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

Gene ID: 151827, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in testis (RPKM 6.3), brain (RPKM 1.7) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
3q26.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169793003..169812904, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172577228..172597130, complement)
105.20220307 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
  • 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_2023_10

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

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