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CLTRN collectrin, amino acid transport regulator [ Homo sapiens (human) ]

Gene ID: 57393, updated on 24-Nov-2020

Summary

Official Symbol
CLTRNprovided by HGNC
Official Full Name
collectrin, amino acid transport regulatorprovided by HGNC
Primary source
HGNC:HGNC:29437
See related
Ensembl:ENSG00000147003 MIM:300631
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
NX17; NX-17; TMEM27
Summary
This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]
Expression
Biased expression in kidney (RPKM 116.5) and liver (RPKM 8.9) See more
Orthologs

Genomic context

See CLTRN in Genome Data Viewer
Location:
Xp22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (15627318..15675624, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15645439..15683154, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene angiotensin I converting enzyme 2 Neighboring gene HNRNPDL pseudogene 5 Neighboring gene ACE2 promoter region Neighboring gene uncharacterized LOC104798195 Neighboring gene nonconserved acetylation island sequence 104 enhancer Neighboring gene prothymosin alpha pseudogene 14 Neighboring gene CA5BP1-CA5B readthrough Neighboring gene carbonic anhydrase 5B pseudogene 1 Neighboring gene carbonic anhydrase 5B Neighboring gene inactivation escape 2 Neighboring gene zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 Neighboring gene adaptor related protein complex 1 subunit sigma 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
collectrin
Names
kidney-specific membrane protein
transmembrane protein 27

NCBI Reference Sequences (RefSeq)

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_015970.1 RefSeqGene

    Range
    5227..42714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020665.6NP_065716.1  collectrin precursor

    See identical proteins and their annotated locations for NP_065716.1

    Status: REVIEWED

    Source sequence(s)
    AI470468, BC014317
    Consensus CDS
    CCDS14170.1
    UniProtKB/Swiss-Prot
    Q9HBJ8
    Related
    ENSP00000369699.3, ENST00000380342.4
    Conserved Domains (1) summary
    pfam16959
    Location:24171
    Collectrin; Renal amino acid transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    15627318..15675624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029680.1XP_016885169.1  collectrin isoform X1

    Conserved Domains (1) summary
    pfam16959
    Location:1119
    Collectrin; Renal amino acid transporter
  2. XM_024452411.1XP_024308179.1  collectrin isoform X1

    Related
    ENSP00000497814.1, ENST00000650271.1
    Conserved Domains (1) summary
    pfam16959
    Location:1119
    Collectrin; Renal amino acid transporter
  3. XM_017029681.1XP_016885170.1  collectrin isoform X2

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