2. Gene
  3. CLIP1 - CAP-Gly domain containing linker protein 1 Gene

CLIP1 - CAP-Gly domain containing linker protein 1 Gene

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

中文名称：含 CAP-Gly 结构域的接头蛋白 1

种属: Homo sapiens

同用名: RSN; CLIP; CYLN1; CLIP170; CLIP-170

基因 ID: 6249 | 基因类型: protein coding

关于 CLIP1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,271,469-122,422,956 (from NCBI)

This gene has 20 transcripts (splice variants), 318 orthologues, 4 paralogues and is associated with 79 phenotypes. Ubiquitous expression in thyroid (RPKM 36.8), esophagus (RPKM 33.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质将内吞囊泡与微管连接起来。该基因在霍奇金病的 Reed-Sternberg 细胞中高度表达。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2011 年 10 月]

The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

CLIP1 基因产物(4)

mRNA Protein Name
NM_001247997.2 NP_001234926.1 CAP-Gly domain-containing linker protein 1 isoform c
NM_001389291.1 NP_001376220.1 CAP-Gly domain-containing linker protein 1 isoform d
NM_002956.3 NP_002947.1 CAP-Gly domain-containing linker protein 1 isoform a
NM_198240.3 NP_937883.1 CAP-Gly domain-containing linker protein 1 isoform b

CLIP1 蛋白结构

CAP_GLY

CAP_GLY: CAP-Gly domain (60 - 124)

CAP_GLY

CAP_GLY: CAP-Gly domain (214 - 278)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1438 a.a.
蛋白主名 其他名称

CAP-Gly domain-containing linker protein 1

cytoplasmic linker protein 1

关联疾病

疾病名称 别名
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS
Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B

Hmn Viib

Dhmn7b

Neuropathy, Distal Hereditary Motor, Type Viib

Distal Hereditary Motor Neuronopathy Type 7b

Distal Hereditary Motor Neuropathy Type Viib

Neuronopathy, Distal Hereditary Motor, Type 7b

Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib

Lower Motor Neuron Disease, Dynactin Type

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b

Harper-Young Myopathy

Neuronopathy, Distal Hereditary Motor, 7b

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib

Lower Motor Neuron Disease Dynactin Type

Plmnd

Progressive Lower Motor Neuron Disease

Neuropathy, Motor, Distal, Hereditary, Type Viib
Distal Hereditary Motor Neuronopathy Type 7

Dhmn7

Dhmnvpy

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability
Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-156467A Neladalkib TFA Inhibitor / 否
HY-156467 Neladalkib Inhibitor 99.90% 否
HY-RS02810 CLIP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CLIP1 RGD RGD:67404
Canis familiaris CLIP1 VGNC VGNC:39343
Felis catus CLIP1 VGNC VGNC:60961
Bos taurus CLIP1 VGNC VGNC:27444
Macaca mulatta CLIP1 VGNC VGNC:71166
Mus musculus CLIP1 MGD MGI:1928401
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