Human Gene CLTRN (ENST00000380342.4) from GENCODE V41
  Description: Homo sapiens collectrin, amino acid transport regulator (CLTRN), mRNA. (from RefSeq NM_020665)
RefSeq Summary (NM_020665): 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].
Gencode Transcript: ENST00000380342.4
Gencode Gene: ENSG00000147003.7
Transcript (Including UTRs)
   Position: hg38 chrX:15,627,318-15,664,805 Size: 37,488 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chrX:15,627,971-15,664,775 Size: 36,805 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:15,627,318-15,664,805)mRNA (may differ from genome)Protein (222 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Collectrin; AltName: Full=Transmembrane protein 27; Flags: Precursor;
FUNCTION: Regulator of SNARE complex function. Stimulator of beta cell replication.
SUBUNIT: Homodimer (By similarity). Associates with SLC6A18 (By similarity). Interacts with SNAPIN.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Kidney; collecting ducts. Pancreas; beta cells of islets.
PTM: Glycosylated (By similarity).
PTM: The extracellular domain is cleaved and released from the cell membrane of pancreatic beta cells (By similarity).
SIMILARITY: Belongs to the TMEM27 family.
SEQUENCE CAUTION: Sequence=AAQ89419.1; Type=Frameshift; Positions=207;

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.12 RPKM in Kidney - Cortex
Total median expression: 68.12 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.9030-0.063 Picture PostScript Text
3' UTR -128.81653-0.197 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001548 - Peptidase_M2

ModBase Predicted Comparative 3D Structure on Q9HBJ8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008237 metallopeptidase activity
GO:0008241 peptidyl-dipeptidase activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006508 proteolysis
GO:0035543 positive regulation of SNARE complex assembly
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0045956 positive regulation of calcium ion-dependent exocytosis
GO:0051957 positive regulation of amino acid transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031526 brush border membrane
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  KM576721 - Homo sapiens clone TMEM27-ACE2_T4-A2middle mRNA sequence.
KM576722 - Homo sapiens clone TMEM27-ACE2_T4-A2 mRNA sequence.
KM576723 - Homo sapiens clone TMEM27-ACE2_T5-A2middle mRNA sequence.
KM576724 - Homo sapiens clone TMEM27-ACE2_T5-A2 mRNA sequence.
BC050606 - Homo sapiens transmembrane protein 27, mRNA (cDNA clone MGC:60059 IMAGE:5183554), complete cds.
AF229179 - Homo sapiens collectrin mRNA, complete cds.
BC015099 - Homo sapiens transmembrane protein 27, mRNA (cDNA clone MGC:22827 IMAGE:3829035), complete cds.
AY359060 - Homo sapiens clone DNA61873 NX-17 (UNQ678) mRNA, complete cds.
BC014317 - Homo sapiens transmembrane protein 27, mRNA (cDNA clone MGC:22707 IMAGE:4048217), complete cds.
JD114215 - Sequence 95239 from Patent EP1572962.
JD245400 - Sequence 226424 from Patent EP1572962.
JD359085 - Sequence 340109 from Patent EP1572962.
JD273595 - Sequence 254619 from Patent EP1572962.
JD180122 - Sequence 161146 from Patent EP1572962.
AK313835 - Homo sapiens cDNA, FLJ94460, Homo sapiens kidney-specific membrane protein (NX17), mRNA.
KJ904836 - Synthetic construct Homo sapiens clone ccsbBroadEn_14230 TMEM27 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9M1, ENST00000380342.1, ENST00000380342.2, ENST00000380342.3, NM_020665, Q6UW07, Q9HBJ8, TMEM27, TMM27_HUMAN, uc004cxc.1, uc004cxc.2, uc004cxc.3, uc004cxc.4, uc004cxc.5, UNQ679/PRO1312
UCSC ID: ENST00000380342.4
RefSeq Accession: NM_020665
Protein: Q9HBJ8 (aka TMM27_HUMAN)
CCDS: CCDS14170.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.