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

    Gene ID: 23639, updated on 9-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See DNAAF11 in Genome Data Viewer
    Location:
    8q24.22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132570416..132702913, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133693703..133826388, complement)
    RS_2024_09 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    NEW Try the new Transcript table

    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_001321961.2NP_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:128146
      LRRcap; occurring C-terminal to leucine-rich repeats
      cd00116
      Location:20194
      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:4667
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:4686
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:4698
      LRR_8; Leucine rich repeat
    2. NM_001321962.2NP_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:4664
      LRRcap; occurring C-terminal to leucine-rich repeats
    3. NM_001321963.2NP_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:826
      LRRcap; occurring C-terminal to leucine-rich repeats
    4. NM_001321964.2NP_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:826
      LRRcap; occurring C-terminal to leucine-rich repeats
    5. NM_001321965.2NP_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:826
      LRRcap; occurring C-terminal to leucine-rich repeats
    6. NM_001321966.2NP_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:192240
      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:826
      LRRcap; occurring C-terminal to leucine-rich repeats
    7. NM_012472.6NP_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:4667
      LRR_1; leucine-rich repeat [structural motif]
      pfam14580
      Location:1163
      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_2024_08

    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_011516950.3XP_011515252.1  dynein axonemal assembly factor 11 isoform X2

      UniProtKB/TrEMBL
      G5EA20
      Conserved Domains (5) summary
      smart00446
      Location:134152
      LRRcap; occurring C-terminal to leucine-rich repeats
      cd00116
      Location:5200
      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:5273
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:5292
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:52104
      LRR_8; Leucine rich repeat
    2. XM_006716538.4XP_006716601.2  dynein axonemal assembly factor 11 isoform X1

      UniProtKB/TrEMBL
      G5EA20
      Conserved Domains (5) summary
      smart00446
      Location:134152
      LRRcap; occurring C-terminal to leucine-rich repeats
      cd00116
      Location:5200
      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:5273
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:5292
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:52104
      LRR_8; Leucine rich repeat
    3. XM_047421660.1XP_047277616.1  dynein axonemal assembly factor 11 isoform X8

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

      UniProtKB/TrEMBL
      G5EA20
    5. XM_047421658.1XP_047277614.1  dynein axonemal assembly factor 11 isoform X6

      UniProtKB/TrEMBL
      G5EA20
    6. XM_047421656.1XP_047277612.1  dynein axonemal assembly factor 11 isoform X4

      UniProtKB/TrEMBL
      G5EA20
    7. XM_047421659.1XP_047277615.1  dynein axonemal assembly factor 11 isoform X7

      UniProtKB/TrEMBL
      G5EA20
    8. XM_047421657.1XP_047277613.1  dynein axonemal assembly factor 11 isoform X5

      UniProtKB/TrEMBL
      G5EA20

    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_054360228.1XP_054216203.1  dynein axonemal assembly factor 11 isoform X1

      UniProtKB/TrEMBL
      G5EA20
    2. XM_054360229.1XP_054216204.1  dynein axonemal assembly factor 11 isoform X2

      UniProtKB/TrEMBL
      G5EA20
    3. XM_054360235.1XP_054216210.1  dynein axonemal assembly factor 11 isoform X8

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

      UniProtKB/TrEMBL
      G5EA20
    5. XM_054360233.1XP_054216208.1  dynein axonemal assembly factor 11 isoform X6

      UniProtKB/TrEMBL
      G5EA20
    6. XM_054360231.1XP_054216206.1  dynein axonemal assembly factor 11 isoform X4

      UniProtKB/TrEMBL
      G5EA20
    7. XM_054360234.1XP_054216209.1  dynein axonemal assembly factor 11 isoform X7

      UniProtKB/TrEMBL
      G5EA20
    8. XM_054360232.1XP_054216207.1  dynein axonemal assembly factor 11 isoform X5

      UniProtKB/TrEMBL
      G5EA20

    RNA

    1. XR_008487834.1 RNA Sequence