CLPTM1L - CLPTM1 like Gene

Also Known as CRR9

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 81037

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_030782.5 NP_110409.2 lipid scramblase CLPTM1L
Molecular Function GO Annotation Evidence 参考文献 由来
enables phospholipid scramblase activity IDA
IDA: Inferred from direct assay
35344438 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
35344438 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

CLPTM1L Protein Structure

CLPTM1

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

  • 0
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  • 500
  • 538 a.a.
Protein Preferred Names Protein Names

lipid scramblase CLPTM1L

cleft lip and palate transmembrane protein 1-like protein

  • CLPTM1-like protein

CLPTM1L Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
CLPTM1L Q96KA5 KCNF1 Homo sapiens Q9H3M0 32296183
Intra
CLPTM1L Q96KA5 KCNF1 Homo sapiens Q9H3M0 32296183
Intra
CLPTM1L Q96KA5 KCNF1 Homo sapiens Q9H3M0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

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

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

Orthologs Information

生物種 Symbol 由来 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
Others CLPTM1L NCBI