TAPT1 - transmembrane anterior posterior transformation 1 Gene

Homo sapiens

Also known as CMVFR; OCLSBG

Gene ID: 202018 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of cilium assembly	IDA IDA: Inferred from direct assay	26365339	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	26365339	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	26365339	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

TAPT1 Protein Structure

DUF747

0
100
200
300
400
500
567 a.a.

Protein Preferred Names

Protein Names

transmembrane anterior posterior transformation protein 1 homolog

cytomegalovirus partial fusion receptor

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14205	TAPT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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