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NINJ1 ninjurin 1 [ Homo sapiens (human) ]

Gene ID: 4814, updated on 27-Nov-2024

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
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Genomic context

See NINJ1 in Genome Data Viewer
Location:
9q22.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (93121496..93134251, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105288107..105300864, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95883778..95896533, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95869787-95870287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95875683-95876631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95876632-95877579 Neighboring gene caspase recruitment domain family member 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95881665-95882481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95882482-95883297 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95887196-95887360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95888965-95889616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95893060-95893658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95893659-95894256 Neighboring gene uncharacterized LOC124902212 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95897247-95897843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95905234-95906106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95906107-95906979 Neighboring gene Sharpr-MPRA regulatory region 13679 Neighboring gene uncharacterized LOC124902213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95913665-95914165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95935533-95936106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95948459-95949424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95951526-95952459 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95955296-95955514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95964080-95965013 Neighboring gene WNK lysine deficient protein kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96000334-96000834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:96007029-96007528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:96025151-96025819 Neighboring gene uncharacterized LOC124902214

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 cellular hyperosmotic response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cytolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ferroptosis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heterotypic cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
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 necrotic cell death IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pyroptotic cell death IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of monocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
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

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.

mRNA and Protein(s)

  1. NM_004148.4NP_004139.2  ninjurin-1

    See identical proteins and their annotated locations for NP_004139.2

    Status: VALIDATED

    Source sequence(s)
    AL451065
    Consensus CDS
    CCDS6703.1
    UniProtKB/Swiss-Prot
    Q6GU89, Q8WUV5, Q92982, Q9BT07
    Related
    ENSP00000364595.4, ENST00000375446.5
    Conserved Domains (1) summary
    pfam04923
    Location:39139
    Ninjurin; Ninjurin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    93121496..93134251 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518716.2XP_011517018.1  ninjurin-1 isoform X1

    Conserved Domains (1) summary
    pfam04923
    Location:189
    Ninjurin; Ninjurin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    105288107..105300864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363008.1XP_054218983.1  ninjurin-1 isoform X1