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LRRC27 leucine rich repeat containing 27 [ Homo sapiens (human) ]

Gene ID: 80313, updated on 3-Apr-2024

Summary

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Official Symbol
LRRC27provided by HGNC
Official Full Name
leucine rich repeat containing 27provided by HGNC
Primary source
HGNC:HGNC:29346
See related
Ensembl:ENSG00000148814 AllianceGenome:HGNC:29346
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
Biased expression in testis (RPKM 8.7), brain (RPKM 1.4) and 13 other tissues See more
Orthologs
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Genomic context

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See LRRC27 in Genome Data Viewer
Location:
10q26.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (132330063..132381508)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (133272696..133327017)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (134145697..134195012)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Janus kinase and microtubule interacting protein 3 Neighboring gene JAKMIP3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134001171-134001672 Neighboring gene dihydropyrimidinase like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4222 Neighboring gene serine/threonine kinase 32C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134056390-134057274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134067757-134068258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134068259-134068758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134078043-134078543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134096746-134097345 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134111356-134111519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134122180-134122724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134122725-134123267 Neighboring gene Sharpr-MPRA regulatory region 5064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:134144980-134145514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4224 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134152941-134153095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134166187-134167149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134203032-134203711 Neighboring gene uncharacterized LOC124902526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134208622-134209145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134209146-134209668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134211239-134211761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134211762-134212284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134214271-134215047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134218733-134219360 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134221245-134221872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134221873-134222500 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134222501-134223127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134227291-134227958 Neighboring gene PWWP domain containing 2B

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. Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study. Kim YW, et al. Sci Rep, 2020 Jan 14. PMID 31937794, Free PMC Article
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
  3. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
  4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study.
    Title: Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study.
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 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cardiac muscle cell development IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in sarcomere IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
leucine-rich repeat-containing protein 27
Names
testicular tissue protein Li 108

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_001143757.2 → NP_001137229.1  leucine-rich repeat-containing protein 27 isoform a

    See identical proteins and their annotated locations for NP_001137229.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AB051461, AK097418, AL512722, AL590105, DA203895
    Consensus CDS
    CCDS31316.1
    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2, B3KUK5
    Related
    ENSP00000357602.4, ENST00000368613.8
    Conserved Domains (4) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12302
    Location:331 → 471
    DUF3629; Protein of unknown function (DUF3629)
    pfam12799
    Location:67 → 108
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat

  2. NM_001143758.2 → NP_001137230.1  leucine-rich repeat-containing protein 27 isoform b

    See identical proteins and their annotated locations for NP_001137230.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses a distinct splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL590105, BC050097
    Consensus CDS
    CCDS44495.1
    UniProtKB/Swiss-Prot
    Q9C0I9
    Related
    ENSP00000486582.1, ENST00000625755.2
    Conserved Domains (2) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat

  3. NM_001143759.2 → NP_001137231.1  leucine-rich repeat-containing protein 27 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) includes an alternate exon and uses a distinct splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK098652, AL590105, BX117491
    Consensus CDS
    CCDS44496.1
    UniProtKB/Swiss-Prot
    Q9C0I9
    Related
    ENSP00000342641.5, ENST00000344079.9
    Conserved Domains (4) summary
    cd00116
    Location:50 → 150
    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 ...
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:67 → 108
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat

  4. NM_001309474.2 → NP_001296403.1  leucine-rich repeat-containing protein 27 isoform d

    See identical proteins and their annotated locations for NP_001296403.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in both UTRs, uses an in-frame downstream start codon, and includes a novel 3' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AK301422, BQ775276
    UniProtKB/TrEMBL
    B4DW88
    Conserved Domains (1) summary
    PTZ00121
    Location:205 → 341
    PTZ00121; MAEBL; Provisional

  5. NM_030626.3 → NP_085129.1  leucine-rich repeat-containing protein 27 isoform a

    See identical proteins and their annotated locations for NP_085129.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB051461, AL512722, AL590105, DA658738
    Consensus CDS
    CCDS31316.1
    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2, B3KUK5
    Related
    ENSP00000357603.3, ENST00000368614.8
    Conserved Domains (4) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12302
    Location:331 → 471
    DUF3629; Protein of unknown function (DUF3629)
    pfam12799
    Location:67 → 108
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:67 → 126
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    132330063..132381508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540208.2 → XP_011538510.1  leucine-rich repeat-containing protein 27 isoform X1

    See identical proteins and their annotated locations for XP_011538510.1

    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2, B3KUK5
    Conserved Domains (4) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12302
    Location:331 → 471
    DUF3629; Protein of unknown function (DUF3629)
    pfam12799
    Location:67 → 108
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat

  2. XM_047425785.1 → XP_047281741.1  leucine-rich repeat-containing protein 27 isoform X1

    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2

  3. XM_047425786.1 → XP_047281742.1  leucine-rich repeat-containing protein 27 isoform X1

    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2

  4. XM_047425787.1 → XP_047281743.1  leucine-rich repeat-containing protein 27 isoform X2

  5. XM_047425788.1 → XP_047281744.1  leucine-rich repeat-containing protein 27 isoform X4

  6. XM_024448208.2 → XP_024303976.1  leucine-rich repeat-containing protein 27 isoform X4

    UniProtKB/TrEMBL
    B3KUK5
    Conserved Domains (3) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat
    cl26511
    Location:225 → 478
    Neuromodulin_N; Gap junction protein N-terminal region

  7. XM_011540209.3 → XP_011538511.1  leucine-rich repeat-containing protein 27 isoform X2

    UniProtKB/TrEMBL
    B3KUK5
    Conserved Domains (4) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12302
    Location:331 → 471
    DUF3629; Protein of unknown function (DUF3629)
    pfam12799
    Location:67 → 108
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat

  8. XM_006717984.4 → XP_006718047.1  leucine-rich repeat-containing protein 27 isoform X4

    UniProtKB/TrEMBL
    B3KUK5
    Conserved Domains (3) summary
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat
    cl26511
    Location:225 → 478
    Neuromodulin_N; Gap junction protein N-terminal region

  9. XM_047425789.1 → XP_047281745.1  leucine-rich repeat-containing protein 27 isoform X5

  10. XM_017016690.3 → XP_016872179.1  leucine-rich repeat-containing protein 27 isoform X3

    UniProtKB/TrEMBL
    B3KUK5

  11. XM_047425793.1 → XP_047281749.1  leucine-rich repeat-containing protein 27 isoform X8

  12. XM_047425791.1 → XP_047281747.1  leucine-rich repeat-containing protein 27 isoform X8

  13. XM_047425792.1 → XP_047281748.1  leucine-rich repeat-containing protein 27 isoform X8

  14. XM_047425794.1 → XP_047281750.1  leucine-rich repeat-containing protein 27 isoform X9

  15. XM_047425790.1 → XP_047281746.1  leucine-rich repeat-containing protein 27 isoform X6

  16. XM_017016692.3 → XP_016872181.1  leucine-rich repeat-containing protein 27 isoform X8

    UniProtKB/Swiss-Prot
    Q9C0I9
    Conserved Domains (4) summary
    cd00116
    Location:50 → 150
    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 ...
    sd00031
    Location:49 → 68
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:67 → 108
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:67 → 126
    LRR_8; Leucine rich repeat

  17. XM_017016693.3 → XP_016872182.1  leucine-rich repeat-containing protein 27 isoform X9

  18. XM_017016691.3 → XP_016872180.1  leucine-rich repeat-containing protein 27 isoform X6

  19. XM_011540210.4 → XP_011538512.1  leucine-rich repeat-containing protein 27 isoform X7

    Related
    ENSP00000357601.1, ENST00000368612.3
    Conserved Domains (1) summary
    pfam12302
    Location:204 → 344
    DUF3629; Protein of unknown function (DUF3629)

RNA

  1. XR_001747213.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    133272696..133327017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366809.1 → XP_054222784.1  leucine-rich repeat-containing protein 27 isoform X1

    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2

  2. XM_054366816.1 → XP_054222791.1  leucine-rich repeat-containing protein 27 isoform X4

  3. XM_054366811.1 → XP_054222786.1  leucine-rich repeat-containing protein 27 isoform X2

  4. XM_054366814.1 → XP_054222789.1  leucine-rich repeat-containing protein 27 isoform X4

  5. XM_054366817.1 → XP_054222792.1  leucine-rich repeat-containing protein 27 isoform X5

  6. XM_054366813.1 → XP_054222788.1  leucine-rich repeat-containing protein 27 isoform X3

  7. XM_054366824.1 → XP_054222799.1  leucine-rich repeat-containing protein 27 isoform X8

  8. XM_054366823.1 → XP_054222798.1  leucine-rich repeat-containing protein 27 isoform X8

  9. XM_054366826.1 → XP_054222801.1  leucine-rich repeat-containing protein 27 isoform X9

  10. XM_054366819.1 → XP_054222794.1  leucine-rich repeat-containing protein 27 isoform X6

  11. XM_054366821.1 → XP_054222796.1  leucine-rich repeat-containing protein 27 isoform X8

  12. XM_054366825.1 → XP_054222800.1  leucine-rich repeat-containing protein 27 isoform X9

  13. XM_054366818.1 → XP_054222793.1  leucine-rich repeat-containing protein 27 isoform X6

  14. XM_054366808.1 → XP_054222783.1  leucine-rich repeat-containing protein 27 isoform X1

    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2

  15. XM_054366822.1 → XP_054222797.1  leucine-rich repeat-containing protein 27 isoform X8

  16. XM_054366815.1 → XP_054222790.1  leucine-rich repeat-containing protein 27 isoform X4

  17. XM_054366812.1 → XP_054222787.1  leucine-rich repeat-containing protein 27 isoform X2

  18. XM_054366810.1 → XP_054222785.1  leucine-rich repeat-containing protein 27 isoform X1

    UniProtKB/Swiss-Prot
    A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
    UniProtKB/TrEMBL
    A0A140VJN2

  19. XM_054366820.1 → XP_054222795.1  leucine-rich repeat-containing protein 27 isoform X7

RNA

  1. XR_008488271.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0I9.2 GenPept UniProtKB/Swiss-Prot:Q9C0I9

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