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

Gene ID: 57393, updated on 17-Sep-2024

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; AllianceGenome:HGNC:29437
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
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Genomic context

See CLTRN in Genome Data Viewer
Location:
Xp22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (15627318..15675644, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (15210303..15247770, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15645441..15682928, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene angiotensin converting enzyme 2 Neighboring gene HNRNPDL pseudogene 5 Neighboring gene dACE2 interferon-inducible promoter region Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:15617708-15618907 Neighboring gene ACE2 promoter region Neighboring gene ACE2 divergent transcript Neighboring gene prothymosin alpha pseudogene 14 Neighboring gene nonconserved acetylation island sequence 104 enhancer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:15693246-15693864 Neighboring gene CA5BP1-CA5B readthrough Neighboring gene NANOG hESC enhancer GRCh37_chrX:15713069-15713611 Neighboring gene carbonic anhydrase 5B pseudogene 1 Neighboring gene small nucleolar RNA SNORA7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20673 Neighboring gene NANOG hESC enhancer GRCh37_chrX:15765293-15766154 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:15770987-15771772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:15787311-15788154 Neighboring gene carbonic anhydrase 5B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29450 Neighboring gene inactivation escape 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

General protein information

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.

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
    B2R9M1, Q6UW07, Q9HBJ8
    Related
    ENSP00000369699.3, ENST00000380342.4
    Conserved Domains (1) summary
    pfam16959
    Location:24171
    Collectrin; Renal amino acid transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    15627318..15675644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029680.2XP_016885169.1  collectrin isoform X2

    UniProtKB/TrEMBL
    A0A3B3ITM8
    Conserved Domains (1) summary
    pfam16959
    Location:1119
    Collectrin; Renal amino acid transporter
  2. XM_024452411.2XP_024308179.1  collectrin isoform X2

    UniProtKB/TrEMBL
    A0A3B3ITM8
    Related
    ENSP00000497814.1, ENST00000650271.1
    Conserved Domains (1) summary
    pfam16959
    Location:1119
    Collectrin; Renal amino acid transporter
  3. XM_017029681.2XP_016885170.1  collectrin isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    15210303..15247770 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327434.1XP_054183409.1  collectrin isoform X1