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Aliases for TAPT1 Gene

Aliases for TAPT1 Gene

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

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 Complex Lethal Osteochondrodysplasia and Osteochondrodysplasia. GO annotations related to this gene include growth hormone-releasing hormone receptor activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TAPT1 Gene

Genomics for TAPT1 Gene

Regulatory Elements for TAPT1 Gene

Enhancers for TAPT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G016140 1.2 Ensembl ENCODE 17.9 +85.6 85606 3.6 ELF3 TBP FOXA2 NFIB ARID4B RARA GATA4 GATA2 FOS CREM PROM1 TAPT1 ENSG00000249234 GC04P016144 GC04P016134
GH04G016222 1.6 FANTOM5 ENCODE dbSUPER 12.9 +1.5 1489 6.4 PKNOX1 FOXA2 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 TAPT1 PROM1 TAPT1-AS1 FGFBP2 ENSG00000249234
GH04G016196 0.9 Ensembl ENCODE 12.2 +30.7 30657 1.3 ZNF263 CTCF PKNOX1 TEAD4 CHD7 RAD21 FOXA1 IKZF1 SMC3 PRDM1 TAPT1 TAPT1-AS1 ENSG00000249234
GH04G016042 0.7 dbSUPER 11.5 +182.7 182721 3.6 PKNOX1 ZNF680 ARNT ZNF10 GFI1B FEZF1 ZNF843 ATF2 FOXA1 OSR2 TAPT1 GC04M016016 PROM1
GH04G016157 0.7 ENCODE 9.4 +68.0 68025 3.5 SOX13 ZFP64 TAL1 CEBPG FOSL1 TCF12 GATA2 NCOR1 FOS EZH2 PROM1 TAPT1 TAPT1-AS1 GC04P016144 ENSG00000249234
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TAPT1 on UCSC Golden Path with GeneCards custom track

Promoters for TAPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000166286 910 3401 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF766 ZHX2 KAT8

Genomic Location for TAPT1 Gene

Chromosome:
4
Start:
16,160,505 bp from pter
End:
16,227,410 bp from pter
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; Positions=Several; 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

Protein Domains for TAPT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TAPT1 Gene

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

No data available for Gene Families for TAPT1 Gene

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.

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

Animal Model Products

CRISPR Products

miRNA for TAPT1 Gene

miRTarBase miRNAs that target TAPT1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
peroxisome 3
nucleus 2
cytosol 2

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

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:0001701 in utero embryonic development IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0009791 post-embryonic development 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

Unigene Clusters for TAPT1 Gene

Transmembrane anterior posterior transformation 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
TAPT1

Expression for TAPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TAPT1 Gene



Protein tissue co-expression partners for TAPT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TAPT1 Gene:

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

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 34 35
  • 99.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TAPT1 34 35
  • 92.18 (n)
rat
(Rattus norvegicus)
Mammalia Tapt1 34
  • 90.49 (n)
mouse
(Mus musculus)
Mammalia Tapt1 34 16 35
  • 90.01 (n)
cow
(Bos Taurus)
Mammalia TAPT1 34 35
  • 87.2 (n)
oppossum
(Monodelphis domestica)
Mammalia TAPT1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAPT1 34 35
  • 82.85 (n)
lizard
(Anolis carolinensis)
Reptilia TAPT1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tapt1 34
  • 76.15 (n)
zebrafish
(Danio rerio)
Actinopterygii tapt1b 35
  • 77 (a)
OneToMany
tapt1 34
  • 73.37 (n)
TAPT1 (2 of 2) 35
  • 70 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002775 34
  • 55.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7218 34 35
  • 53.63 (n)
worm
(Caenorhabditis elegans)
Secernentea F26F2.7 34 35
  • 57.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
Species where no ortholog for TAPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TAPT1 Gene

No data available for Paralogs for TAPT1 Gene

Variants for TAPT1 Gene

Sequence variations from dbSNP and Humsavar for TAPT1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_076497 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) [MIM:616897]
rs869312980 Pathogenic 16,176,168(-) CGTGG(A/T)TATTG nc-transcript-variant, reference, missense
rs869320633 Pathogenic 16,174,730(-) TTTTA(C/G)GTCTA splice-acceptor-variant
rs1000036001 -- 16,221,326(+) TCACC(A/G)TGTTG intron-variant
rs1000122404 -- 16,223,471(+) ACATA(C/T)GCAAC intron-variant

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)

Relevant External Links for TAPT1 Gene

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

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: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
complex lethal osteochondrodysplasia
  • complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type
osteochondrodysplasia
  • mucopolysaccharidosis iv
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for TAPT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 P.J. (Am. J. Hum. Genet. 2015) 3 4 64
  2. Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. (PMID: 17151244) Howell G.R. … Schimenti J.C. (Genetics 2007) 2 3 64
  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 Res. 2005) 3 4 64
  4. Cloning and epitope mapping of a functional partial fusion receptor for human cytomegalovirus gH. (PMID: 10640539) Baldwin B.R. … Keay S. (J. Gen. Virol. 2000) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TAPT1 Gene

Sources for TAPT1 Gene

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