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    LRRC34 leucine rich repeat containing 34 [ Homo sapiens (human) ]

    Gene ID: 151827, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LRRC34provided by HGNC
    Official Full Name
    leucine rich repeat containing 34provided by HGNC
    Primary source
    HGNC:HGNC:28408
    See related
    Ensembl:ENSG00000171757 MIM:619037; AllianceGenome:HGNC:28408
    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
    Predicted to be involved in cell differentiation. Predicted to be located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 6.3), brain (RPKM 1.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC34 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169793003..169812904, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172577228..172597130, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169510791..169530692, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:169490847-169491350 Neighboring gene tRNA-Val (anticodon AAC) 1-1 Neighboring gene myoneurin Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169512145 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169524016 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169526272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20787 Neighboring gene leucine rich repeats and IQ motif containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20788 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:169564950-169565107 Neighboring gene leucine rich repeat containing 31 Neighboring gene keratin 18 pseudogene 43

    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. Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma. Comiskey DF Jr, et al. J Med Genet, 2020 Aug. PMID 32051256
    2. Lrrc34 Is Highly Expressed in SSCs and Is Necessary for SSC Expansion In Vitro. Ou JH, et al. Chin Med Sci J, 2020 Mar 31. PMID 32299535
    3. A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. Pooley KA, et al. Hum Mol Genet, 2013 Dec 15. PMID 23900074, Free PMC Article
    4. Lrrc34, a novel nucleolar protein, interacts with npm1 and ncl and has an impact on pluripotent stem cells. Lührig S, et al. Stem Cells Dev, 2014 Dec 1. PMID 24991885, Free PMC Article
    5. Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Fingerlin TE, et al. Nat Genet, 2013 Jun. PMID 23583980, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma.
      Title: Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma.
    2. LRRC34 is a novel nucleolar protein that is predominantly expressed in pluripotent stem cells.
      Title: Lrrc34, a novel nucleolar protein, interacts with npm1 and ncl and has an impact on pluripotent stem cells.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    EBI GWAS Catalog

    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

    • FLJ27346, MGC27085

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 34

    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_001172779.2 → NP_001166250.1  leucine-rich repeat-containing protein 34 isoform 2

      See identical proteins and their annotated locations for NP_001166250.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' splice pattern with additional 3' coding exons, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC078795, AK293661, BC032841, DB500348
      Consensus CDS
      CCDS54672.1
      UniProtKB/Swiss-Prot
      B4DEJ7, E9PBH2, G5E9T7, Q8IZ02
      UniProtKB/TrEMBL
      B4DYJ4
      Related
      ENSP00000414635.1, ENST00000446859.7
      Conserved Domains (2) summary
      sd00033
      Location:153 → 180
      LRR_RI; leucine-rich repeat [structural motif]
      cl26161
      Location:147 → 396
      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_001172780.2 → NP_001166251.1  leucine-rich repeat-containing protein 34 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AC078795, AK295065, CN479293, DB500348
      UniProtKB/TrEMBL
      B4DHF2
      Conserved Domains (2) summary
      cd00116
      Location:147 → 356
      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:153 → 180
      LRR_RI; leucine-rich repeat [structural motif]

    3. NM_001363888.2 → NP_001350817.1  leucine-rich repeat-containing protein 34 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and has a longer and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC078795
      Consensus CDS
      CCDS87166.1
      UniProtKB/TrEMBL
      B4DYJ4, G3V115
      Related
      ENSP00000429593.1, ENST00000522830.5
      Conserved Domains (2) summary
      sd00033
      Location:92 → 119
      LRR_RI; leucine-rich repeat [structural motif]
      cl26161
      Location:86 → 335
      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 ...

    4. NM_001370608.1 → NP_001357537.1  leucine-rich repeat-containing protein 34 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC078795
      Conserved Domains (2) summary
      sd00033
      Location:92 → 118
      LRR_RI; leucine-rich repeat [structural motif]
      cl29113
      Location:86 → 334
      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 ...

    5. NM_001370609.1 → NP_001357538.1  leucine-rich repeat-containing protein 34 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC078795
      UniProtKB/TrEMBL
      B3KT77, B4DHF2
      Related
      ENST00000522596.6
      Conserved Domains (2) summary
      sd00033
      Location:92 → 119
      LRR_RI; leucine-rich repeat [structural motif]
      cl29113
      Location:86 → 295
      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 ...

    6. NM_153353.5 → NP_699184.2  leucine-rich repeat-containing protein 34 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region and uses an alternate 3' splice pattern with additional 3' coding exons, compared to variant 1. The resulting isoform (3) lacks an internal segment and has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC078795, AK293661, BC032841, DB500348
      Consensus CDS
      CCDS3208.2
      UniProtKB/TrEMBL
      B4DYJ4
      Related
      ENSP00000429278.2, ENST00000522526.6
      Conserved Domains (4) summary
      cd00116
      Location:147 → 364
      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:153 → 180
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:125 → 151
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam13855
      Location:262 → 331
      LRR_8; Leucine rich repeat

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      169793003..169812904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713508.5 → XP_006713571.1  leucine-rich repeat-containing protein 34 isoform X2

      UniProtKB/TrEMBL
      B4DYJ4
      Conserved Domains (3) summary
      cd00116
      Location:129 → 378
      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:135 → 162
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:276 → 345
      LRR_8; Leucine rich repeat

    2. XM_011512442.3 → XP_011510744.1  leucine-rich repeat-containing protein 34 isoform X1

      Conserved Domains (3) summary
      cd00116
      Location:147 → 395
      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:153 → 179
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:293 → 362
      LRR_8; Leucine rich repeat

    3. XM_047447492.1 → XP_047303448.1  leucine-rich repeat-containing protein 34 isoform X4

    4. XM_047447491.1 → XP_047303447.1  leucine-rich repeat-containing protein 34 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      172577228..172597130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345340.1 → XP_054201315.1  leucine-rich repeat-containing protein 34 isoform X2

    2. XM_054345339.1 → XP_054201314.1  leucine-rich repeat-containing protein 34 isoform X1

    3. XM_054345342.1 → XP_054201317.1  leucine-rich repeat-containing protein 34 isoform X4

    4. XM_054345341.1 → XP_054201316.1  leucine-rich repeat-containing protein 34 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ02.3 GenPept UniProtKB/Swiss-Prot:Q8IZ02

    Gene LinkOut

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

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