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    TAPT1 transmembrane anterior posterior transformation 1 [ Homo sapiens (human) ]

    Gene ID: 202018, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TAPT1provided by HGNC
    Official Full Name
    transmembrane anterior posterior transformation 1provided by HGNC
    Primary source
    HGNC:HGNC:26887
    See related
    Ensembl:ENSG00000169762 MIM:612758; AllianceGenome:HGNC:26887
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMVFR; OCLSBG
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 10.8), testis (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TAPT1 in Genome Data Viewer
    Location:
    4p15.32
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (16160505..16227390, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (16142386..16209261, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (16162128..16228094, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986261 Neighboring gene uncharacterized LOC105374502 Neighboring gene uncharacterized LOC107986187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21347 Neighboring gene TAPT1 antisense RNA 1 (head to head) Neighboring gene ribosomal protein S21 pseudogene 4 Neighboring gene uncharacterized LOC124900674 Neighboring gene fibroblast growth factor binding protein 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning and expression of receptor peptides that block human cytomegalovirus/cell fusion. Baldwin BR, et al. Biochem Biophys Res Commun, 1996 Feb 15. PMID 8605045
    2. TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta. Etich J, et al. EMBO Mol Med, 2023 Jul 10. PMID 37292039, Free PMC Article
    3. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. Nabavizadeh N, et al. EMBO Mol Med, 2023 Feb 8. PMID 36652330, Free PMC Article
    4. Cloning and epitope mapping of a functional partial fusion receptor for human cytomegalovirus gH. Baldwin BR, et al. J Gen Virol, 2000 Jan. PMID 10640539
    5. Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Symoens S, et al. Am J Hum Genet, 2015 Oct 1. PMID 26365339, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
      Title: TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
    2. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
      Title: A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
    3. Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5.
      Title: Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5.
    4. A perinatal lethal mutation in mouse Tapt1 results in homeotic, posterior-to-anterior transformations of the axial skeleton.
      Title: Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Complex lethal osteochondrodysplasia
    MedGen: C4225162 OMIM: 616897 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours among Bangladeshi adults.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ90013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth hormone-releasing hormone receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural crest cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cilium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane anterior posterior transformation protein 1 homolog
    Names
    cytomegalovirus partial fusion receptor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033259.1 RefSeqGene

      Range
      5068..71034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153365.3 → NP_699196.2  transmembrane anterior posterior transformation protein 1 homolog

      See identical proteins and their annotated locations for NP_699196.2

      Status: REVIEWED

      Source sequence(s)
      AA811306, AC108063, BC066899
      Consensus CDS
      CCDS47030.1
      UniProtKB/Swiss-Prot
      Q6NXT6, Q8N2S3, Q9NZK9
      Related
      ENSP00000385347.2, ENST00000405303.7
      Conserved Domains (1) summary
      pfam05346
      Location:155 → 459
      DUF747; Eukaryotic membrane protein family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      16160505..16227390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449754.1 → XP_047305710.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      B4DJJ3

    2. XM_011513816.4 → XP_011512118.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

      See identical proteins and their annotated locations for XP_011512118.1

      UniProtKB/TrEMBL
      B4DJJ3
      Conserved Domains (1) summary
      pfam05346
      Location:44 → 348
      DUF747; Eukaryotic membrane protein family

    3. XM_011513812.4 → XP_011512114.1  transmembrane anterior posterior transformation protein 1 homolog isoform X1

      Conserved Domains (1) summary
      pfam05346
      Location:155 → 414
      DUF747; Eukaryotic membrane protein family

    4. XM_047449755.1 → XP_047305711.1  transmembrane anterior posterior transformation protein 1 homolog isoform X3

    5. XM_047449756.1 → XP_047305712.1  transmembrane anterior posterior transformation protein 1 homolog isoform X4

    6. XM_047449757.1 → XP_047305713.1  transmembrane anterior posterior transformation protein 1 homolog isoform X4

    7. XM_011513817.4 → XP_011512119.1  transmembrane anterior posterior transformation protein 1 homolog isoform X7

      Conserved Domains (1) summary
      pfam05346
      Location:1 → 216
      DUF747; Eukaryotic membrane protein family

    8. XM_047449759.1 → XP_047305715.1  transmembrane anterior posterior transformation protein 1 homolog isoform X6

    9. XM_047449758.1 → XP_047305714.1  transmembrane anterior posterior transformation protein 1 homolog isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      16142386..16209261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349177.1 → XP_054205152.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      B4DJJ3

    2. XM_054349176.1 → XP_054205151.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      B4DJJ3

    3. XM_054349175.1 → XP_054205150.1  transmembrane anterior posterior transformation protein 1 homolog isoform X1

    4. XM_054349178.1 → XP_054205153.1  transmembrane anterior posterior transformation protein 1 homolog isoform X3

    5. XM_054349179.1 → XP_054205154.1  transmembrane anterior posterior transformation protein 1 homolog isoform X4

    6. XM_054349180.1 → XP_054205155.1  transmembrane anterior posterior transformation protein 1 homolog isoform X4

    7. XM_054349183.1 → XP_054205158.1  transmembrane anterior posterior transformation protein 1 homolog isoform X7

    8. XM_054349182.1 → XP_054205157.1  transmembrane anterior posterior transformation protein 1 homolog isoform X6

    9. XM_054349181.1 → XP_054205156.1  transmembrane anterior posterior transformation protein 1 homolog isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NXT6.1 GenPept UniProtKB/Swiss-Prot:Q6NXT6

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