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

Gene ID: 144132, updated on 11-Apr-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. Predicted to be involved in cilium movement. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
11p15.4
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6497280..6572020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6555758..6630491)
105.20220307 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)

Genotypes

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_2023_10

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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