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LRRC73 leucine rich repeat containing 73 [ Homo sapiens (human) ]

Gene ID: 221424, updated on 5-Mar-2024

Summary

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Official Symbol
LRRC73provided by HGNC
Official Full Name
leucine rich repeat containing 73provided by HGNC
Primary source
HGNC:HGNC:21375
See related
Ensembl:ENSG00000204052 AllianceGenome:HGNC:21375
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
C6orf154
Expression
Biased expression in testis (RPKM 12.8), brain (RPKM 2.3) and 2 other tissues See more
Orthologs
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Genomic context

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See LRRC73 in Genome Data Viewer
Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43506968..43510346, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43335707..43339085, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43474706..43478084, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43445658-43446451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43457381-43457974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43457975-43458569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17232 Neighboring gene RNA, U6 small nuclear 1113, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24602 Neighboring gene MPRA-validated peak5815 silencer Neighboring gene tight junction associated protein 1 Neighboring gene RNA polymerase I and III subunit C Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene Yip1 domain family member 3 Neighboring gene exportin 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
  2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44836, MGC131686

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
leucine-rich repeat-containing protein 73

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_001012974.4 → NP_001012992.1  leucine-rich repeat-containing protein 73 isoform 1

    See identical proteins and their annotated locations for NP_001012992.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL355802
    Consensus CDS
    CCDS34456.1
    UniProtKB/Swiss-Prot
    Q5JTD7
    Related
    ENSP00000361518.1, ENST00000372441.2
    Conserved Domains (2) summary
    sd00033
    Location:58 → 86
    LRR_RI; leucine-rich repeat [structural motif]
    cl39015
    Location:5 → 255
    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 ...

  2. NM_001271882.2 → NP_001258811.1  leucine-rich repeat-containing protein 73 isoform 2

    See identical proteins and their annotated locations for NP_001258811.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an downstream in-frame start site, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL355802, BC107130, BC108661, HY024930
    UniProtKB/TrEMBL
    Q3B825
    Conserved Domains (1) summary
    cl39015
    Location:19 → 132
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    43506968..43510346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    43335707..43339085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JTD7.1 GenPept UniProtKB/Swiss-Prot:Q5JTD7

Gene LinkOut

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