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  2. CLPTM1L - CLPTM1 like Gene

CLPTM1L - CLPTM1 like Gene

中文名称:CLPTM1 样

种属: Homo sapiens

同用名: CRR9

基因 ID: 81037 | 基因类型: protein coding

关于 CLPTM1L

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,317,752-1,345,099 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 268 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 35.1), thyroid (RPKM 34.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种膜蛋白,其在顺铂敏感细胞中的过度表达会导致细胞凋亡。据报道,该基因的多态性会增加对多种癌症的易感性,包括肺癌、胰腺癌和乳腺癌。[RefSeq 提供,2015 年 11 月]

The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes Apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]

CLPTM1L 基因产物(1)

mRNA Protein Name
NM_030782.5 NP_110409.2 lipid scramblase CLPTM1L
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phospholipid scramblase activity IDA
IDA: 通过直接分析推断
35344438 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
35344438 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

CLPTM1L 蛋白结构

CLPTM1

CLPTM1: Cleft lip and palate transmembrane protein 1 (CLPTM1) (10 - 421)

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  • 538 a.a.
蛋白主名 其他名称

lipid scramblase CLPTM1L

cleft lip and palate transmembrane protein 1-like protein

CLPTM1-like protein

CLPTM1L 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLPTM1L Q96KA5 KCNF1 Homo sapiens Q9H3M0 32296183
种属内
CLPTM1L Q96KA5 KCNF1 Homo sapiens Q9H3M0 32296183
种属内
CLPTM1L Q96KA5 KCNF1 Homo sapiens Q9H3M0 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

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

Testicular Germ Cell Cancer

Germ Cell Tumor Of Testis

Testicular Germ Cell Tumor

Testicular Germ Cell Neoplasm

Testicular Malignant Germ Cell Tumor

Orofacial Cleft

Cleft, Orofacial

Testicular Disease

Testicular Dysfunction

Testicular Diseases

Disorder Of Testis

Testis Disorder

Testicular Disorders

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

Testicular Cancer

Testis Cancer

Testicular Carcinoma

Testicular Neoplasms

Malignant Neoplasm Of Testis

Childhood Neoplasm Of The Testis

Neoplasm Of Testis

Pediatric Testicular Neoplasm

Testicular Tumor

Testis Neoplasm

Testicular Tumors

Testicular Neoplasm

Testicular Malignant Germ Cell Tumor

Childhood Testicular Neoplasm

Carcinoma Of The Testis

Cancer Of Testis

Malignant Neoplasm Of Testis, Nos

Malignant Neoplasm Of Testis, Unspecified

Malignant Tumour Of Testis

Testicle Cancer

Primary Malignant Neoplasm Of Testis

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CLPTM1L MGD MGI:2442892
Canis familiaris CLPTM1L VGNC VGNC:39358
Rattus norvegicus CLPTM1L RGD RGD:1307896
Felis catus CLPTM1L VGNC VGNC:60975
Macaca mulatta CLPTM1L VGNC VGNC:71333
Bos taurus CLPTM1L VGNC VGNC:27461