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

Homo sapiens

Gene ID: 1209 | Gene type: protein coding

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

CLPTM1 Protein Structure

CLPTM1

0
200
400
600
669 a.a.

Protein Preferred Names

Protein Names

putative lipid scramblase CLPTM1

CLPTM1, transmembrane protein

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

Bioactive Molecules (2)

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

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