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    LRRC57 leucine rich repeat containing 57 [ Homo sapiens (human) ]

    Gene ID: 255252, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LRRC57provided by HGNC
    Official Full Name
    leucine rich repeat containing 57provided by HGNC
    Primary source
    HGNC:HGNC:26719
    See related
    Ensembl:ENSG00000180979 AllianceGenome:HGNC:26719
    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
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.0), placenta (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC57 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (42528327..42548793, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (40334371..40354843, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (42830027..42840991, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene calpain 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42676684-42677239 Neighboring gene uncharacterized LOC105370794 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:42677734-42678933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9300 Neighboring gene zinc finger protein 106 Neighboring gene RNA, U6 small nuclear 188, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:42749529-42750361 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:42750362-42751193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9303 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:42787505-42788048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:42788049-42788592 Neighboring gene synaptosome associated protein 23 Neighboring gene MPRA-validated peak2311 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9304 Neighboring gene HAUS augmin like complex subunit 2 Neighboring gene MYL12B pseudogene 1

    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 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. Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders. O'Brien HE, et al. Genome Biol, 2018 Nov 12. PMID 30419947, Free PMC Article
    2. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
    3. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
    4. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
    5. Interactomic analysis reveals a homeostatic role for the HIV restriction factor TRIM5α in mitophagy. Saha B, et al. Cell Rep, 2022 May 10. PMID 35545034, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Increased expression of LRRC57 is associated with genetic risk for bipolar disorder.
      Title: Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders.
    Submit: New GeneRIF Correction

    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

    • FLJ36812, DKFZp686H1865

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 57

    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_153260.3 → NP_694992.2  leucine-rich repeat-containing protein 57

      See identical proteins and their annotated locations for NP_694992.2

      Status: VALIDATED

      Source sequence(s)
      AC018362, AK094891, BE301068, BQ130124, CN350663, DA749946
      Consensus CDS
      CCDS10089.1
      UniProtKB/Swiss-Prot
      Q7Z2Z6, Q8N1T6, Q8N9N7
      UniProtKB/TrEMBL
      A0A3B3ISV5
      Related
      ENSP00000380319.3, ENST00000397130.8
      Conserved Domains (2) summary
      PRK15370
      Location:21 → 211
      PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP
      sd00033
      Location:40 → 63
      LRR_RI; leucine-rich repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      42528327..42548793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521423.4 → XP_011519725.1  leucine-rich repeat-containing protein 57 isoform X1

      UniProtKB/TrEMBL
      A0A3B3ISV5
      Conserved Domains (3) summary
      cd00116
      Location:37 → 191
      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:40 → 63
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:38 → 97
      LRR_8; Leucine rich repeat

    2. XM_011521424.4 → XP_011519726.1  leucine-rich repeat-containing protein 57 isoform X2

      UniProtKB/TrEMBL
      A0A3B3ISV5
      Conserved Domains (3) summary
      cd00116
      Location:37 → 191
      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:40 → 63
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:38 → 97
      LRR_8; Leucine rich repeat

    3. XM_047432335.1 → XP_047288291.1  leucine-rich repeat-containing protein 57 isoform X3

      UniProtKB/Swiss-Prot
      Q7Z2Z6, Q8N1T6, Q8N9N7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      40334371..40354843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377652.1 → XP_054233627.1  leucine-rich repeat-containing protein 57 isoform X1

    2. XM_054377653.1 → XP_054233628.1  leucine-rich repeat-containing protein 57 isoform X2

    3. XM_054377654.1 → XP_054233629.1  leucine-rich repeat-containing protein 57 isoform X3

      UniProtKB/Swiss-Prot
      Q7Z2Z6, Q8N1T6, Q8N9N7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9N7.1 GenPept UniProtKB/Swiss-Prot:Q8N9N7

    Gene LinkOut

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

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