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

Gene ID: 57554, updated on 10-Nov-2018

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; Vega:OTTHUMG00000059194
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:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (69567130..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 leucine rich repeat containing 40 Neighboring gene RNA, 7SL, cytoplasmic 242, pseudogene Neighboring gene serine and arginine rich splicing factor 11

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 Jun 15 11:32:44 2016

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
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 
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 
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_001330635.1NP_001317564.1  leucine-rich repeat-containing protein 7 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL157948, AL158840, 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_001350216.1NP_001337145.1  leucine-rich repeat-containing protein 7 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AF434715, AF498274, AL158840, AL359894, CR749629
    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_001366836.1NP_001353765.1  leucine-rich repeat-containing protein 7 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AF498274, AL359894
    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_001366837.1NP_001353766.1  leucine-rich repeat-containing protein 7 isoform 5

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
  6. NM_001366839.1NP_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]

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.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    69567130..70152426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001890.1XP_016857379.1  leucine-rich repeat-containing protein 7 isoform X6

    Conserved Domains (4) summary
    COG4886
    Location:130440
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00992
    Location:14381523
    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:6485
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:84140
    LRR_8; Leucine rich repeat
  2. XM_017001894.1XP_016857383.1  leucine-rich repeat-containing protein 7 isoform X8

    Conserved Domains (3) summary
    COG4886
    Location:97407
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:3152
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:51107
    LRR_8; Leucine rich repeat
  3. XM_017001895.1XP_016857384.1  leucine-rich repeat-containing protein 7 isoform X9

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

  5. 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
  6. 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
  7. 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
  8. 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
  9. 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.
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