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

HOOK1 - hook microtubule tethering protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钩微管束缚蛋白 1

种属: Homo sapiens

同用名: HK1

基因 ID: 51361 | 基因类型: protein coding

关于 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.

功能概要

该基因编码卷曲螺旋蛋白 hook 家族的一个成员，它们分别通过 N 端和 C 端结构域与微管和细胞器结合。编码的蛋白质定位于离散的点状亚细胞结构，并与参与内吞作用的 Rab GTPase 家族的几个成员相互作用。人们认为将内吞膜运输与微管细胞骨架联系起来。已经确定了几种可变剪接的转录本变体，但尚未确定其中一些变体的全长性质。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

HOOK1 蛋白结构

HOOK

HOOK: HOOK protein (9 - 727)

  • 0
  • 200
  • 400
  • 600
  • 728 a.a.
蛋白主名 其他名称

protein Hook homolog 1

h-hook1

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06287 HOOK1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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