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    LRRC7 leucine rich repeat containing 7 [ Homo sapiens (human) ]

    Gene ID: 57554, updated on 8-Jul-2019

    Summary

    Official Symbol
    LRRC7provided by HGNC
    Official Full Name
    leucine rich repeat containing 7provided by HGNC
    Primary source
    HGNC:HGNC:18531
    See related
    Ensembl:ENSG00000033122 MIM:614453
    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
    DENSIN
    Expression
    Biased expression in brain (RPKM 2.3), testis (RPKM 0.6) and 2 other tissues See more
    Orthologs

    Genomic context

    See LRRC7 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (69567334..70152426)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (70033230..70589171)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378789 Neighboring gene uncharacterized LOC105378790 Neighboring gene shugoshin 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 538, pseudogene Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 Neighboring gene uncharacterized LOC105378792 Neighboring gene Sharpr-MPRA regulatory region 3760 Neighboring gene leucine rich repeat containing 40 Neighboring gene RNA, 7SL, cytoplasmic 242, pseudogene

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
    NHGRI GWA Catalog
    Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study.
    NHGRI GWA Catalog
    Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
    NHGRI GWA Catalog
    Genome-wide association study of the child behavior checklist dysregulation profile.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1365, MGC144918, DKFZp686I1147

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ionotropic glutamate receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    establishment or maintenance of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurotransmitter receptor transport postsynaptic membrane to endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor localization to synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of NMDA receptor activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    axon initial segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    colocalizes_with ionotropic glutamate receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    leucine-rich repeat-containing protein 7
    Names
    densin-180

    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)

    1. NM_001330635.2NP_001317564.1  leucine-rich repeat-containing protein 7 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
      Consensus CDS
      CCDS81341.1
      UniProtKB/TrEMBL
      A0A075B6E9
      Related
      ENSP00000309245.4, ENST00000310961.9
      Conserved Domains (4) summary
      COG4886
      Location:97407
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00992
      Location:14051490
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      sd00033
      Location:3152
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:51107
      LRR_8; Leucine rich repeat
    2. NM_001350216.2NP_001337145.1  leucine-rich repeat-containing protein 7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
      Conserved Domains (3) summary
      COG4886
      Location:131441
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6586
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:85141
      LRR_8; Leucine rich repeat
    3. NM_001366836.2NP_001353765.1  leucine-rich repeat-containing protein 7 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL359412, AL359894, AL391728
      Related
      ENSP00000359997.1, ENST00000370958.5
      Conserved Domains (2) summary
      COG4886
      Location:62217
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6485
      LRR_RI; leucine-rich repeat [structural motif]
    4. NM_001366837.2NP_001353766.1  leucine-rich repeat-containing protein 7 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL359412, AL359894, AL391728
    5. NM_001366838.2NP_001353767.1  leucine-rich repeat-containing protein 7 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
    6. NM_001366839.2NP_001353768.1  leucine-rich repeat-containing protein 7 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
    7. NM_001366840.1NP_001353769.1  leucine-rich repeat-containing protein 7 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL359412, AL359894, AL391728
      Conserved Domains (2) summary
      COG4886
      Location:63218
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:6586
      LRR_RI; leucine-rich repeat [structural motif]
    8. NM_001366841.1NP_001353770.1  leucine-rich repeat-containing protein 7 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
    9. NM_001366842.1NP_001353771.1  leucine-rich repeat-containing protein 7 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL359412, AL359894, AL391728
      Conserved Domains (2) summary
      COG4886
      Location:81236
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:83104
      LRR_RI; leucine-rich repeat [structural motif]
    10. NM_001370785.1NP_001357714.1  leucine-rich repeat-containing protein 7 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
      Related
      ENSP00000498937.1, ENST00000651989.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      69567334..70152426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001895.1XP_016857384.1  leucine-rich repeat-containing protein 7 isoform X9

    2. XM_017001886.1XP_016857375.1  leucine-rich repeat-containing protein 7 isoform X2

    3. XM_017001885.1XP_016857374.1  leucine-rich repeat-containing protein 7 isoform X1

      Conserved Domains (4) summary
      cd00116
      Location:218458
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd00992
      Location:15041589
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      sd00033
      Location:83104
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:196251
      LRR_8; Leucine rich repeat
    4. XM_017001889.1XP_016857378.1  leucine-rich repeat-containing protein 7 isoform X5

      Conserved Domains (3) summary
      cd00116
      Location:218458
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:83104
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:196251
      LRR_8; Leucine rich repeat
    5. XM_017001887.1XP_016857376.1  leucine-rich repeat-containing protein 7 isoform X3

      Conserved Domains (4) summary
      cd00116
      Location:218458
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd00992
      Location:14571542
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      sd00033
      Location:83104
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:196251
      LRR_8; Leucine rich repeat
    6. XM_017001892.1XP_016857381.1  leucine-rich repeat-containing protein 7 isoform X7

      Conserved Domains (3) summary
      COG4886
      Location:149459
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:83104
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:103159
      LRR_8; Leucine rich repeat
    7. XM_017001888.1XP_016857377.1  leucine-rich repeat-containing protein 7 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020794.2: Suppressed sequence

      Description
      NM_020794.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Support Center