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DNAAF11 dynein axonemal assembly factor 11 [ Homo sapiens (human) ]

Gene ID: 23639, updated on 3-Apr-2024

Summary

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Official Symbol
DNAAF11provided by HGNC
Official Full Name
dynein axonemal assembly factor 11provided by HGNC
Primary source
HGNC:HGNC:16725
See related
Ensembl:ENSG00000129295 MIM:614930; AllianceGenome:HGNC:16725
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRTP; tilB; LRRC6; TSLRP; CILD19
Summary
The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
Expression
Broad expression in testis (RPKM 4.7), kidney (RPKM 2.2) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.22
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132570416..132702913, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133693703..133826388, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133582664..133687791, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902028 Neighboring gene Helicobacter pylori responsive 1 Neighboring gene uncharacterized LOC105375767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:133699646-133700172 Neighboring gene transmembrane protein 71 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:133787363-133787864 Neighboring gene PHD finger protein 20 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133894667-133895168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133895169-133895668 Neighboring gene thyroglobulin Neighboring gene ribosomal protein L21 pseudogene 78

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. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility. Li Y, et al. J Assist Reprod Genet, 2023 Jan. PMID 36515799, Free PMC Article
  2. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient. Liu L, et al. Biomed Res Int, 2018. PMID 29511670, Free PMC Article
  3. An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. Djakow J, et al. Pediatr Pulmonol, 2016 May. PMID 26228299
  4. [Molecular genetic mechanisms of teratozoospermia]. Liu RZ, et al. Zhonghua Nan Ke Xue, 2013 Dec. PMID 24432614
  5. LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. Horani A, et al. PLoS One, 2013. PMID 23527195, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
    Title: Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
  2. Our study not only further supported the importance of LRRC6 in Primary ciliary dyskinesia (PCD), but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients.
    Title: Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.
  3. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
    Title: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
  4. LRRC6 plays a role in dynein arm assembly or trafficking and when mutated leads to primary ciliary dyskinesia with laterality defects.
    Title: LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.
  5. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
    Title: Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
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

Associated conditions

Description Tests
Primary ciliary dyskinesia 19
MedGen: C3543826 OMIM: 614935 GeneReviews: Primary Ciliary Dyskinesia
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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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cerebrospinal fluid circulation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within establishment of localization in cell ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in inner dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in male gonad development ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within outer dynein arm assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein localization to cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization to motile cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in reproductive system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in apical cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dynein axonemal particle ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dynein axonemal assembly factor 11
Names
leucine rich repeat containing 6
protein TILB homolog
seahorse
testis-specific leucine-rich repeat protein

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.

Genomic

  1. NG_033068.2 RefSeqGene

    Range
    32368..137497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321961.2 → NP_001308890.1  dynein axonemal assembly factor 11 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AF216667, AL041128, BC047286, BM981867, CA426602, DA570320
    UniProtKB/TrEMBL
    G5EA20
    Conserved Domains (5) summary
    smart00446
    Location:128 → 146
    LRRcap; occurring C-terminal to leucine-rich repeats
    cd00116
    Location:20 → 194
    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:46 → 67
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:46 → 86
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:46 → 98
    LRR_8; Leucine rich repeat

  2. NM_001321962.2 → NP_001308891.1  dynein axonemal assembly factor 11 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA310108, DA570320
    UniProtKB/Swiss-Prot
    Q86X45
    Conserved Domains (1) summary
    smart00446
    Location:46 → 64
    LRRcap; occurring C-terminal to leucine-rich repeats

  3. NM_001321963.2 → NP_001308892.1  dynein axonemal assembly factor 11 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Variants 5, 6 and 7 all encode isoform d.
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320
    UniProtKB/Swiss-Prot
    Q86X45
    Conserved Domains (1) summary
    smart00446
    Location:8 → 26
    LRRcap; occurring C-terminal to leucine-rich repeats

  4. NM_001321964.2 → NP_001308893.1  dynein axonemal assembly factor 11 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a. Variants 5, 6 and 7 all encode isoform d.
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320
    UniProtKB/Swiss-Prot
    Q86X45
    Conserved Domains (1) summary
    smart00446
    Location:8 → 26
    LRRcap; occurring C-terminal to leucine-rich repeats

  5. NM_001321965.2 → NP_001308894.1  dynein axonemal assembly factor 11 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate 5' terminal exon and lacks an alternate exon in the 5' region, and it thus differs in its 5' UTR and initiates translation from an downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320, DR002710
    UniProtKB/Swiss-Prot
    Q86X45
    Conserved Domains (1) summary
    smart00446
    Location:8 → 26
    LRRcap; occurring C-terminal to leucine-rich repeats

  6. NM_001321966.2 → NP_001308895.1  dynein axonemal assembly factor 11 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, and it also lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (e) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AF216667, AL041128, BC047286, BM981867, CA426602, DA359044, DA570320
    UniProtKB/Swiss-Prot
    Q86X45
    Conserved Domains (2) summary
    cd00298
    Location:192 → 240
    ACD_sHsps_p23-like; This domain family includes the alpha-crystallin domain (ACD) of alpha-crystallin-type small heat shock proteins (sHsps) and a similar domain found in p23-like proteins. sHsps are small stress induced proteins with monomeric masses between 12 -43 kDa, ...
    smart00446
    Location:8 → 26
    LRRcap; occurring C-terminal to leucine-rich repeats

  7. NM_012472.6 → NP_036604.2  dynein axonemal assembly factor 11 isoform a

    See identical proteins and their annotated locations for NP_036604.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320
    Consensus CDS
    CCDS6365.1
    UniProtKB/Swiss-Prot
    Q13648, Q4G183, Q86X45
    UniProtKB/TrEMBL
    G5EA20
    Related
    ENSP00000484634.1, ENST00000620350.5
    Conserved Domains (2) summary
    sd00031
    Location:46 → 67
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:1 → 163
    LRR_9; Leucine-rich repeat

RNA

  1. NR_073525.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site and includes an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC027589, BC047286, BM981867, CA426602, DA570320

  2. NR_135905.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an additional internal exon but lacks a different internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320, DR002710

  3. NR_135906.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks three internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA310108, DA570320, DA789153

  4. NR_135907.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, BU674822, CA426602, DA570320

  5. NR_135908.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks four internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, AL041128, BC047286, BM981867, CA426602, DA310108, DA570320, DA789153

  6. NR_135909.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) contains an alternate 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, BU674822, CA426602, DA359044, DA570320

  7. NR_135910.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) contains an alternate 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, BU674822, CA426602, DA570320

  8. NR_135911.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) contains an alternate 5' terminal exon and lacks three internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320, DA789153

  9. NR_135912.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) contains an alternate 5' terminal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320, DA789153, DR002710

  10. NR_135913.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) contains an alternate 5' terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, which is in-frame with the coding sequence of variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF216667, BC047286, BM981867, CA426602, DA570320, DA789153, DR002710

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    132570416..132702913 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516950.3 → XP_011515252.1  dynein axonemal assembly factor 11 isoform X2

    UniProtKB/TrEMBL
    G5EA20
    Conserved Domains (5) summary
    smart00446
    Location:134 → 152
    LRRcap; occurring C-terminal to leucine-rich repeats
    cd00116
    Location:5 → 200
    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:52 → 73
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:52 → 92
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:52 → 104
    LRR_8; Leucine rich repeat

  2. XM_006716538.4 → XP_006716601.2  dynein axonemal assembly factor 11 isoform X1

    UniProtKB/TrEMBL
    G5EA20
    Conserved Domains (5) summary
    smart00446
    Location:134 → 152
    LRRcap; occurring C-terminal to leucine-rich repeats
    cd00116
    Location:5 → 200
    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:52 → 73
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:52 → 92
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:52 → 104
    LRR_8; Leucine rich repeat

  3. XM_047421660.1 → XP_047277616.1  dynein axonemal assembly factor 11 isoform X8

  4. XM_017013296.2 → XP_016868785.1  dynein axonemal assembly factor 11 isoform X3

    UniProtKB/TrEMBL
    G5EA20

  5. XM_047421658.1 → XP_047277614.1  dynein axonemal assembly factor 11 isoform X6

  6. XM_047421656.1 → XP_047277612.1  dynein axonemal assembly factor 11 isoform X4

  7. XM_047421659.1 → XP_047277615.1  dynein axonemal assembly factor 11 isoform X7

  8. XM_047421657.1 → XP_047277613.1  dynein axonemal assembly factor 11 isoform X5

RNA

  1. XR_007060728.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    133693703..133826388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360228.1 → XP_054216203.1  dynein axonemal assembly factor 11 isoform X1

  2. XM_054360229.1 → XP_054216204.1  dynein axonemal assembly factor 11 isoform X2

  3. XM_054360235.1 → XP_054216210.1  dynein axonemal assembly factor 11 isoform X8

  4. XM_054360230.1 → XP_054216205.1  dynein axonemal assembly factor 11 isoform X3

  5. XM_054360233.1 → XP_054216208.1  dynein axonemal assembly factor 11 isoform X6

  6. XM_054360231.1 → XP_054216206.1  dynein axonemal assembly factor 11 isoform X4

  7. XM_054360234.1 → XP_054216209.1  dynein axonemal assembly factor 11 isoform X7

  8. XM_054360232.1 → XP_054216207.1  dynein axonemal assembly factor 11 isoform X5

RNA

  1. XR_008487834.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86X45.3 GenPept UniProtKB/Swiss-Prot:Q86X45

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