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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
  • 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, putative transmembrane protein. 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. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for TAPT1 Gene

TAPT1 (Transmembrane Anterior Posterior Transformation 1) is a Protein Coding gene. GO annotations related to this gene include growth hormone-releasing hormone receptor activity.

UniProtKB/Swiss-Prot for TAPT1 Gene

  • May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.

No data available for 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

Promoters for TAPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TAPT1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TAPT1 Gene at MOPED

Post-translational modifications for TAPT1 Gene

  • Ubiquitination at Lys 90 and Lys 388
  • Modification sites at PhosphoSitePlus

Other Protein References for TAPT1 Gene

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:
May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.
genes like me logo Genes that share phenotypes with TAPT1: view

Animal Model Products

miRNA for TAPT1 Gene

miRTarBase miRNAs that target TAPT1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TAPT1 Gene COMPARTMENTS Subcellular localization image for TAPT1 gene
Compartment Confidence
plasma membrane 4
peroxisome 3
cytoskeleton 2
cytosol 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for TAPT1 Gene

Pathways & Interactions for TAPT1 Gene

SuperPathways for TAPT1 Gene

No Data Available

Interacting Proteins for TAPT1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000385347%0d%0a9606.ENSP00000263688%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q6NXT6-TAPT1_HUMAN ENSP00000385347 for TAPT1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for TAPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0048706 embryonic skeletal system 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:

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 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, MOPED, and MaxQB for TAPT1 Gene



SOURCE GeneReport for Unigene cluster for TAPT1 Gene Hs.479223

genes like me logo Genes that share expression patterns with TAPT1: view

Protein tissue co-expression partners for TAPT1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia TAPT1 35
  • 87.2 (n)
  • 93.8 (a)
TAPT1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAPT1 35
  • 92.18 (n)
  • 94.85 (a)
TAPT1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tapt1 35
  • 90.01 (n)
  • 95.21 (a)
Tapt1 16
Tapt1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TAPT1 35
  • 99.47 (n)
  • 99.82 (a)
TAPT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tapt1 35
  • 90.49 (n)
  • 97.01 (a)
oppossum
(Monodelphis domestica)
Mammalia TAPT1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 95 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves TAPT1 35
  • 82.85 (n)
  • 89.64 (a)
TAPT1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TAPT1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tapt1 35
  • 76.15 (n)
  • 84.23 (a)
zebrafish
(Danio rerio)
Actinopterygii tapt1 35
  • 73.37 (n)
  • 82.76 (a)
TAPT1 (2 of 2) 36
  • 70 (a)
OneToMany
tapt1b 36
  • 77 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002775 35
  • 55.8 (n)
  • 54.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7218 35
  • 53.63 (n)
  • 48.79 (a)
CG7218 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F26F2.7 35
  • 57.47 (n)
  • 51.46 (a)
F26F2.7 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for TAPT1:
  • 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
rs35606284 - 16,166,714(+) CTTCT(C/T)TTCCA nc-transcript-variant, reference, missense
rs16893137 - 16,163,447(+) CAGAA(C/T)TGCTT nc-transcript-variant, reference, missense
rs7359 -- 16,162,866(-) TCAAA(C/T)GTTAC nc-transcript-variant, utr-variant-3-prime
rs9946 -- 16,161,598(-) TTAGA(A/G)TTATT nc-transcript-variant, utr-variant-3-prime
rs13634 -- 16,161,586(-) TTTCC(A/G)TCTCC nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv527861 CNV Gain 19592680
nsv4246 CNV Insertion 18451855
esv2727223 CNV Deletion 23290073
nsv878720 CNV Loss 21882294
esv24752 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
TAPT1
Human Gene Mutation Database (HGMD)
TAPT1

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

Disorders for TAPT1 Gene

Relevant External Links for TAPT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAPT1

No disorders were found for TAPT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TAPT1 Gene

Publications for TAPT1 Gene

  1. 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Genome-wide association study of smoking behaviours among Bangladeshi adults. (PMID: 24665060) Argos M. … Ahsan H. (J. Med. Genet. 2014) 3
  4. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for TAPT1 Gene

Sources for TAPT1 Gene

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