1. Gene
  2. CERT1 - ceramide transporter 1 Gene

CERT1 - ceramide transporter 1 Gene

中文名称:神经酰胺转运体 1

种属: Homo sapiens

同用名: CERT; GPBP; CERTL; MRD34; STARD11; COL4A3BP

基因 ID: 10087 | 基因类型: protein coding

关于 CERT1

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:75,368,486-75,511,981 (from NCBI)

This gene has 29 transcripts (splice variants), 296 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 18.3), fat (RPKM 18.1) and 25 other tissues.

功能概要

该基因编码一种激酶,该激酶特异性磷酸化 IV 型胶原蛋白 alpha 3 链非胶原结构域的 N 末端区域,称为 Goodpasture 抗原。 Goodpasture 病是针对该抗原的自身免疫反应的结果。这种蛋白质的一种亚型也参与神经酰胺细胞内转运。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CERT1 基因产物(7)

mRNA Protein Name
NM_001130105.1 NP_001123577.1 ceramide transfer protein isoform 3
NM_001379002.1 NP_001365931.1 ceramide transfer protein isoform 1
NM_001379003.1 NP_001365932.1 ceramide transfer protein isoform 2
NM_001379004.1 NP_001365933.1 ceramide transfer protein isoform 4
NM_001379029.1 NP_001365958.1 ceramide transfer protein isoform 1
NM_005713.3 NP_005704.1 ceramide transfer protein isoform 1
NM_031361.3 NP_112729.1 ceramide transfer protein isoform 2

CERT1 蛋白结构

PH

PH: PH domain (24 - 114)

START

START: START domain (414 - 618)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 624 a.a.
蛋白主名 其他名称

ceramide transfer protein

StAR-related lipid transfer (START) domain containing 11

重组 CERT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76844 COL4A3BP Protein, Human (sf9, His-GST) Q9Y5P4 (M1-F598) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 34

MRD34

Mental Retardation, Autosomal Dominant 34

Autosomal Dominant Intellectual Developmental Disorder 34

Autosomal Dominant Mental Retardation 34

Autosomal Dominant Non-Syndromic Intellectual Disability 34

Mental Retardation, Autosomal Dominant, Type 34

Autosomal Recessive Alport Syndrome

Alport Syndrome, Recessive Type

Alport Syndrome, Autosomal Recessive

Alport Syndrome Autosomal Recessive

Alport Syndrome Recessive Type

Nephropathy And Deafness

Goodpasture Syndrome

Anti-Glomerular Basement Membrane Disease

Anti-Gbm Disease

Pulmonary Renal Syndrome

Anti-Glomerular Basement Membrane Antibody Disease

Glomerulonephritis - Pulmonary Hemorrhage

Rapidly Progressive Glomerulonephritis With Pulmonary Hemorrhage

Anti-Gbm Syndrome

Goodpasture'S Syndrome

Anti-Basement Membrane Glomerulonephritis

Patellofemoral Pain Syndrome
Lymphogranuloma Venereum

Climatic Or Tropical Bubo

Durand-Nicolas-Favre Disease

Lymphogranuloma Inguinale

Poradenitis Inguinale

Strumous Bubo

Lgv

Granuloma Inguinale

Donovanosis

Pudendal Ulcer

Granuloma Inguinale Tropicum

Granuloma Pudendi Tropicum

Autoimmune Disease Of Urogenital Tract
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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 CERT1 MGD MGI:1915268
Canis familiaris CERT1 VGNC VGNC:39475
Macaca mulatta CERT1 VGNC VGNC:71298
Felis catus CERT1 VGNC VGNC:61062
Bos taurus CERT1 VGNC VGNC:27566
Rattus norvegicus CERT1 RGD RGD:1309131
Others CERT1 NCBI