DNAAF6 dynein axonemal assembly factor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAAF6provided by HGNC
Official Full Name: dynein axonemal assembly factor 6provided by HGNC
Primary source: HGNC:HGNC:28570
See related: Ensembl:ENSG00000080572 MIM:300933; AllianceGenome:HGNC:28570
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: CILD36; PIH1D3; CXorf41; NYSAR97; TWISTER
Summary: Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 2.7) See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (107206611..107244247)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (105643020..105680647)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (106449841..106487477)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Title: Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk.
Title: Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk.
Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome.
Title: Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome.
Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
Title: Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia.
[Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].
Title: [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia].
Study propose that PIH1D3 is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
Title: X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Title: Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

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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, 36, X-linked MedGen: C4478372 OMIM: 300991 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein intermediate chain binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in axonemal dynein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonemal dynein complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonemal dynein complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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 outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dynein axonemal assembly factor 6

Names: PIH1 domain containing 3; PIH1 domain-containing protein 3; dynein assembly factor 6, axonemal; protein PIH1D3; sarcoma antigen NY-SAR-97

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_016377.1 RefSeqGene

Range

4980..42616

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001169154.2 → NP_001162625.1 dynein axonemal assembly factor 6

See identical proteins and their annotated locations for NP_001162625.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AI147427, AL136112, BC033510

Consensus CDS

CCDS14528.1

UniProtKB/Swiss-Prot

D3DUX5, Q86WE1, Q9NQM4

Related

ENSP00000441930.1, ENST00000535523.6

Conserved Domains (1) summary

cl00175
Location:110 → 202

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
NM_173494.2 → NP_775765.1 dynein axonemal assembly factor 6

See identical proteins and their annotated locations for NP_775765.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL136112, BC033510

Consensus CDS

CCDS14528.1

UniProtKB/Swiss-Prot

D3DUX5, Q86WE1, Q9NQM4

Related

ENSP00000361531.3, ENST00000372453.8

Conserved Domains (1) summary

cl00175
Location:110 → 202

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.