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

Gene ID: 202018, updated on 11-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (16160505..16227390, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (16142386..16209261, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5. Wang B, et al. J Biol Chem, 2022 Dec. PMID 36370851, Free PMC Article

See all (30) 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
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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_2023_10

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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