1. Gene
  2. HOOK3 - hook microtubule tethering protein 3 Gene

HOOK3 - hook microtubule tethering protein 3 Gene

Homo sapiens

Also known as HK3

Gene ID: 84376 | Gene type: protein coding

About HOOK3

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,896,978-43,030,535 (from NCBI)

This gene has 6 transcripts (splice variants), 217 orthologues, 5 paralogues and is associated with 77 phenotypes. Ubiquitous expression in thyroid (RPKM 6.6), fat (RPKM 4.5) and 25 other tissues.

Summary

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

HOOK3 Products(1)

mRNA Protein Name
NM_032410.4 NP_115786.1 protein Hook homolog 3

HOOK3 Protein Structure

HOOK

HOOK: HOOK protein (6 - 717)

  • 0
  • 200
  • 400
  • 600
  • 718 a.a.
Protein Preferred Names Protein Names

protein Hook homolog 3

h-hook3

Related Diseases

Diseases Alias
Small Intestine Neuroendocrine Neoplasm

Small Intestine Neuroendocrine Tumor

Neuroendocrine Tumor Of The Small Intestine

Net Of The Small Intestine

Neuroendocrine Neoplasm Of The Small Intestine

Neuroendocrine Tumor Of Small Bowel

Small Intestinal Neuroendocrine Neoplasm

Dystonia 6, Torsion

DYT6

Torsion Dystonia 6

Dystonia 6

Idiopathic Torsion Dystonia Of Mixed Type

Primary Dystonia, Dyt6 Type

Torsion Dystonia, Adult-Onset, Mixed Type

Dyt-Thap1

Adolescent-Onset Dystonia Of Mixed Type

Torsion Dystonia Adult Onset Mixed Type

Dyt6 Dystonia

Thap1 Dystonia

Generalized Cervical And Upper-Limb-Onset Dystonia

Adult-Onset Torsion Dystonia Mixed Type

Autosomal Dominant Torsion Dystonia 6

Dystonia-6

Torsion Dystonia Type 6

Dystonia, Type 6, Torsion

Hermansky-Pudlak Syndrome 9

HPS9

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 9

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Small Intestine Benign Neoplasm

Neoplasm Of Small Intestine

Small Intestinal Neoplasm

Neoplasm Of The Small Intestine

Small Bowel Cancer

Small Intestine Cancer

Malignant Neoplasm Of Small Intestine, Unspecified

Malignant Tumour Of Small Bowel

Malignant Tumour Of Small Intestine

Primary Malignant Neoplasm Of Meckel Diverticulum

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

Kugelberg-Welander Syndrome, Autosomal Dominant

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

Sma-Led

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

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

Orthologs Information

Species Symbol Source ID
Mus musculus HOOK3 MGD MGI:2443554
Rattus norvegicus HOOK3 RGD RGD:1560960
Macaca mulatta HOOK3 VGNC VGNC:73433
Bos taurus HOOK3 VGNC VGNC:50090
Canis familiaris HOOK3 VGNC VGNC:41742
Felis catus HOOK3 VGNC VGNC:62834