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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
    mouse all
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    Genomic context

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    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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