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

Gene ID: 151827, updated on 13-Jun-2021

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 MIM:619037
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
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Genomic context

See LRRC34 in Genome Data Viewer
Location:
3q26.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (169793003..169812904, complement)
105.20201022 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 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 Neighboring gene keratin 18 pseudogene 43

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
GeneReviews: Not available

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
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

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_001172779.2NP_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, ENST00000446859.7
    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
    Related
    ENSP00000429593.1, ENST00000522830.5
    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
    Conserved Domains (2) summary
    sd00033
    Location:92118
    LRR_RI; leucine-rich repeat [structural motif]
    cl29113
    Location:86334
    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_001370609.1NP_001357538.1  leucine-rich repeat-containing protein 34 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC078795
    Related
    ENST00000522596.6
    Conserved Domains (2) summary
    sd00033
    Location:92119
    LRR_RI; leucine-rich repeat [structural motif]
    cl29113
    Location:86295
    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_153353.5NP_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 Updated Annotation Release 109.20210514

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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