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

Gene ID: 202018, updated on 4-Jul-2021

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
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:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (16160505..16226477, complement)
105.20201022 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 TAPT1 antisense RNA 1 (head to head) Neighboring gene ribosomal protein S21 pseudogene 4 Neighboring gene fibroblast growth factor binding protein 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of smoking behaviours among Bangladeshi adults.
GeneReviews: Not available
Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
MedGen: C4225162 OMIM: 616897 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 maintenance of protein localization in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane TAS
Traceable Author Statement
more info
PubMed 

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
    Related
    ENSP00000385347.2, ENST00000405303.7
    Conserved Domains (1) summary
    pfam05346
    Location:155459
    DUF747; Eukaryotic membrane protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    16160505..16226477 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513816.3XP_011512118.1  transmembrane anterior posterior transformation protein 1 homolog isoform X4

    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
  2. XM_005248139.3XP_005248196.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

    See identical proteins and their annotated locations for XP_005248196.1

    Conserved Domains (1) summary
    pfam05346
    Location:29333
    DUF747; Eukaryotic membrane protein family
  3. XM_011513812.3XP_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_017007876.2XP_016863365.1  transmembrane anterior posterior transformation protein 1 homolog isoform X3

    Conserved Domains (1) summary
    pfam05346
    Location:14318
    DUF747; Eukaryotic membrane protein family
  5. XM_005248140.4XP_005248197.1  transmembrane anterior posterior transformation protein 1 homolog isoform X2

    See identical proteins and their annotated locations for XP_005248197.1

    Conserved Domains (1) summary
    pfam05346
    Location:29333
    DUF747; Eukaryotic membrane protein family
  6. XM_011513817.3XP_011512119.1  transmembrane anterior posterior transformation protein 1 homolog isoform X5

    Conserved Domains (1) summary
    pfam05346
    Location:1216
    DUF747; Eukaryotic membrane protein family

RNA

  1. XR_925318.3 RNA Sequence

  2. XR_241676.4 RNA Sequence

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