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LRRC56 leucine rich repeat containing 56 [ Homo sapiens (human) ]

Gene ID: 115399, updated on 3-Apr-2024

Summary

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Official Symbol
LRRC56provided by HGNC
Official Full Name
leucine rich repeat containing 56provided by HGNC
Primary source
HGNC:HGNC:25430
See related
Ensembl:ENSG00000161328 MIM:618227; AllianceGenome:HGNC:25430
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
Also known as
oda8; CILD39; DNAAF12
Summary
Predicted to be involved in cell projection organization. Predicted to be located in cilium. Implicated in primary ciliary dyskinesia 39. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 4.5), skin (RPKM 0.8) and 17 other tissues See more
Orthologs
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Genomic context

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See LRRC56 in Genome Data Viewer
Location:
11p15.5
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (506462..554912)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (584505..601897)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (537527..554912)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376506 Neighboring gene anoctamin 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3005 Neighboring gene Sharpr-MPRA regulatory region 223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:442612-443409 Neighboring gene RNA, 7SL, cytoplasmic 838, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4275 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:449779-450465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:454927-455648 Neighboring gene phosphatidylserine synthase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:460662-460845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:467161-467660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471334-471857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471858-472380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:476893-477888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:484337-484858 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:487868-488008 Neighboring gene MPRA-validated peak1145 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21531 Neighboring gene ribonuclease/angiogenin inhibitor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:528505-529042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:533792-534649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:534650-535506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:535528-536235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:540668-541490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:543860-544362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:544865-545366 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:548147-548965 and GRCh37_chr11:548966-549783 Neighboring gene HRas proto-oncogene, GTPase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:556675-557511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:561773-562348 Neighboring gene LMNTD2 antisense RNA 1 Neighboring gene lamin tail domain containing 2 Neighboring gene Ras association domain family member 7

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. Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes. Desai PB, et al. Cytoskeleton (Hoboken), 2015 Jan. PMID 25558044, Free PMC Article
  2. Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. Bonnefoy S, et al. Am J Hum Genet, 2018 Nov 1. PMID 30388400, Free PMC Article
  3. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
  4. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 39
MedGen: C4748841 OMIM: 618254 GeneReviews: Not available
Compare labs

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

  • FLJ00101, DKFZp761L1518

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leucine-rich repeat-containing protein 56
Names
dynein axonemal assembly factor 12

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_198075.4 → NP_932341.1  leucine-rich repeat-containing protein 56

    See identical proteins and their annotated locations for NP_932341.1

    Status: VALIDATED

    Source sequence(s)
    AC137894, AP006284, BC035936
    Consensus CDS
    CCDS7700.1
    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Related
    ENSP00000270115.7, ENST00000270115.8
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    506462..554912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426336.1 → XP_047282292.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4

  2. XM_017017167.2 → XP_016872656.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  3. XM_011519875.3 → XP_011518177.1  leucine-rich repeat-containing protein 56 isoform X1

    See identical proteins and their annotated locations for XP_011518177.1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  4. XM_011519877.3 → XP_011518179.1  leucine-rich repeat-containing protein 56 isoform X1

    See identical proteins and their annotated locations for XP_011518179.1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  5. XM_017017168.2 → XP_016872657.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  6. XM_006718132.3 → XP_006718195.1  leucine-rich repeat-containing protein 56 isoform X1

    See identical proteins and their annotated locations for XP_006718195.1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  7. XM_011519876.2 → XP_011518178.1  leucine-rich repeat-containing protein 56 isoform X1

    See identical proteins and their annotated locations for XP_011518178.1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  8. XM_005252775.3 → XP_005252832.1  leucine-rich repeat-containing protein 56 isoform X1

    See identical proteins and their annotated locations for XP_005252832.1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  9. XM_005252776.3 → XP_005252833.1  leucine-rich repeat-containing protein 56 isoform X2

    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

  10. XM_006718133.3 → XP_006718196.1  leucine-rich repeat-containing protein 56 isoform X1

    See identical proteins and their annotated locations for XP_006718196.1

    UniProtKB/Swiss-Prot
    Q8IYG6, Q8N3Q4
    UniProtKB/TrEMBL
    Q0P6F0
    Conserved Domains (4) summary
    cd00116
    Location:54 → 186
    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:95 → 117
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:138 → 175
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:117 → 170
    LRR_8; Leucine rich repeat

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    48617..84552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328883.1 → XP_054184858.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  2. XM_054328876.1 → XP_054184851.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  3. XM_054328880.1 → XP_054184855.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  4. XM_054328882.1 → XP_054184857.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  5. XM_054328877.1 → XP_054184852.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  6. XM_054328881.1 → XP_054184856.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  7. XM_054328887.1 → XP_054184862.1  leucine-rich repeat-containing protein 56 isoform X2

  8. XM_054328884.1 → XP_054184859.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  9. XM_054328879.1 → XP_054184854.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  10. XM_054328875.1 → XP_054184850.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  11. XM_054328878.1 → XP_054184853.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  12. XM_054328885.1 → XP_054184860.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  13. XM_054328874.1 → XP_054184849.1  leucine-rich repeat-containing protein 56 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JLS1

  14. XM_054328886.1 → XP_054184861.1  leucine-rich repeat-containing protein 56 isoform X2

  15. XM_054328888.1 → XP_054184863.1  leucine-rich repeat-containing protein 56 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    584505..601897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367600.1 → XP_054223575.1  leucine-rich repeat-containing protein 56 isoform X1

  2. XM_054367598.1 → XP_054223573.1  leucine-rich repeat-containing protein 56 isoform X1

  3. XM_054367599.1 → XP_054223574.1  leucine-rich repeat-containing protein 56 isoform X1

  4. XM_054367597.1 → XP_054223572.1  leucine-rich repeat-containing protein 56 isoform X1

  5. XM_054367602.1 → XP_054223577.1  leucine-rich repeat-containing protein 56 isoform X2

  6. XM_054367603.1 → XP_054223578.1  leucine-rich repeat-containing protein 56 isoform X2

  7. XM_054367601.1 → XP_054223576.1  leucine-rich repeat-containing protein 56 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYG6.1 GenPept UniProtKB/Swiss-Prot:Q8IYG6

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