Human Gene TMEM123 (ENST00000398136.7) from GENCODE V44
  Description: Homo sapiens transmembrane protein 123 (TMEM123), mRNA. (from RefSeq NM_052932)
RefSeq Summary (NM_052932): This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000398136.7
Gencode Gene: ENSG00000152558.15
Transcript (Including UTRs)
   Position: hg38 chr11:102,396,332-102,452,765 Size: 56,434 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr11:102,398,867-102,452,623 Size: 53,757 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:102,396,332-102,452,765)mRNA (may differ from genome)Protein (208 aa)
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PORIM_HUMAN
DESCRIPTION: RecName: Full=Porimin; AltName: Full=Keratinocytes-associated transmembrane protein 3; Short=KCT-3; AltName: Full=Pro-oncosis receptor inducing membrane injury; AltName: Full=Transmembrane protein 123; Flags: Precursor;
FUNCTION: Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Ubiquitous. Not expressed in ovary. Expressed in keratinocytes.
SIMILARITY: Belongs to the CD164 family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 69.34 RPKM in Uterus
Total median expression: 1430.01 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.20142-0.551 Picture PostScript Text
3' UTR -576.402535-0.227 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
  ModBase Predicted Comparative 3D Structure on Q8N131
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-  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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0038023 signaling receptor activity

Biological Process:
GO:0007165 signal transduction
GO:0070267 oncosis

Cellular Component:
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  KJ895274 - Synthetic construct Homo sapiens clone ccsbBroadEn_04668 TMEM123 gene, encodes complete protein.
AL137643 - Homo sapiens mRNA; cDNA DKFZp586A2324 (from clone DKFZp586A2324).
LF384508 - JP 2014500723-A/192011: Polycomb-Associated Non-Coding RNAs.
MA620085 - JP 2018138019-A/192011: Polycomb-Associated Non-Coding RNAs.
AK026572 - Homo sapiens cDNA: FLJ22919 fis, clone KAT06680.
AL050161 - Homo sapiens mRNA; cDNA DKFZp586B0222 (from clone DKFZp586B0222).
AL110202 - Homo sapiens mRNA; cDNA DKFZp586I2022 (from clone DKFZp586I2022).
AY008283 - Homo sapiens porimin mRNA, complete cds.
AK075420 - Homo sapiens cDNA PSEC0111 fis, clone NT2RP2006028, moderately similar to Pro-oncosis receptor inducing membrane injury gene.
BC032296 - Homo sapiens transmembrane protein 123, mRNA (cDNA clone MGC:40439 IMAGE:4340763), complete cds.
JD317069 - Sequence 298093 from Patent EP1572962.
JD154936 - Sequence 135960 from Patent EP1572962.
JD557758 - Sequence 538782 from Patent EP1572962.
JD564153 - Sequence 545177 from Patent EP1572962.
JD081866 - Sequence 62890 from Patent EP1572962.
JD296324 - Sequence 277348 from Patent EP1572962.
JD235009 - Sequence 216033 from Patent EP1572962.
JD058631 - Sequence 39655 from Patent EP1572962.
JD447771 - Sequence 428795 from Patent EP1572962.
JD206813 - Sequence 187837 from Patent EP1572962.
JD562940 - Sequence 543964 from Patent EP1572962.
JD337795 - Sequence 318819 from Patent EP1572962.
JD357992 - Sequence 339016 from Patent EP1572962.
JD550858 - Sequence 531882 from Patent EP1572962.
LF375566 - JP 2014500723-A/183069: Polycomb-Associated Non-Coding RNAs.
MA611143 - JP 2018138019-A/183069: Polycomb-Associated Non-Coding RNAs.
JD301802 - Sequence 282826 from Patent EP1572962.
JD110058 - Sequence 91082 from Patent EP1572962.
AK225790 - Homo sapiens mRNA for pro-oncosis receptor inducing membrane injury gene variant, clone: FCC131E06.
AY358696 - Homo sapiens clone DNA66309 serine/threonine-rich receptor (UNQ641) mRNA, complete cds.
JD507752 - Sequence 488776 from Patent EP1572962.
JD270074 - Sequence 251098 from Patent EP1572962.
JD220619 - Sequence 201643 from Patent EP1572962.
AY157580 - Homo sapiens keratinocytes associated transmembrane protein 3 (KCT3) mRNA, complete cds.
JD449533 - Sequence 430557 from Patent EP1572962.
JD040508 - Sequence 21532 from Patent EP1572962.
DQ891654 - Synthetic construct clone IMAGE:100004284; FLH179011.01X; RZPDo839B10130D transmembrane protein 123 (TMEM123) gene, encodes complete protein.
DQ894842 - Synthetic construct Homo sapiens clone IMAGE:100009302; FLH179007.01L; RZPDo839B10129D transmembrane protein 123 (TMEM123) gene, encodes complete protein.
CU689316 - Synthetic construct Homo sapiens gateway clone IMAGE:100020643 5' read TMEM123 mRNA.
LF375563 - JP 2014500723-A/183066: Polycomb-Associated Non-Coding RNAs.
MA611140 - JP 2018138019-A/183066: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000398136.1, ENST00000398136.2, ENST00000398136.3, ENST00000398136.4, ENST00000398136.5, ENST00000398136.6, KCT3, NM_052932, PORIM_HUMAN, PSEC0111, Q8IWS2, Q8N131, Q96QV2, uc001pha.1, uc001pha.2, uc001pha.3, uc001pha.4, uc001pha.5, UNQ641/PRO1271
UCSC ID: ENST00000398136.7
RefSeq Accession: NM_052932
Protein: Q8N131 (aka PORIM_HUMAN)
CCDS: CCDS41702.1

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