Tapt1 transmembrane anterior posterior transformation 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tapt1provided by MGI
Official Full Name: transmembrane anterior posterior transformation 1provided by MGI
Primary source: MGI:MGI:2683537
See related: Ensembl:ENSMUSG00000046985 AllianceGenome:MGI:2683537
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 4932414K18Rik
Summary: Acts upstream of or within embryonic skeletal system development. Predicted to be located in centrosome; cytosol; and nucleoplasm. Predicted to be active in ciliary basal body and endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; lung; and retina layer. Orthologous to human TAPT1 (transmembrane anterior posterior transformation 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 24.6), mammary gland adult (RPKM 10.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 24.24 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (44332496..44384411, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (44175154..44231163, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
TAPT1 is a downstream effector of HOXC8 that may act by transducing or transmitting extracellular information required for axial skeletal patterning during development.
Title: Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Targeted (1)
Transgenic (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anatomical structure development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic skeletal system development	IMP Inferred from Mutant Phenotype 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
involved_in positive regulation of cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cilium assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transmembrane anterior posterior transformation protein 1

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.

mRNA and Protein(s)

NM_173764.3 → NP_776125.2 transmembrane anterior posterior transformation protein 1

See identical proteins and their annotated locations for NP_776125.2

Status: VALIDATED

Source sequence(s)

BC096038, CN459607

Consensus CDS

CCDS19270.1

UniProtKB/Swiss-Prot

Q4VBD2, Q8CDI4

Related

ENSMUSP00000062110.8, ENSMUST00000055128.12

Conserved Domains (1) summary

pfam05346
Location:152 → 456

DUF747; Eukaryotic membrane protein family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

44332496..44384411 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503940.3 → XP_006504003.1 transmembrane anterior posterior transformation protein 1 isoform X1

Conserved Domains (1) summary

pfam05346
Location:146 → 450

DUF747; Eukaryotic membrane protein family
XM_030254388.1 → XP_030110248.1 transmembrane anterior posterior transformation protein 1 isoform X2

Conserved Domains (1) summary

pfam05346
Location:1 → 285

DUF747; Eukaryotic membrane protein family