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

Gene ID: 8632, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See DNAH17 in Genome Data Viewer
Location:
17q25.3
Exon count:
81
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78423697..78577396, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (79317211..79471915, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76419778..76573478, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76367859-76368426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76368427-76368994 Neighboring gene SOCS3 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76374619-76375580 Neighboring gene RNA, 7SL, cytoplasmic 236, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12894 Neighboring gene small nucleolar RNA SNORA30/SNORA37 family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76396609-76397114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76406789-76407334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76407335-76407878 Neighboring gene phosphatidylglycerophosphate synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12895 Neighboring gene Sharpr-MPRA regulatory region 14012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76413655-76414163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76415673-76416357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76418631-76419210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76422004-76422504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76422505-76423005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76433212-76433840 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76446189-76446410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76446540-76447118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76461956-76462618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76463282-76463943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9069 Neighboring gene DNAH17 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:76489132-76490331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76493472-76494020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76494021-76494569 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:76502868-76504067 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:76506209-76507408 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76521839-76522454 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:76528450-76529649 Neighboring gene uncharacterized LOC124904065 Neighboring gene RNA, 7SL, cytoplasmic 454, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:76554009-76555208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76576879-76577380 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:76583208-76583369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76584370-76584882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76584883-76585395 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76614363-76614864 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:76614865-76615364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76618411-76619402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76622057-76622556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76627973-76628474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76641825-76642326 Neighboring gene uncharacterized LOC124904066 Neighboring gene S-phase cancer associated transcript 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella. Liu Z, et al. Andrologia, 2022 Nov. PMID 35932098
  2. A potential human axonemal dynein heavy-chain gene maps to 17q25. Milisav I, et al. Mamm Genome, 1998 May. PMID 9545504
  3. The association between methylation patterns of DNAH17 and clinicopathological factors in hepatocellular carcinoma. Fan X, et al. Cancer Med, 2019 Jan. PMID 30575322, Free PMC Article
  4. DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella. Sha Y, et al. Ann Hum Genet, 2020 May. PMID 31841227
  5. Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects. Song B, et al. J Genet Genomics, 2020 Nov 20. PMID 33423959

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
    Title: A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.
  7. 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.
  8. 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.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
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
Spermatogenic failure 39
MedGen: C5231438 OMIM: 618643 GeneReviews: Not available
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EBI GWAS Catalog

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

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

Homology

Clone Names

  • FLJ40457, MGC132767, MGC138489

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)

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    78423697..78577396 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_047436981.1 → XP_047292937.1  dynein axonemal heavy chain 17 isoform X3

  4. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    79317211..79471915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317645.1 → XP_054173620.1  dynein axonemal heavy chain 17 isoform X2

  2. XM_054317644.1 → XP_054173619.1  dynein axonemal heavy chain 17 isoform X1

  3. XM_054317646.1 → XP_054173621.1  dynein axonemal heavy chain 17 isoform X3

  4. XM_054317647.1 → XP_054173622.1  dynein axonemal heavy chain 17 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003727.1: Suppressed sequence

    Description
    NM_003727.1: This RefSeq was permanently suppressed because the CDS was partial.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UFH2.3 GenPept UniProtKB/Swiss-Prot:Q9UFH2

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