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CLPTM1 - CLPTM1 regulator of GABA type A receptor forward trafficking Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1209

About CLPTM1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:44,954,585-44,993,341 (from NCBI)

This gene has 12 transcripts (splice variants), 195 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 40.5), brain (RPKM 32.5) and 25 other tissues.

Summary

Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

CLPTM1 Products (3)

mRNA	Protein	Name
NM_001282175.2	NP_001269104.1	putative lipid scramblase CLPTM1 isoform 3
NM_001282176.2	NP_001269105.1	putative lipid scramblase CLPTM1 isoform 4
NM_001294.4	NP_001285.1	putative lipid scramblase CLPTM1 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21903422	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLPTM1 Protein Structure

CLPTM1

0
200
400
600
669 a.a.

Protein Preferred Names	Protein Names
putative lipid scramblase CLPTM1	CLPTM1, transmembrane protein

CLPTM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82776	CLPTM1 Antibody (YA2521)	WB, IP	Human
HY-P82776A	CLPTM1 Antibody (YA2521)(PBS only)	WB, IP	Human

Related Diseases

Diseases	Alias
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Dyskeratosis Congenita, Autosomal Dominant 2	Autosomal Recessive Dyskeratosis Congenita 4 DKCA2 Autosomal Dominant Dyskeratosis Congenita 2 DKCB4 Dyskeratosis Congenita, Autosomal Dominant, 2 Dyskeratosis Congenita Scoggins Type Dyskeratosis Congenita, Autosomal Recessive, 4 Dyskeratosis Congenita, Autosomal Recessive 4 Dyskeratosis Congenita, Autosomal Dominant, Type 2
Orofacial Cleft 15	OFC15 Non-Syndromic Orofacial Cleft 15
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Orofacial Cleft 7 Zlotogora-Ogur Syndrome CLPED1 Ectodermal Dysplasia, Margarita Island Type Ed4 Cleft Lip-Palate-Ectodermal Dysplasia Syndrome Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate Ectodermal Dysplasia 4 Ectodermal Dysplasia Margarita Type Ectodermal Dysplasia, Type 4 Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly Margarita Type Of Ectodermal Dysplasia Zlotogora-Zilberman-Tenenbaum Syndrome Ectd4 Ectodermal Dysplasia 4, Hair/Nail Type EDMI Ectodermal Dysplasia Type 4 Margarita Island Ectodermal Dysplasia Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate Non-Syndromic Orofacial Cleft 7 OFC7 Non-Syndromic Cleft Lip/Palate 7 Non-Syndromic Cleft Lip With Or Without Cleft Palate 7
Ogden Syndrome	OGDNS N-Terminal Acetyltransferase Deficiency NATD N-Alpha-Acetyltransferase X-Linked Malformation And Infantile Lethality Syndrome Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome
Orofacial Cleft 5	OFC5 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 5 Nonsyndromic Cleft Lip With Or Without Cleft Palate 5 Non-Syndromic Orofacial Cleft 5 Non-Syndromic Cleft Lip/Palate 5 Non-Syndromic Cleft Lip With Or Without Cleft Palate 5 Orofacial Cleft, Type 5
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Fibrolamellar Carcinoma	Fibrolamellar Hepatocellular Carcinoma Fhcc Fibrolamellar Hepatocarcinoma Hepatocellular Carcinoma, Fibrolamellar Oncocytic Hepatocellular Tumor Eosinophilic Glassy Cell Hepatoma Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis Fl-Hcc Fibrolamellar Oncocytic Hepatoma Hepatocellular Carcinoma With Increased Stromal Fibrosis Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma
Orofacial Cleft	Cleft, Orofacial

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02833	CLPTM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02834	CLPTM1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21997	Clptm1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28514	Clptm1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CLPTM1	VGNC	VGNC:60974
Canis familiaris	CLPTM1	VGNC	VGNC:39357
Macaca mulatta	CLPTM1	VGNC	VGNC:71265
Rattus norvegicus	CLPTM1	RGD	RGD:1310959
Mus musculus	CLPTM1	MGD	MGI:1927155
Bos taurus	CLPTM1	VGNC	VGNC:27460
Others	CLPTM1	NCBI