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

Gene ID: 255252, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 9.0), placenta (RPKM 6.1) and 25 other tissues See more
Orthologs
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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 Variation Viewer (GRCh37.p13)

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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