Cltrn collectrin, amino acid transport regulator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cltrnprovided by MGI
Official Full Name: collectrin, amino acid transport regulatorprovided by MGI
Primary source: MGI:MGI:1926234
See related: Ensembl:ENSMUSG00000015401 AllianceGenome:MGI:1926234
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: NX17; NX-17; Tmem27; 0610008J07Rik
Summary: Enables protein homodimerization activity. Acts upstream of or within positive regulation of amino acid transport. Located in brush border membrane. Is expressed in genitourinary system. Orthologous to human CLTRN (collectrin, amino acid transport regulator). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward kidney adult (RPKM 72.1) See more
Orthologs: human all
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Genomic context

Location:: X F5; X 76.12 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (162873183..162901855)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (164090187..164118859)

Chromosome X - NC_000086.8 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
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?

this study shows that Tmem27-mediated cross-presentation supports intrahepatic adaptive antiviral immune responses and may lead to insights into the nature of how the liver acts as a primary site of CD8+ T cell activation
Title: Cross-Presentation of Soluble and Cell-Associated Antigen by Murine Hepatocytes Is Enhanced by Collectrin Expression.
analysis of the interaction of amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin
Title: Molecular basis for the interaction of the mammalian amino acid transporters B0AT1 and B0AT3 with their ancillary protein collectrin.
Collectrin is a consequential link between the transport of l-arginine and endothelial nitric oxide synthase uncoupling in hypertension.
Title: Loss of collectrin, an angiotensin-converting enzyme 2 homolog, uncouples endothelial nitric oxide synthase and causes hypertension and vascular dysfunction.
Collectrin and ACE2 in renal and intestinal amino acid transport.
Title: Collectrin and ACE2 in renal and intestinal amino acid transport.
These data indicate the involvement of mitochondrial TCA cycle intermediates, distal to pyruvate, in the regulation of collectrin protein expression in beta-cells.
Title: Glucose enhances collectrin protein expression in insulin-producing MIN6 beta cells.
In contrast to its association with ACE2 observed in Xenopus oocytes, experiments with ace2 and collectrin null mice demonstrate that in vivo it is Collectrin, a smaller homologue of ACE2, that is required for functional expression of XT2 in kidney.
Title: Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3.
Collectrin-deficient mice activate a number of adaptive mechanisms to defend energy homeostasis in the setting of ongoing nutrient losses.
Title: Increased insulin sensitivity in mice lacking collectrin, a downstream target of HNF-1alpha.
functional association of mutant B(0)AT1 transporters with ACE2 and collectrin in intestine and kidney, respectively, participates in the phenotypic heterogeneity of Hartnup disorder
Title: Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Collectrin has a role in amino acid transpor in the kidney [review]
Title: Collectrin and the kidney.
data identify collectrin as a key regulator of renal amino acid uptake
Title: Essential role for collectrin in renal amino acid transport.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (6) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in SNARE complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_positive_effect calcium-ion regulated exocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_positive_effect insulin secretion involved in cellular response to glucose stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of L-proline import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of amino acid transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of amino acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transmembrane transporter activity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: collectrin

Names: kidney-specific membrane protein; transmembrane protein 27

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_001313719.1 → NP_001300648.1 collectrin isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in place of the first two exons and lacks an alternate internal in-frame exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.

Source sequence(s)

AK148534, AL732294

UniProtKB/Swiss-Prot

Q9ESG4

Conserved Domains (1) summary

pfam16959
Location:1 → 58

Collectrin; Renal amino acid transporter
NM_020626.2 → NP_065651.1 collectrin isoform 1 precursor

See identical proteins and their annotated locations for NP_065651.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL732294

Consensus CDS

CCDS30517.1

UniProtKB/Swiss-Prot

Q3UFF6, Q9ESG4

Related

ENSMUSP00000015545.4, ENSMUST00000015545.10

Conserved Domains (1) summary

pfam16959
Location:24 → 171

Collectrin; Renal amino acid transporter