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

    Gene ID: 1769, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See DNAH8 in Genome Data Viewer
    Location:
    6p21.2
    Exon count:
    97
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (38715311..39030792)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (38539868..38855176)
    RS_2024_09 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. Human V-ATPase gene can protect or predispose the host to pulmonary tuberculosis. Capparelli R, et al. Genes Immun, 2009 Oct. PMID 19536151
    3. 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
    4. 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
    5. A novel splicing variant in DNAH8 causes asthenozoospermia. Zhou Z, et al. J Assist Reprod Genet, 2021 Jun. PMID 33611675, Free PMC Article

    See all (31) 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)

    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_2024_08

    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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