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LRRC20 leucine rich repeat containing 20 [ Homo sapiens (human) ]

Gene ID: 55222, updated on 22-Aug-2020

Summary

Official Symbol
LRRC20provided by HGNC
Official Full Name
leucine rich repeat containing 20provided by HGNC
Primary source
HGNC:HGNC:23421
See related
Ensembl:ENSG00000172731
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
Expression
Broad expression in heart (RPKM 6.7), esophagus (RPKM 4.5) and 24 other tissues See more
Orthologs

Genomic context

See LRRC20 in Genome Data Viewer
Location:
10q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (70298975..70382625, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72058726..72142406, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inorganic pyrophosphatase 1 Neighboring gene neuropeptide FF receptor 1 Neighboring gene centrosomal protein 57 like 1 pseudogene 1 Neighboring gene eukaryotic translation initiation factor 4E binding protein 2

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

Associated conditions

Description Tests
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10751, FLJ10844

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
leucine-rich repeat-containing protein 20

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_001278211.2NP_001265140.1  leucine-rich repeat-containing protein 20 isoform 1

    See identical proteins and their annotated locations for NP_001265140.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 4, and 5 all encode the same isoform (1).
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS7302.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZM2
    Related
    ENSP00000362321.1, ENST00000373224.5
    Conserved Domains (3) summary
    sd00031
    Location:7698
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:2647
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:7184
    NEL; C-terminal novel E3 ligase, LRR-interacting
  2. NM_001278212.2NP_001265141.1  leucine-rich repeat-containing protein 20 isoform 1

    See identical proteins and their annotated locations for NP_001265141.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 4, and 5 all encode the same isoform (1).
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS7302.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZM2
    Related
    ENSP00000413745.1, ENST00000446961.3
    Conserved Domains (3) summary
    sd00031
    Location:7698
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:2647
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:7184
    NEL; C-terminal novel E3 ligase, LRR-interacting
  3. NM_001278213.2NP_001265142.1  leucine-rich repeat-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001265142.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 6 both encode the same isoform (2).
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS7301.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZL5
    Related
    ENSP00000378458.1, ENST00000395011.5
    Conserved Domains (2) summary
    sd00031
    Location:2848
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:48106
    LRR_8; Leucine rich repeat
  4. NM_001278214.2NP_001265143.1  leucine-rich repeat-containing protein 20 isoform 4

    See identical proteins and their annotated locations for NP_001265143.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks the exon containing the translation start codon compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS73145.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A0A0MS58
    Related
    ENSP00000378457.2, ENST00000395010.5
    Conserved Domains (2) summary
    sd00031
    Location:729
    LRR_1; leucine-rich repeat [structural motif]
    cl26793
    Location:2091
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
  5. NM_018205.4NP_060675.1  leucine-rich repeat-containing protein 20 isoform 3

    See identical proteins and their annotated locations for NP_060675.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS7300.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZR0
    Related
    ENSP00000350255.2, ENST00000357631.6
  6. NM_018239.4NP_060709.2  leucine-rich repeat-containing protein 20 isoform 2

    See identical proteins and their annotated locations for NP_060709.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 6 both encode the same isoform (2).
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS7301.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZL5
    Related
    ENSP00000350860.2, ENST00000358141.6
    Conserved Domains (2) summary
    sd00031
    Location:2848
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:48106
    LRR_8; Leucine rich repeat
  7. NM_207119.3NP_997002.1  leucine-rich repeat-containing protein 20 isoform 1

    See identical proteins and their annotated locations for NP_997002.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 4, and 5 all encode the same isoform (1).
    Source sequence(s)
    AC022532, AL355138
    Consensus CDS
    CCDS7302.1
    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZM2
    Related
    ENSP00000348043.4, ENST00000355790.8
    Conserved Domains (3) summary
    sd00031
    Location:7698
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:2647
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:7184
    NEL; C-terminal novel E3 ligase, LRR-interacting

RNA

  1. NR_103467.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks the exon containing the translation start codon, and lacks an alternate in-frame exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC022532, AL355138
  2. NR_103468.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, lacks the exon containing the translation start codon, and lacks an alternate in-frame exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC022532, AL355138

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    70298975..70382625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016375.1XP_016871864.1  leucine-rich repeat-containing protein 20 isoform X1

    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZM2
    Conserved Domains (3) summary
    sd00031
    Location:7698
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:2647
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:7184
    NEL; C-terminal novel E3 ligase, LRR-interacting
  2. XM_017016374.1XP_016871863.1  leucine-rich repeat-containing protein 20 isoform X1

    UniProtKB/Swiss-Prot
    Q8TCA0
    UniProtKB/TrEMBL
    A0A024QZM2
    Conserved Domains (3) summary
    sd00031
    Location:7698
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:2647
    LRR_RI; leucine-rich repeat [structural motif]
    cl26018
    Location:7184
    NEL; C-terminal novel E3 ligase, LRR-interacting
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