Clptm1 cleft lip and palate associated transmembrane protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Clptm1provided by MGI
Official Full Name: cleft lip and palate associated transmembrane protein 1provided by MGI
Primary source: MGI:MGI:1927155
See related: Ensembl:ENSMUSG00000002981 AllianceGenome:MGI:1927155
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: HS9; N14
Summary: Enables GABA receptor binding activity. Involved in regulation of T cell differentiation in thymus. Located in external side of plasma membrane. Is expressed in lymph node; spleen white pulp; thymus cortex; thymus primordium; and thymus thin fibrous capsule. Orthologous to human CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 72.9), colon adult (RPKM 61.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.93 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (19365505..19398955, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19631580..19665030, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that in complement to other GABAAR-associated proteins that promote receptor surface expression, Clptm1 limits GABAAR forward trafficking and regulates inhibitory homeostatic plasticity.
Title: Clptm1 Limits Forward Trafficking of GABA(A) Receptors to Scale Inhibitory Synaptic Strength.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 1 citation

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 GABA receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell differentiation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in GABA-ergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: putative lipid scramblase CLPTM1

Names: cleft lip and palate transmembrane protein 1 homolog; thymic epithelial cell surface antigen

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_019649.2 → NP_062623.2 putative lipid scramblase CLPTM1

See identical proteins and their annotated locations for NP_062623.2

Status: VALIDATED

Source sequence(s)

AI844337, AK152410, AK165742, BY288640

Consensus CDS

CCDS39800.1

UniProtKB/Swiss-Prot

O08708, Q3U758, Q3U823, Q3UG77, Q8VBZ3, Q8VEJ6

Related

ENSMUSP00000051293.10, ENSMUST00000055242.11

Conserved Domains (1) summary

pfam05602
Location:60 → 496

CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)

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_000073.7 Reference GRCm39 C57BL/6J

Range

19365505..19398955 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540227.1 → XP_006540290.1 putative lipid scramblase CLPTM1 isoform X1

Conserved Domains (1) summary

pfam05602
Location:1 → 395

CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)