Human Gene TSPO (ENST00000337554.8_4) from GENCODE V47lift37
  Description: translocator protein, transcript variant PBR (from RefSeq NM_000714.6)
Gencode Transcript: ENST00000337554.8_4
Gencode Gene: ENSG00000100300.18_8
Transcript (Including UTRs)
   Position: hg19 chr22:43,547,565-43,559,248 Size: 11,684 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr22:43,555,245-43,558,997 Size: 3,753 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:43,547,565-43,559,248)mRNA (may differ from genome)Protein (169 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TSPOA_HUMAN
DESCRIPTION: RecName: Full=Translocator protein; AltName: Full=Mitochondrial benzodiazepine receptor; AltName: Full=PKBS; AltName: Full=Peripheral-type benzodiazepine receptor; Short=PBR;
FUNCTION: Responsible for the manifestation of peripheral-type benzodiazepine recognition sites and is most likely to comprise binding domains for benzodiazepines and isoquinoline carboxamides. May play a role in the transport of porphyrins and heme. Plays a role in the transport of cholesterol across mitochondrial membranes in steroidogenic cells (By similarity).
SUBUNIT: Interacts with BZRAP1 (By similarity). May interact with STAR (By similarity). Interacts with MOST-1.
SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Found in many tissue types. Expressed at the highest levels under normal conditions in tissues that synthesize steroids.
SIMILARITY: Belongs to the TspO/BZRP family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bzrp/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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.
Click here to open Exonprimer with this transcript

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


-  MalaCards Disease Associations
  MalaCards Gene Search: TSPO
Diseases sorted by gene-association score: hepatic encephalopathy (35), focal epilepsy (22), generalized anxiety disorder (19), first-degree atrioventricular block (18), hepatic coma (17), panic disorder (15), amnestic disorder (14), temporal lobe epilepsy (13), anxiety disorder (11), withdrawal disorder (10), acute liver failure (10), separation anxiety disorder (8), lipoid adrenal hyperplasia (7), biliary dyskinesia (6), encephalitis (4), image syndrome (3), idiopathic generalized epilepsy (3), cerebrovascular disease (3), angelman syndrome (2), schizophrenia (1), amyotrophic lateral sclerosis 1 (0)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 254.37 RPKM in Whole Blood
Total median expression: 3289.82 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 -25.0075-0.333 Picture PostScript Text
3' UTR -97.90251-0.390 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
IPR004307 - TspO_MBR

Pfam Domains:
PF03073 - TspO/MBR family

ModBase Predicted Comparative 3D Structure on P30536
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005497 androgen binding
GO:0005515 protein binding
GO:0008503 benzodiazepine receptor activity
GO:0015485 cholesterol binding
GO:0017127 cholesterol transporter activity
GO:0044325 ion channel binding

Biological Process:
GO:0006626 protein targeting to mitochondrion
GO:0006694 steroid biosynthetic process
GO:0006700 C21-steroid hormone biosynthetic process
GO:0006783 heme biosynthetic process
GO:0006811 ion transport
GO:0006820 anion transport
GO:0006821 chloride transport
GO:0006869 lipid transport
GO:0006915 apoptotic process
GO:0007165 signal transduction
GO:0007568 aging
GO:0008202 steroid metabolic process
GO:0008283 cell proliferation
GO:0008347 glial cell migration
GO:0010042 response to manganese ion
GO:0010266 response to vitamin B1
GO:0010823 negative regulation of mitochondrion organization
GO:0010940 positive regulation of necrotic cell death
GO:0014012 peripheral nervous system axon regeneration
GO:0030301 cholesterol transport
GO:0030325 adrenal gland development
GO:0031397 negative regulation of protein ubiquitination
GO:0032374 regulation of cholesterol transport
GO:0032570 response to progesterone
GO:0032720 negative regulation of tumor necrosis factor production
GO:0033574 response to testosterone
GO:0042493 response to drug
GO:0043065 positive regulation of apoptotic process
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0048265 response to pain
GO:0048266 behavioral response to pain
GO:0048678 response to axon injury
GO:0050810 regulation of steroid biosynthetic process
GO:0051901 positive regulation of mitochondrial depolarization
GO:0051928 positive regulation of calcium ion transport
GO:0060242 contact inhibition
GO:0060252 positive regulation of glial cell proliferation
GO:0060253 negative regulation of glial cell proliferation
GO:0071222 cellular response to lipopolysaccharide
GO:0071294 cellular response to zinc ion
GO:0071476 cellular hypotonic response
GO:0072655 establishment of protein localization to mitochondrion
GO:0072656 maintenance of protein location in mitochondrion
GO:1903147 negative regulation of mitophagy
GO:1903579 negative regulation of ATP metabolic process
GO:2000379 positive regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP895437 - Sequence 301 from Patent EP3253886.
L21950 - Human peripheral benzodiazepine receptor related mRNA sequence.
JD156971 - Sequence 137995 from Patent EP1572962.
BC001110 - Homo sapiens translocator protein (18kDa), mRNA (cDNA clone MGC:1184 IMAGE:2989070), complete cds.
M36035 - Human peripheral benzodiazepine receptor (hpbs) mRNA, complete cds.
JD416111 - Sequence 397135 from Patent EP1572962.
AY998017 - Homo sapiens peripheral benzodiazepine receptor (PBR) mRNA, complete cds.
CR456409 - Homo sapiens BZRP full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.BZRP.V2).
AB528267 - Synthetic construct DNA, clone: pF1KE0489, Homo sapiens TSPO gene for translocator protein, without stop codon, in Flexi system.
CU013257 - Homo sapiens BZRP, mRNA (cDNA clone IMAGE:100000035), complete cds, without stop codon, in Gateway system.
DQ890713 - Synthetic construct clone IMAGE:100003343; FLH165383.01X; RZPDo839B08160D translocator protein (18kDa) (TSPO) gene, encodes complete protein.
CU012969 - Homo sapiens BZRP, mRNA (cDNA clone IMAGE:100000131), complete cds, with stop codon, in Gateway system.
KJ896514 - Synthetic construct Homo sapiens clone ccsbBroadEn_05908 TSPO gene, encodes complete protein.
BT006949 - Homo sapiens benzodiazapine receptor (peripheral) mRNA, complete cds.
AF075589 - Homo sapiens MDA-MB-231 peripheral-type benzodiazepine receptor (PBR) mRNA, partial cds.
AF075590 - Homo sapiens MCF-7 peripheral-type benzodiazepine receptor (PBR) mRNA, partial cds.
BX537892 - Homo sapiens mRNA; cDNA DKFZp313M1136 (from clone DKFZp313M1136).
JD472725 - Sequence 453749 from Patent EP1572962.
CR457007 - Homo sapiens full open reading frame cDNA clone RZPDo834G035D for gene BZRP, benzodiazapine receptor (peripheral); complete cds, incl. stopcodon.
JD108387 - Sequence 89411 from Patent EP1572962.
JD141142 - Sequence 122166 from Patent EP1572962.
JD243446 - Sequence 224470 from Patent EP1572962.
JD477753 - Sequence 458777 from Patent EP1572962.
JD234253 - Sequence 215277 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P30536 (Reactome details) participates in the following event(s):

R-HSA-8951850 TSPO:BZRAP1 transports CHOL from outer mitochondrial membrane to inner mitochondrial membrane
R-HSA-196108 Pregnenolone biosynthesis
R-HSA-196071 Metabolism of steroid hormones
R-HSA-209943 Steroid hormones
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: BZRP, ENST00000337554.1, ENST00000337554.2, ENST00000337554.3, ENST00000337554.4, ENST00000337554.5, ENST00000337554.6, ENST00000337554.7, MBR, NM_000714, P30536, Q53Y59, Q6ICF9, Q96TF6, TSPO_HUMAN, uc317uuk.1, uc317uuk.2
UCSC ID: ENST00000337554.8_4
RefSeq Accession: NM_000714.6
Protein: P30536 (aka TSPOA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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