1. Gene
  2. HOOK1 - hook microtubule tethering protein 1 Gene

HOOK1 - hook microtubule tethering protein 1 Gene

Homo sapiens

Also known as HK1

Gene ID: 51361 | Gene type: protein coding

About HOOK1

Cytogenetic location: 1p32.1 Genomic coordinates (GRCh38): 1:59,814,949-59,876,322 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues and 5 paralogues. Broad expression in testis (RPKM 15.7), colon (RPKM 10.0) and 21 other tissues.

Summary

This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule Cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

HOOK1 Products(1)

mRNA Protein Name
NM_015888.6 NP_056972.1 protein Hook homolog 1

HOOK1 Protein Structure

HOOK

HOOK: HOOK protein (9 - 727)

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

protein Hook homolog 1

h-hook1

Related Diseases

Diseases Alias
Spermatogenic Failure 16

SPGF16

Acephalic Spermatozoa Syndrome

Spermatozoa, Acephalic

Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome

Metanephric Adenoma
Renal Adenoma

Renal Cell Adenoma

Cranioectodermal Dysplasia 1

Sensenbrenner Syndrome

CED1

Levin Syndrome I

Cranio-Ectodermal Dysplasia

Dysplasia, Cranioectodermal, Type 1

Cranioectodermal Dysplasia

Ceroid Lipofuscinosis, Neuronal, 3

Batten Disease

Juvenile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis 3

CLN3

Jncl

Spielmeyer-Vogt Disease

Vogt-Spielmeyer Disease

Spielmeyer-Sjogren Disease

Cln3 Disease

Neuronal Ceroid Lipofuscinosis, Juvenile

Cln3 Disease, Juvenile

Spielmeyer Sjogren Disease

Vogt Spielmeyer Disease

Batten-Mayou Disease

Batten-Spielmeyer-Vogt Disease

Cln3-Related Neuronal Ceroid-Lipofuscinosis

Juvenile Batten Disease

Juvenile Cerebroretinal Degeneration

Classic Juvenile Ncl

Classic Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 3

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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 HOOK1 MGD MGI:1925213
Rattus norvegicus HOOK1 RGD RGD:1309987
Canis familiaris HOOK1 VGNC VGNC:41740
Macaca mulatta HOOK1 VGNC VGNC:73424
Bos taurus HOOK1 VGNC VGNC:29905
Felis catus HOOK1 VGNC VGNC:62832