DNAH17 - dynein axonemal heavy chain 17 Gene

Also Known as DNEL2; DNAHL1; SPGF39

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8632

About DNAH17

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,423,697-78,577,396 (from NCBI)

This gene has 10 transcripts (splice variants), 233 orthologues, 15 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 7.4), brain (RPKM 1.0) and 4 other tissues.

Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]

DNAH17 Products (1)

mRNA Protein Name
NM_173628.4 NP_775899.3 dynein axonemal heavy chain 17

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Verweise Source
involved in outer dynein arm assembly IDA
IDA: Inferred from direct assay
31178125 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in axoneme IDA
IDA: Inferred from direct assay
31178125 GOA
part of outer dynein arm IDA
IDA: Inferred from direct assay
31178125 GOA
located in sperm flagellum IDA
IDA: Inferred from direct assay
31178125 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

DNAH17 Protein Structure

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (186 - 768)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1263 - 1675)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1795 - 2025)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2110 - 2244)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2402 - 2673)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2750 - 3017)

MT

MT: Microtubule-binding stalk of dynein motor (3029 - 3372)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3390 - 3617)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3746 - 4484)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4200
  • 4485 a.a.
Protein Preferred Names Protein Names

dynein axonemal heavy chain 17

  • axonemal beta dynein heavy chain 17

Related Diseases

Diseases Alias
Spermatogenic Failure 39

  • SPGF39
Non-Syndromic Male Infertility Due To Sperm Motility Disorder

  • Non-Syndromic Male Infertility Due Asthenozoospermia
Pontocerebellar Hypoplasia, Type 2d

  • Pontocerebellar Hypoplasia Type 2d

  • Pcca

  • PCH2D

  • Progressive Cerebello-Cerebral Atrophy

  • Cerebellocerebral Atrophy, Progressive

  • Pontocerebellar Hypoplasia 2d

  • Progressive Cerebellocerebral Atrophy

  • Hypoplasia, Pontocerebellar, Type 2d
Infertility
Spermatogenic Failure

  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism
Spermatogenic Failure 9

  • Male Infertility Due To Globozoospermia

  • SPGF9

  • Male Infertility Due To Round-Headed Spermatozoa

  • Globozoospermia, Complete

  • Globozoospermia, Total

  • Globozoospermia

  • Globozoospermia Syndrome

  • Round-Headed Sperm Syndrome

  • Globozoospermia Complete

  • Globozoospermia Total
Tylosis With Esophageal Cancer

  • Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome

  • TOC

  • Keratosis Palmaris Et Plantaris With Esophageal Cancer

  • Bennion-Patterson Syndrome

  • Howell-Evans Syndrome

  • Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome

  • Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome

  • Tylosis-Oesophageal Carcinoma Syndrome

  • Palmoplantar Keratoderma With Esophageal Cancer

  • Howel-Evans Syndrome

  • Keratosis Palmoplantaris With Esophageal Cancer

  • Tylosis - Oesophageal Carcinoma

  • Howel-Evans' Syndrome
Pelvic Varices

  • Varix Of Pelvis

  • Pelvic Varicose Vein
Primary Ciliary Dyskinesia

  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary
Visceral Heterotaxy

  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome
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)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS03847 DNAH17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus DNAH17 MGD MGI:1917176
Rattus norvegicus DNAH17 RGD RGD:1563805
Canis familiaris DNAH17 VGNC VGNC:40014
Bos taurus DNAH17 VGNC VGNC:28124
Others DNAH17 NCBI