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

    Gene ID: 57393, updated on 28-Oct-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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