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

    Gene ID: 221424, updated on 17-Jun-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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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