1. Gene
  2. DNHD1 - dynein heavy chain domain 1 Gene

DNHD1 - dynein heavy chain domain 1 Gene

中文名称:动力蛋白重链结构域 1

种属: Homo sapiens

同用名: DHCD1; CCDC35; DNHD1L; SPGF65; C11orf47

基因 ID: 144132 | 基因类型: protein coding

关于 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.

功能概要

预测启用动力蛋白中间链结合活性;动力蛋白轻链中间链结合活性;和负端定向微管运动活动。预测参与纤毛运动。位于细胞外外泌体。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in flagellated sperm motility IMP
IMP: 通过突变表型推断
34932939 GOA
involved in sperm flagellum assembly IMP
IMP: 通过突变表型推断
34932939 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in sperm flagellum IDA
IDA: 通过直接分析推断
34932939 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DNHD1 蛋白结构

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.
蛋白主名 其他名称

dynein heavy chain domain-containing protein 1

DNHD1 variant protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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