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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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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