TAPT1 - transmembrane anterior posterior transformation 1 Gene

Also Known as CMVFR; OCLSBG

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 202018

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 References Source
involved in positive regulation of cilium assembly IDA
IDA: Inferred from direct assay
26365339 GOA
Cellular Component GO Annotation Evidence References 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

DUF747: Eukaryotic membrane protein family (153 - 461)

  • 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

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 Set / 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
Others TAPT1 NCBI