2. Gene
  3. CLPTM1 - CLPTM1 regulator of GABA type A receptor forward trafficking Gene

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

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

中文名称：GABA A 型受体前向运输的 CLPTM1 调节器

种属: Homo sapiens

基因 ID: 1209 | 基因类型: protein coding

关于 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.

功能概要

预测参与调节胸腺中的 T 细胞分化。位于膜内。 [由基因组资源联盟提供，2022 年 4 月]

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

CLPTM1 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21903422 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CLPTM1 蛋白结构

CLPTM1

CLPTM1: Cleft lip and palate transmembrane protein 1 (CLPTM1) (52 - 497)

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

putative lipid scramblase CLPTM1

CLPTM1, transmembrane protein

CLPTM1 抗体

目录号 产品名 应用 反应物种
HY-P82776 CLPTM1 Antibody (YA2521) WB, IP Human

关联疾病

疾病名称 别名
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
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02833 CLPTM1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS02834 CLPTM1L Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21997 Clptm1l Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28514 Clptm1l Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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