2. Gene
  3. TAPT1 - transmembrane anterior posterior transformation 1 Gene

TAPT1 - transmembrane anterior posterior transformation 1 Gene

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

中文名称：跨膜前后变换 1

种属: Homo sapiens

同用名: CMVFR; OCLSBG

基因 ID: 202018 | 基因类型: protein coding

关于 TAPT1

Cytogenetic location: 4p15.32 Genomic coordinates (GRCh38): 4:16,160,505-16,227,390 (from NCBI)

This gene has 17 transcripts (splice variants), 276 orthologues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.8), testis (RPKM 8.7) and 25 other tissues.

功能概要

该基因编码一种高度保守的蛋白质，定位于中心体和/或睫状基体。该基因的突变破坏了高尔基体的形态和运输以及正常的初级纤毛形成，并且这些突变先天性地表现为子宫内骨骼的严重矿化不足。该基因的小鼠直系同源物中的突变导致轴向骨架的同源异型、从后到前转变，这与小鼠同源盒 C8 基因突变体的表型相似。在小鼠中，该基因被认为在同源框 C8 的下游起作用，以在轴向骨骼发育过程中转导细胞外模式信息。[RefSeq 提供，2017 年 1 月]

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

TAPT1 基因产物(1)

mRNA Protein Name
NM_153365.3 NP_699196.2 transmembrane anterior posterior transformation protein 1 homolog

TAPT1 蛋白结构

DUF747

DUF747: Eukaryotic membrane protein family (153 - 461)

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  • 500
  • 567 a.a.
蛋白主名 其他名称

transmembrane anterior posterior transformation protein 1 homolog

cytomegalovirus partial fusion receptor

关联疾病

疾病名称 别名
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type

Complex Lethal Osteochondrodysplasia

OCLSBG

Complex Lethal Osteochondrodysplasia, Symoens-Barnes-Gistelinck Type
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv
Conjunctival Folliculosis

Acute Follicular Conjunctivitis
Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14205 TAPT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus TAPT1 MGD MGI:2683537
Macaca mulatta TAPT1 VGNC VGNC:78222
Bos taurus TAPT1 VGNC VGNC:35601
Rattus norvegicus TAPT1 RGD RGD:1309656
Felis catus TAPT1 VGNC VGNC:80013
Canis familiaris TAPT1 VGNC VGNC:53245
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