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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Title: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
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.
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	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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70686 (e-PCR)
- UniSTS:50232

STS-T91224 (e-PCR)
- UniSTS:35226

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

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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

NG_033068.2 RefSeqGene

Range

32368..137497

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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

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
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
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
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
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
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
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
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
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
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

132570416..132702913 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047421660.1 → XP_047277616.1 dynein axonemal assembly factor 11 isoform X8
XM_017013296.2 → XP_016868785.1 dynein axonemal assembly factor 11 isoform X3

UniProtKB/TrEMBL

G5EA20
XM_047421658.1 → XP_047277614.1 dynein axonemal assembly factor 11 isoform X6
XM_047421656.1 → XP_047277612.1 dynein axonemal assembly factor 11 isoform X4
XM_047421659.1 → XP_047277615.1 dynein axonemal assembly factor 11 isoform X7
XM_047421657.1 → XP_047277613.1 dynein axonemal assembly factor 11 isoform X5