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

Gene ID: 57554, updated on 6-Nov-2022

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; AllianceGenome:HGNC:18531
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
Summary
Predicted to be involved in several processes, including establishment or maintenance of epithelial cell apical/basal polarity; positive regulation of neuron projection development; and receptor clustering. Located in several cellular components, including centrosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 2.3), testis (RPKM 0.6) and 2 other tissues See more
Orthologs
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Genomic context

See LRRC7 in Genome Data Viewer
Location:
1p31.1
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (69567922..70144364)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (69444558..70022853)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (70033605..70610047)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378789 Neighboring gene long intergenic non-protein coding RNA 1758 Neighboring gene shugoshin 1 pseudogene 1 Neighboring gene uncharacterized LOC124904199 Neighboring gene RNA, 7SL, cytoplasmic 538, pseudogene Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 Neighboring gene LRRC7 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 9273 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in embryo development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in receptor localization to synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in axon initial segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in specific granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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

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_001330635.3NP_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_001350216.3NP_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_001366836.3NP_001353765.1  leucine-rich repeat-containing protein 7 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL359412, AL359894, AL391728
    Consensus CDS
    CCDS90974.1
    UniProtKB/TrEMBL
    B1AKT2
    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_001366837.3NP_001353766.1  leucine-rich repeat-containing protein 7 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL359412, AL359894, AL391728
    Conserved Domains (2) summary
    COG4886
    Location:29184
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:3152
    LRR_RI; leucine-rich repeat [structural motif]
  5. NM_001366838.3NP_001353767.1  leucine-rich repeat-containing protein 7 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
    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
  6. NM_001366839.3NP_001353768.1  leucine-rich repeat-containing protein 7 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
    Conserved Domains (4) summary
    COG4886
    Location:97407
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00992
    Location:13451430
    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
  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
    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
  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_001370785.2NP_001357714.1  leucine-rich repeat-containing protein 7 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL117353, AL157948, AL158840, AL353771, AL359412, AL359894, AL391728
    Consensus CDS
    CCDS90975.1
    UniProtKB/TrEMBL
    A0A494C1A4
    Related
    ENSP00000498937.2, ENST00000651989.2
    Conserved Domains (4) summary
    COG4886
    Location:130440
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00992
    Location:14851570
    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:85140
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    69567922..70144364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    69444558..70022853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.