CLIP1 - CAP-Gly domain containing linker protein 1 Gene

Homo sapiens

Also known as RSN; CLIP; CYLN1; CLIP170; CLIP-170

Gene ID: 6249 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

CAP_GLY

0
300
600
900
1200
1438 a.a.

Protein Preferred Names

Protein Names

CAP-Gly domain-containing linker protein 1

cytoplasmic linker protein 1

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-156467A	ALK-IN-27 TFA	Inhibitor	/	Unkown
HY-156467	ALK-IN-27	Inhibitor	99.90%	Unkown
HY-RS02810	CLIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.