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    DNHD1 dynein heavy chain domain 1 [ Homo sapiens (human) ]

    Gene ID: 144132, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DNHD1provided by HGNC
    Official Full Name
    dynein heavy chain domain 1provided by HGNC
    Primary source
    HGNC:HGNC:26532
    See related
    Ensembl:ENSG00000179532 MIM:617277; AllianceGenome:HGNC:26532
    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
    DHCD1; CCDC35; DNHD1L; SPGF65; C11orf47
    Summary
    Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Involved in sperm flagellum assembly. Located in sperm flagellum. Implicated in spermatogenic failure 65. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 7.9), spleen (RPKM 1.7) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNHD1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6497280..6572020)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6555758..6630491)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6518510..6593250)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:6502154-6503353 Neighboring gene translocase of inner mitochondrial membrane 10B Neighboring gene voltage dependent anion channel 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6589123-6589980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6592335-6592842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6607422-6608410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6608411-6609399 Neighboring gene Sharpr-MPRA regulatory region 2811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6624079-6624620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4347 Neighboring gene Sharpr-MPRA regulatory region 730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6632062-6632650 Neighboring gene ribosomal RNA processing 8 Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene integrin linked kinase

    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. New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella. Martinez G, et al. Int J Mol Sci, 2023 Jan 29. PMID 36768883, Free PMC Article
    2. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Tan C, et al. Am J Hum Genet, 2022 Jan 6. PMID 34932939, Free PMC Article
    3. Polo-like kinase1 is required for recruitment of dynein to kinetochores during mitosis. Bader JR, et al. J Biol Chem, 2011 Jun 10. PMID 21507953, Free PMC Article
    4. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. Jikuya H, et al. DNA Res, 2003 Feb 28. PMID 12693554
    5. GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. Rentería ME, et al. Twin Res Hum Genet, 2013 Aug. PMID 23725790

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
      Title: New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
    2. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
      Title: Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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 65
    MedGen: C5562067 OMIM: 619712 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    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

    • FLJ00251, FLJ32752, FLJ35709, FLJ39625, FLJ43897, FLJ46184, MGC133191, DKFZp434G0812, DKFZp686J0796, DKFZp686N1238

    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 minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    part_of inner 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 

    General protein information

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    Preferred Names
    dynein heavy chain domain-containing protein 1
    Names
    DNHD1 variant protein
    coiled-coil domain containing 35
    coiled-coil domain-containing protein 35
    dynein heavy chain domain 1-like protein

    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_144666.3 → NP_653267.2  dynein heavy chain domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_653267.2

      Status: VALIDATED

      Source sequence(s)
      AC009796, AC084337
      Consensus CDS
      CCDS44532.1
      UniProtKB/Swiss-Prot
      Q2NKK8, Q6UWI9, Q8NAA2, Q8TEE6, Q96M86, Q9NSZ9
      UniProtKB/TrEMBL
      B0I1S4
      Related
      ENSP00000254579.6, ENST00000254579.11
      Conserved Domains (5) summary
      pfam03028
      Location:3979 → 4741
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:1019 → 1467
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3193 → 3467
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3664 → 3802
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1649 → 1867
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_173589.4 → NP_775860.3  dynein heavy chain domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_775860.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' splice pattern that results in a substantially shorter transcript, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus that lacks DHC_N2 and dynein heavy chain domains, compared to isoform 1.
      Source sequence(s)
      AC084337, AK093028, BC111765, BF509041, BX648742, DB099871
      Consensus CDS
      CCDS7767.1
      UniProtKB/Swiss-Prot
      Q96M86
      Related
      ENSP00000346716.3, ENST00000354685.7
      Conserved Domains (1) summary
      COG3629
      Location:403 → 477
      DnrI; DNA-binding transcriptional activator of the SARP family [Signal transduction mechanisms]

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      6497280..6572020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      6555758..6630491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M86.2 GenPept UniProtKB/Swiss-Prot:Q96M86

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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