DNHD1 - dynein heavy chain domain 1 Gene

Also Known as DHCD1; CCDC35; DNHD1L; SPGF65; C11orf47

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 144132

About DNHD1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:6,497,280-6,572,020 (from NCBI)

This gene has 18 transcripts (splice variants), 177 orthologues, 15 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 7.9), spleen (RPKM 1.7) and 18 other tissues.

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]

DNHD1 Products (2)

mRNA Protein Name
NM_144666.3 NP_653267.2 dynein heavy chain domain-containing protein 1 isoform 1
NM_173589.4 NP_775860.3 dynein heavy chain domain-containing protein 1 isoform 2

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in flagellated sperm motility IMP
IMP: Inferred from mutant phenotype
34932939 GOA
involved in sperm flagellum assembly IMP
IMP: Inferred from mutant phenotype
34932939 GOA
Cellular Component GO Annotation Evidence References Source
located in sperm flagellum IDA
IDA: Inferred from direct assay
34932939 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNHD1 Protein Structure

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1015 - 1171)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1201 - 1468)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1649 - 1867)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2366 - 2600)

MT

MT: Microtubule-binding stalk of dynein motor (3225 - 3465)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3979 - 4743)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4753 a.a.
Protein Preferred Names Protein Names

dynein heavy chain domain-containing protein 1

  • DNHD1 variant protein

Related Diseases

Diseases Alias
Spermatogenic Failure 65

  • SPGF65
Spermatogenic Failure 5

  • Male Infertility With Large-Headed, Multiflagellar, Polyploid Spermatozoa

  • Infertility Associated With Multi-Tailed Spermatozoa And Excessive Dna

  • SPGF5

  • Macrocephalic Sperm Head Syndrome

  • Male Infertility Due To Macrozoospermia

  • Infertility Associated With Multitailed Spermatozoa And Excessive Dna

  • Macrozoospermia

  • Male Infertility Due To Large-Headed Multiflagellar Polyploid Spermatozoa

  • Infertility Associated With Multi-Tailed Spermatozoa And Excessive Deoxyribonucleic Acid

  • Large-Headed Multiflagellar Polyploid Spermatozoa

  • Male Infertility With Large-Headed Multiflagellar Polyploid Spermatozoa
Essential Tremor

  • Benign Essential Tremor

  • Familial Tremor

  • Hereditary Essential Tremor

  • Essential Hereditary Tremor

  • Shaky Hand Syndrome

  • Benign Essential Tremor Syndrome

  • Tremor Hereditary Essential

  • Essential Tremor, Susceptibility To

  • Tremor, Hereditary Essential
Pancreatic Squamous Cell Carcinoma
Spondylocostal Dysostosis 4, Autosomal Recessive

  • SCDO4

  • Spondylocostal Dysostosis 4

  • Autosomal Recessive Spondylocostal Dysostosis 4

  • Doid:0112364

  • Dysostosis, Spondylocostal, Autosomal Recessive, Type 4
Immunoglobulin A Deficiency 1

  • Immunoglobulin A Deficiency

  • Selective Iga Deficiency Disease

  • Selective Immunoglobulin A Deficiency

  • IGAD1

  • Immunoglobulin A, Selective Deficiency Of

  • Iga, Selective Deficiency Of

  • Gamma-A-Globulin, Selective Deficiency Of

  • Selective Iga Immunodeficiency

  • Selective Iga Deficiency

  • Iga Deficiency Selective
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03901 DNHD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta DNHD1 VGNC VGNC:107445
Felis catus DNHD1 VGNC VGNC:82389
Bos taurus DNHD1 VGNC VGNC:28140
Mus musculus DNHD1 MGD MGI:1924755
Canis familiaris DNHD1 VGNC VGNC:40030
Rattus norvegicus DNHD1 RGD RGD:1584052
Others DNHD1 NCBI