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,... See more...

Aliases for TAPT1 Gene

Aliases for TAPT1 Gene

  • Transmembrane Anterior Posterior Transformation 1 2 3 5
  • Transmembrane Anterior Posterior Transformation Protein 1 Homolog 3 4
  • Cytomegalovirus Partial Fusion Receptor 3 4
  • CMVFR 3 4
  • FLJ90013 2
  • OCLSBG 3
  • TAPT1 5

External Ids for TAPT1 Gene

Previous GeneCards Identifiers for TAPT1 Gene

  • GC04M015772
  • GC04M015511

Summaries for TAPT1 Gene

Entrez Gene Summary for TAPT1 Gene

  • 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]

GeneCards Summary for TAPT1 Gene

TAPT1 (Transmembrane Anterior Posterior Transformation 1) is a Protein Coding gene. Diseases associated with TAPT1 include Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type and Microcephalic Osteodysplastic Primordial Dwarfism, Type I. Gene Ontology (GO) annotations related to this gene include growth hormone-releasing hormone receptor activity.

UniProtKB/Swiss-Prot Summary for TAPT1 Gene

  • Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity).
  • (Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAPT1 Gene

Genomics for TAPT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TAPT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J016222 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 262.9 +1.4 1447 6.5 MYC IKZF1 ATF2 CEBPA ATF3 POLR2A YY1 NONO SMAD5 SIN3A TAPT1 TAPT1-AS1 lnc-PROM1-4 piR-52233 piR-57491 PROM1 FGFBP2 piR-41306-198
GH04J016140 Enhancer 1 Ensembl ENCODE 17.9 +86.0 86018 4.4 CEBPA JUND NFIC CEBPB HOMEZ EP300 FOXA2 KDM6A SMAD4 SAP130 PROM1 TAPT1 TAPT1-AS1 ENSG00000249234 HSALNG0033083 piR-46847-166
GH04J016196 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 12.3 +30.7 30663 1.3 CTCF ELF1 FOXA1 RAD21 IKZF1 PKNOX1 SPI1 ZNF143 IKZF2 RUNX3 TAPT1 TAPT1-AS1 LOC107986187 HSALNG0033092 lnc-PROM1-4 PROM1
GH04J016042 Enhancer 0.8 Ensembl dbSUPER 11.5 +183.3 183310 1.4 JUND FEZF1 RXRA ZNF843 PRDM6 GATA3 FOXA1 PRDM4 NFIA TRIM28 TAPT1 piR-53431-512 RF00026-743 PROM1 FGFBP2
GH04J016254 Enhancer 0.8 Ensembl ENCODE 11.9 -26.4 -26391 1.6 JUND FOXA2 SMAD4 BCL6 NR2F6 ZNF644 PPARG POLR2A SOX13 EP300 TAPT1 TAPT1-AS1 lnc-TAPT1-1 LDB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAPT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAPT1

Top Transcription factor binding sites by QIAGEN in the TAPT1 gene promoter:
  • AML1a
  • ARP-1
  • c-Myc
  • C/EBPalpha
  • CHOP-10
  • Lhx3a
  • LHX3b
  • Max
  • Nkx6-1

Genomic Locations for TAPT1 Gene

Latest Assembly
chr4:16,160,505-16,227,410
(GRCh38/hg38)
Size:
66,906 bases
Orientation:
Minus strand

Previous Assembly
chr4:16,162,128-16,228,094
(GRCh37/hg19 by Entrez Gene)
Size:
65,967 bases
Orientation:
Minus strand

chr4:16,162,128-16,229,033
(GRCh37/hg19 by Ensembl)
Size:
66,906 bases
Orientation:
Minus strand

Genomic View for TAPT1 Gene

Genes around TAPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAPT1 Gene

Proteins for TAPT1 Gene

  • Protein details for TAPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NXT6-TAPT1_HUMAN
    Recommended name:
    Transmembrane anterior posterior transformation protein 1 homolog
    Protein Accession:
    Q6NXT6
    Secondary Accessions:
    • Q8N2S3
    • Q9NZK9

    Protein attributes for TAPT1 Gene

    Size:
    567 amino acids
    Molecular mass:
    64260 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF28308.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TAPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAPT1 Gene

Post-translational modifications for TAPT1 Gene

  • Ubiquitination at Lys90 and Lys388
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TAPT1 Gene

Domains & Families for TAPT1 Gene

Gene Families for TAPT1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TAPT1 Gene

InterPro:

Suggested Antigen Peptide Sequences for TAPT1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52307 (B4DJJ3_HUMAN)
  • cDNA FLJ59140 (B4DR99_HUMAN)
  • Cytomegalovirus partial fusion receptor (TAPT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NXT6

UniProtKB/Swiss-Prot:

TAPT1_HUMAN :
  • Belongs to the TAPT1 family.
Family:
  • Belongs to the TAPT1 family.
genes like me logo Genes that share domains with TAPT1: view

Function for TAPT1 Gene

Molecular function for TAPT1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.

Phenotypes From GWAS Catalog for TAPT1 Gene

Gene Ontology (GO) - Molecular Function for TAPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016520 growth hormone-releasing hormone receptor activity TAS 10640539
genes like me logo Genes that share ontologies with TAPT1: view
genes like me logo Genes that share phenotypes with TAPT1: view

Human Phenotype Ontology for TAPT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAPT1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TAPT1 Gene

Localization for TAPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAPT1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAPT1 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
endoplasmic reticulum 3
peroxisome 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TAPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 26365339
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with TAPT1: view

Pathways & Interactions for TAPT1 Gene

PathCards logo

SuperPathways for TAPT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TAPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0014032 neural crest cell development ISS --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with TAPT1: view

No data available for Pathways by source and SIGNOR curated interactions for TAPT1 Gene

Drugs & Compounds for TAPT1 Gene

No Compound Related Data Available

Transcripts for TAPT1 Gene

mRNA/cDNA for TAPT1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAPT1

Alternative Splicing Database (ASD) splice patterns (SP) for TAPT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c
SP1: - - - - - - -
SP2: - -
SP3:
SP4: - - -
SP5: - -
SP6:
SP7:

Relevant External Links for TAPT1 Gene

GeneLoc Exon Structure for
TAPT1

Expression for TAPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TAPT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAPT1 Gene

This gene is overexpressed in Bone (16.6), Testis (9.7), Blymphocyte (6.6), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TAPT1 Gene



Protein tissue co-expression partners for TAPT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAPT1

SOURCE GeneReport for Unigene cluster for TAPT1 Gene:

Hs.479223

Evidence on tissue expression from TISSUES for TAPT1 Gene

  • Liver(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with TAPT1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TAPT1 Gene

Orthologs for TAPT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TAPT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TAPT1 29 30
  • 99.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 95 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia TAPT1 29 30
  • 92.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tapt1 29
  • 90.49 (n)
Mouse
(Mus musculus)
Mammalia Tapt1 29 16 30
  • 90.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TAPT1 29 30
  • 87.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TAPT1 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TAPT1 29 30
  • 82.85 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TAPT1 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tapt1 29
  • 76.15 (n)
Zebrafish
(Danio rerio)
Actinopterygii tapt1b 30
  • 77 (a)
OneToMany
tapt1 29
  • 73.37 (n)
TAPT1 (2 of 2) 30
  • 70 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002775 29
  • 55.8 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7218 29 30
  • 53.63 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F26F2.7 29 30
  • 57.47 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 30
  • 27 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 58 (a)
OneToOne
Species where no ortholog for TAPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TAPT1 Gene

ENSEMBL:
Gene Tree for TAPT1 (if available)
TreeFam:
Gene Tree for TAPT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TAPT1: view image
Alliance of Genome Resources:
Additional Orthologs for TAPT1

Paralogs for TAPT1 Gene

No data available for Paralogs for TAPT1 Gene

Variants for TAPT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAPT1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1004014520 Likely Benign: not provided 16,166,706(-) C/T
NM_153365.3(TAPT1):c.1401G>A (p.Leu467=)
SYNONYMOUS
rs114305245 Benign: not provided 16,179,570(-) G/T
NM_153365.3(TAPT1):c.997+7C>A
INTRON
rs114567951 Benign: not provided 16,166,670(-) C/T
NM_153365.3(TAPT1):c.1437G>A (p.Pro479=)
SYNONYMOUS
rs1180709851 Likely Benign: not provided 16,166,757(-) C/T
NM_153365.3(TAPT1):c.1350G>A (p.Leu450=)
SYNONYMOUS
rs1338086129 Pathogenic: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 16,176,194(-) C/A
NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TAPT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TAPT1 Gene

Variant ID Type Subtype PubMed ID
dgv8979n54 CNV loss 21841781
dgv8980n54 CNV gain 21841781
esv24752 CNV loss 19812545
esv2727223 CNV deletion 23290073
esv3893887 CNV loss 25118596
nsv1074696 CNV deletion 25765185
nsv1144075 CNV deletion 24896259
nsv4246 CNV insertion 18451855
nsv527861 CNV gain 19592680
nsv593775 CNV gain+loss 21841781
nsv593778 CNV gain 21841781
nsv949804 CNV duplication 24416366

Variation tolerance for TAPT1 Gene

Residual Variation Intolerance Score: 35.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.36; 53.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAPT1 Gene

Human Gene Mutation Database (HGMD)
TAPT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAPT1
Leiden Open Variation Database (LOVD)
TAPT1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAPT1 Gene

Disorders for TAPT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TAPT1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TAPT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAPT1_HUMAN
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) [MIM:616897]: An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. {ECO:0000269 PubMed:26365339}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TAPT1

genes like me logo Genes that share disorders with TAPT1: view

No data available for Genatlas for TAPT1 Gene

Publications for TAPT1 Gene

  1. Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. (PMID: 26365339) Symoens S … Coucke PJ (American journal of human genetics 2015) 3 4 72
  2. Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. (PMID: 17151244) Howell GR … Schimenti JC (Genetics 2007) 2 3
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. Cloning and epitope mapping of a functional partial fusion receptor for human cytomegalovirus gH. (PMID: 10640539) Baldwin BR … Keay S (The Journal of general virology 2000) 3 4
  5. Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane. (PMID: 32788342) Hannigan MM … Nicchitta CV (Molecular & cellular proteomics : MCP 2020) 3

Products for TAPT1 Gene

Sources for TAPT1 Gene