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DNAH8 dynein axonemal heavy chain 8 [ Homo sapiens (human) ]

Gene ID: 1769, updated on 11-Apr-2024

Summary

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Official Symbol
DNAH8provided by HGNC
Official Full Name
dynein axonemal heavy chain 8provided by HGNC
Primary source
HGNC:HGNC:2952
See related
Ensembl:ENSG00000124721 MIM:603337; AllianceGenome:HGNC:2952
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
hdhc9; ATPase; SPGF46
Summary
The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
Expression
Biased expression in testis (RPKM 4.6), prostate (RPKM 0.5) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.2
Exon count:
97
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (38715311..39030792)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (38539868..38855176)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (38683087..38998568)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:38649004-38649216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:38670063-38670655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17162 Neighboring gene Sharpr-MPRA regulatory region 13272 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:38690326-38691525 Neighboring gene glyoxalase I Neighboring gene DNAH8 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:38723390-38724589 Neighboring gene RNA, 7SL, cytoplasmic 465, pseudogene Neighboring gene DNAJC2 pseudogene 1 Neighboring gene small nucleolar RNA SNORA8 Neighboring gene DNAH8 antisense RNA 1 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39017241-39017741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39021877-39022378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39022379-39022878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:39041503-39042360 Neighboring gene glucagon like peptide 1 receptor Neighboring gene microRNA 9983

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. 'Rotor free-wheeling' in impaired F(1)F(O)-ATPase induces congenital hypermetabolism. Nesci S, et al. Trends Endocrinol Metab, 2023 Feb. PMID 36526552
  2. Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility. Weng M, et al. Acta Biochim Biophys Sin (Shanghai), 2021 Mar 26. PMID 33704367
  3. A novel splicing variant in DNAH8 causes asthenozoospermia. Zhou Z, et al. J Assist Reprod Genet, 2021 Jun. PMID 33611675, Free PMC Article
  4. Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella. Yang Y, et al. Clin Genet, 2020 Oct. PMID 32681648
  5. Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Watson CM, et al. Hum Mutat, 2014 Apr. PMID 24307375, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 'Rotor free-wheeling' in impaired F1FO-ATPase induces congenital hypermetabolism.
    Title: 'Rotor free-wheeling' in impaired F(1)F(O)-ATPase induces congenital hypermetabolism.
  2. A novel splicing variant in DNAH8 causes asthenozoospermia.
    Title: A novel splicing variant in DNAH8 causes asthenozoospermia.
  3. Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
    Title: Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
  4. Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
    Title: Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
  5. DNAH8 has a role in androgen receptor activity and prostate cancer progression
    Title: Dynein axonemal heavy chain 8 promotes androgen receptor activity and associates with prostate cancer progression.
  6. SNP genotyping of an affected proband with primary ciliary dyskinesia reveals homozygous nonsense variant in DNAH8 gene which can be a candidate for disease susceptibility.
    Title: Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis.
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 46
MedGen: C5436799 OMIM: 619095 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)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of dynein, axonemal, heavy chain 8 (DNAH8) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25850, FLJ36115, FLJ36334

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity 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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of axonemal dynein complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axoneme IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
part_of outer dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm flagellum IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
dynein axonemal heavy chain 8
Names
axonemal beta dynein heavy chain 8
ciliary dynein heavy chain 8
dynein heavy chain 8, axonemal
dynein, axonemal, heavy polypeptide 8

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

  1. NG_041805.1 RefSeqGene

    Range
    4971..320452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206927.2 → NP_001193856.1  dynein axonemal heavy chain 8 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF356519, AF527621, AL034345, AL035555, AL035690, AL353700, AL391415
    Consensus CDS
    CCDS75447.1
    UniProtKB/TrEMBL
    A0A075B6F3, H0Y7V4
    Related
    ENSP00000333363.7, ENST00000327475.11
    Conserved Domains (7) summary
    pfam03028
    Location:4014 → 4696
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:354 → 910
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1488 → 1891
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3282 → 3628
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3657 → 3873
    AAA_9; ATP-binding dynein motor region D5
    pfam15297
    Location:915 → 1047
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
    cl21455
    Location:2025 → 2256
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_001371.4 → NP_001362.2  dynein axonemal heavy chain 8 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL034345, AL035555, AL035690, AL353700, AL391415
    Consensus CDS
    CCDS4838.1
    UniProtKB/Swiss-Prot
    O00438, Q5JYI2, Q5T2M3, Q5T2M4, Q5TG00, Q96JB1, Q9UEM4
    UniProtKB/TrEMBL
    H0Y7V4
    Related
    ENSP00000352312.3, ENST00000359357.7
    Conserved Domains (5) summary
    pfam03028
    Location:3799 → 4486
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:139 → 693
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1275 → 1673
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam15297
    Location:698 → 830
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
    cl25937
    Location:1117 → 4138
    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

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    38715311..39030792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514319.3 → XP_011512621.1  dynein axonemal heavy chain 8 isoform X2

    UniProtKB/TrEMBL
    H0Y7V4
    Conserved Domains (7) summary
    pfam03028
    Location:3978 → 4660
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:354 → 910
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1488 → 1891
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3246 → 3592
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3621 → 3837
    AAA_9; ATP-binding dynein motor region D5
    pfam15297
    Location:915 → 1047
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
    cl21455
    Location:2962 → 3233
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. XM_011514318.3 → XP_011512620.1  dynein axonemal heavy chain 8 isoform X1

    UniProtKB/TrEMBL
    H0Y7V4
    Conserved Domains (7) summary
    pfam03028
    Location:3993 → 4675
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:354 → 910
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1467 → 1870
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3261 → 3607
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3636 → 3852
    AAA_9; ATP-binding dynein motor region D5
    pfam15297
    Location:915 → 1047
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
    cl21455
    Location:2004 → 2235
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_011514320.3 → XP_011512622.1  dynein axonemal heavy chain 8 isoform X3

    UniProtKB/TrEMBL
    H0Y7V4
    Conserved Domains (7) summary
    pfam03028
    Location:3935 → 4617
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:275 → 831
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1409 → 1812
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3203 → 3549
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3578 → 3794
    AAA_9; ATP-binding dynein motor region D5
    pfam15297
    Location:836 → 968
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
    cl21455
    Location:1946 → 2177
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. XM_017010325.2 → XP_016865814.1  dynein axonemal heavy chain 8 isoform X4

    UniProtKB/TrEMBL
    H0Y7V4

  5. XM_017010326.2 → XP_016865815.1  dynein axonemal heavy chain 8 isoform X5

    UniProtKB/TrEMBL
    H0Y7V4
    Related
    ENSP00000415331.2, ENST00000449981.6

  6. XM_017010327.2 → XP_016865816.1  dynein axonemal heavy chain 8 isoform X6

  7. XM_047418259.1 → XP_047274215.1  dynein axonemal heavy chain 8 isoform X7

RNA

  1. XR_926078.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    38539868..38855176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354407.1 → XP_054210382.1  dynein axonemal heavy chain 8 isoform X2

  2. XM_054354406.1 → XP_054210381.1  dynein axonemal heavy chain 8 isoform X1

  3. XM_054354408.1 → XP_054210383.1  dynein axonemal heavy chain 8 isoform X3

  4. XM_054354409.1 → XP_054210384.1  dynein axonemal heavy chain 8 isoform X4

  5. XM_054354410.1 → XP_054210385.1  dynein axonemal heavy chain 8 isoform X5

  6. XM_054354411.1 → XP_054210386.1  dynein axonemal heavy chain 8 isoform X6

  7. XM_054354412.1 → XP_054210387.1  dynein axonemal heavy chain 8 isoform X7

RNA

  1. XR_008487273.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JB1.2 GenPept UniProtKB/Swiss-Prot:Q96JB1

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