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

    Gene ID: 151827, updated on 17-Jun-2019

    Summary

    Official Symbol
    LRRC34provided by HGNC
    Official Full Name
    leucine rich repeat containing 34provided by HGNC
    Primary source
    HGNC:HGNC:28408
    See related
    Ensembl:ENSG00000171757
    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
    Expression
    Broad expression in testis (RPKM 6.3), brain (RPKM 1.7) and 19 other tissues See more
    Orthologs

    Genomic context

    See LRRC34 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (169793003..169812904, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169511216..169530574, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7912 Neighboring gene tRNA-Val (anticodon AAC) 1-1 Neighboring gene myoneurin Neighboring gene leucine rich repeats and IQ motif containing 4 Neighboring gene leucine rich repeat containing 31

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI 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.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ27346, MGC27085

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    leucine-rich repeat-containing protein 34

    NCBI Reference Sequences (RefSeq)

    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_001172779.2NP_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
      Q8IZ02
      Related
      ENSP00000414635.1, ENST00000446859.5
      Conserved Domains (2) summary
      sd00033
      Location:153180
      LRR_RI; leucine-rich repeat [structural motif]
      cl26161
      Location:147396
      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_001172780.2NP_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:147356
      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:153180
      LRR_RI; leucine-rich repeat [structural motif]
    3. NM_001363888.2NP_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
      Conserved Domains (2) summary
      sd00033
      Location:92119
      LRR_RI; leucine-rich repeat [structural motif]
      cl26161
      Location:86335
      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_001370608.1NP_001357537.1  leucine-rich repeat-containing protein 34 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC078795
    5. NM_001370609.1NP_001357538.1  leucine-rich repeat-containing protein 34 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC078795
    6. NM_153353.5NP_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/Swiss-Prot
      Q8IZ02
      Related
      ENSP00000429278.2, ENST00000522526.6
      Conserved Domains (4) summary
      cd00116
      Location:147364
      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:153180
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:125151
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam13855
      Location:262331
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006713508.4XP_006713571.1  leucine-rich repeat-containing protein 34 isoform X2

      Conserved Domains (3) summary
      cd00116
      Location:129378
      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:135162
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:276345
      LRR_8; Leucine rich repeat
    2. XM_011512442.2XP_011510744.1  leucine-rich repeat-containing protein 34 isoform X1

      Conserved Domains (3) summary
      cd00116
      Location:147395
      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:153179
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:293362
      LRR_8; Leucine rich repeat
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