G43535 (e-PCR)
- UniSTS:94992

RH41811 (e-PCR)
- UniSTS:52955

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell adhesion mediator activity	IDA Inferred from Direct Assay more info	PubMed
enables lipopolysaccharide binding	IDA Inferred from Direct Assay more info	PubMed
enables membrane destabilizing activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in heterotypic cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in killing of cells of another organism	IEA Inferred from Electronic Annotation more info
involved_in leukocyte chemotaxis involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of toll-like receptor 4 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in programmed cell death	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in tissue regeneration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ninjurin-1

Names: nerve injury-induced protein-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.