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

Gene ID: 202018, updated on 4-Jan-2025

Summary

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ90013

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway  
involved_in cartilage development  
involved_in cell projection organization  
involved_in embryonic skeletal system development  
involved_in neural crest cell development  
involved_in ossification  
involved_in positive regulation of bone development  
involved_in positive regulation of cartilage development  
involved_in positive regulation of cilium assembly  
involved_in positive regulation of cilium assembly PubMed 
Component Evidence Code Pubs
located_in centrosome PubMed 
is_active_in ciliary basal body  
located_in ciliary basal body PubMed 
located_in cytosol  
is_active_in endoplasmic reticulum membrane  
located_in membrane PubMed 
located_in nucleoplasm  

General protein information

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_153365.3NP_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:155459
    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_047449754.1XP_047305710.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

    UniProtKB/TrEMBL
    B4DJJ3
  2. XM_011513816.4XP_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:44348
    DUF747; Eukaryotic membrane protein family
  3. XM_011513812.4XP_011512114.1  transmembrane anterior posterior transformation protein 1 homolog isoform X1

    Conserved Domains (1) summary
    pfam05346
    Location:155414
    DUF747; Eukaryotic membrane protein family
  4. XM_047449755.1XP_047305711.1  transmembrane anterior posterior transformation protein 1 homolog isoform X3

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

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

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

    Conserved Domains (1) summary
    pfam05346
    Location:1216
    DUF747; Eukaryotic membrane protein family
  8. XM_047449759.1XP_047305715.1  transmembrane anterior posterior transformation protein 1 homolog isoform X6

  9. XM_047449758.1XP_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_054349177.1XP_054205152.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

    UniProtKB/TrEMBL
    B4DJJ3
  2. XM_054349176.1XP_054205151.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

    UniProtKB/TrEMBL
    B4DJJ3
  3. XM_054349175.1XP_054205150.1  transmembrane anterior posterior transformation protein 1 homolog isoform X1

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

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

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

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

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

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

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