DNAH17 dynein axonemal heavy chain 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAH17provided by HGNC
Official Full Name: dynein axonemal heavy chain 17provided by HGNC
Primary source: HGNC:HGNC:2946
See related: Ensembl:ENSG00000187775 MIM:610063; AllianceGenome:HGNC:2946
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: DNEL2; DNAHL1; SPGF39
Summary: Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in testis (RPKM 7.4), brain (RPKM 1.0) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 81

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (78423697..78577396, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (79317211..79471915, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (76419778..76573478, complement)

Chromosome 17 - NC_000017.11 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?

Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.
Title: Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.
Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella.
Title: Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella.
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.
Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects.
Title: Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects.
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
Title: DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
Title: A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
Mutations in DNAH17 Cause Isolated Male Infertility Due to Asthenozoospermia.
Title: Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
We found that overexpression of DNAH17 by down-regulation of methylation levels might contribute to hepatocellular carcinoma (HCC) initiation and progression. In addition, the hypomethylation status of the DNAH17 gene, both in tumor tissue and adjacent non-cancerous tissue, could be a promising biomarker for tumor thrombosis in HCC.
Title: The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

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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
Spermatogenic failure 39 MedGen: C5231438 OMIM: 618643 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-154024 (e-PCR)
- UniSTS:183068

D17S1637 (e-PCR)
- UniSTS:153660

RH98785 (e-PCR)
- UniSTS:85312

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-149110 (e-PCR)
- UniSTS:176805

RH18538 (e-PCR)
- UniSTS:9918

RH103691 (e-PCR)
- UniSTS:98016

Gene Ontology Provided by GOA

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 microtubule motor activity	NAS Non-traceable Author Statement more info	PubMed
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium-dependent cell motility	NAS Non-traceable Author Statement more info	PubMed
involved_in outer dynein arm assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
part_of axonemal dynein complex	NAS Non-traceable Author Statement more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
part_of dynein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
part_of outer dynein arm	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dynein axonemal heavy chain 17

Names: axonemal beta dynein heavy chain 17; axonemal dynein heavy chain-like protein 1; ciliary dynein heavy chain 17; ciliary dynein heavy chain-like protein 1; dynein axonemal light chain 2; dynein heavy chain 17, axonemal; dynein light chain 2, axonemal; 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_173628.4 → NP_775899.3 dynein axonemal heavy chain 17

Status: VALIDATED

Source sequence(s)

AC016182, AC061992

Consensus CDS

CCDS11757.2

UniProtKB/Swiss-Prot

O00431, O15206, Q2M2Y1, Q6ZRQ2, Q8N7Q7, Q9UFH2

Related

ENSP00000374490.6, ENST00000389840.7

Conserved Domains (8) summary

pfam12775
Location:2416 → 2687

AAA_7; P-loop containing dynein motor region D3

pfam12780
Location:2764 → 3031

AAA_8; P-loop containing dynein motor region D4

pfam03028
Location:3765 → 4459

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:190 → 767

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1276 → 1675

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12781
Location:3413 → 3627

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1809 → 2039

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

cl25937
Location:3043 → 3386

MT; Microtubule-binding stalk of dynein motor

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

78423697..78577396 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024451013.2 → XP_024306781.1 dynein axonemal heavy chain 17 isoform X2

Conserved Domains (8) summary

pfam12775
Location:2368 → 2639

AAA_7; P-loop containing dynein motor region D3

pfam12780
Location:2716 → 2983

AAA_8; P-loop containing dynein motor region D4

pfam03028
Location:3717 → 4415

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:190 → 767

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1228 → 1627

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12781
Location:3365 → 3579

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1761 → 1991

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

cl25937
Location:2995 → 3338

MT; Microtubule-binding stalk of dynein motor
XM_011525416.3 → XP_011523718.1 dynein axonemal heavy chain 17 isoform X1

Conserved Domains (8) summary

pfam03028
Location:3766 → 4456

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:189 → 767

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1272 → 1676

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12775
Location:2416 → 2687

AAA_7; P-loop containing dynein motor region D3

pfam12777
Location:3043 → 3386

MT; Microtubule-binding stalk of dynein motor

pfam12780
Location:2764 → 3031

AAA_8; P-loop containing dynein motor region D4

pfam12781
Location:3413 → 3626

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1809 → 2039

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_047436981.1 → XP_047292937.1 dynein axonemal heavy chain 17 isoform X3
XM_024451014.2 → XP_024306782.1 dynein axonemal heavy chain 17 isoform X4

Conserved Domains (6) summary

pfam12775
Location:2416 → 2687

AAA_7; P-loop containing dynein motor region D3

pfam08385
Location:190 → 767

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1276 → 1675

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12781
Location:3413 → 3509

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:2764 → 3031

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

cl25937
Location:3043 → 3386

MT; Microtubule-binding stalk of dynein motor