Dnah17 dynein, axonemal, heavy chain 17 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnah17provided by MGI
Official Full Name: dynein, axonemal, heavy chain 17provided by MGI
Primary source: MGI:MGI:1917176
See related: Ensembl:ENSMUSG00000033987 AllianceGenome:MGI:1917176
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm1178; Dnahc17; Dnahcl1; mKIAA3028; 2810003K23Rik
Summary: Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Predicted to be involved in cilium movement and outer dynein arm assembly. Predicted to be located in sperm flagellum. Predicted to be part of outer dynein arm. Predicted to be active in axoneme and motile cilium. Used to study spermatogenic failure 39. Human ortholog(s) of this gene implicated in spermatogenic failure 39. Orthologous to human DNAH17 (dynein axonemal heavy chain 17). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 14.0), thymus adult (RPKM 1.2) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 82.96 cM

Exon count:: 83

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (117912549..118021684, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (118021723..118130719, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
Title: Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
Title: A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based movement	IEA Inferred from Electronic Annotation more info
involved_in outer dynein arm assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dynein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
part_of outer dynein arm	ISM Inferred from Sequence Model more info	PubMed
part_of outer dynein arm	ISO Inferred from Sequence Orthology more info
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dynein axonemal heavy chain 17

Names: axonemal beta dynein heavy chain 17; ciliary dynein heavy chain 17; dynein heavy chain 17, axonemal; dynein, axonemal, heavy like 1; dynein, axonemal, heavy polypeptide 17

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)

NM_001167746.1 → NP_001161218.1 dynein axonemal heavy chain 17

Status: VALIDATED

Source sequence(s)

AL591204, AL591433

Consensus CDS

CCDS48994.1

UniProtKB/Swiss-Prot

O08820, Q69Z23

UniProtKB/TrEMBL

E9Q7P0

Related

ENSMUSP00000081864.6, ENSMUST00000084803.12

Conserved Domains (6) summary

pfam03028
Location:3750 → 4443

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:185 → 764

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1265 → 1669

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:3027 → 3370

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3397 → 3610

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:2400 → 2671

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

117912549..118021684 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006534150.5 → XP_006534213.1 dynein axonemal heavy chain 17 isoform X1

UniProtKB/TrEMBL

A2A520, K3W4R0

Related

ENSMUSP00000120542.3, ENSMUST00000132685.9

Conserved Domains (7) summary

COG5245
Location:1493 → 4124

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam12777
Location:3040 → 3383

MT; Microtubule-binding stalk of dynein motor

pfam08385
Location:187 → 764

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1266 → 1672

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1806 → 2132

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam12780
Location:2768 → 3027

AAA_8; P-loop containing dynein motor region D4

pfam18199
Location:4162 → 4457

Dynein_C; Dynein heavy chain C-terminal domain
XM_006534151.4 → XP_006534214.1 dynein axonemal heavy chain 17 isoform X2

UniProtKB/TrEMBL

K3W4R0

Conserved Domains (7) summary

COG5245
Location:979 → 3610

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam12777
Location:2526 → 2869

MT; Microtubule-binding stalk of dynein motor

pfam08385
Location:2 → 250

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:752 → 1158

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1292 → 1618

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam12780
Location:2254 → 2513

AAA_8; P-loop containing dynein motor region D4

pfam18199
Location:3648 → 3943

Dynein_C; Dynein heavy chain C-terminal domain
XM_006534152.4 → XP_006534215.1 dynein axonemal heavy chain 17 isoform X3

Conserved Domains (5) summary

pfam08385
Location:187 → 764

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1266 → 1672

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1806 → 2132

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam17852
Location:2291 → 2408

Dynein_AAA_lid; Dynein heavy chain AAA lid domain

cl38936
Location:2120 → 2255

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases