PREB
Guanine nucleotide-exchange factor SEC12
Also known as: SEC12, SEC12_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HCU5
- Gene
- PREB
- Ensembl
- ENSG00000138073
- Chromosome
- 2
- Canonical length
- 417 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Endoplasmic reticulum
OverviewNCBI Gene
This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
417 residues, UniProt reviewed canonical sequence.
>Q9HCU5|PREB
1 MGRRRAPELY RAPFPLYALQ VDPSTGLLIA AGGGGAAKTG IKNGVHFLQL ELINGRLSAS
61 LLHSHDTETR ATMNLALAGD ILAAGQDAHC QLLRFQAHQQ QGNKAEKAGS KEQGPRQRKG
121 AAPAEKKCGA ETQHEGLELR VENLQAVQTD FSSDPLQKVV CFNHDNTLLA TGGTDGYVRV
181 WKVPSLEKVL EFKAHEGEIE DLALGPDGKL VTVGRDLKAS VWQKDQLVTQ LHWQENGPTF
241 SSTPYRYQAC RFGQVPDQPA GLRLFTVQIP HKRLRQPPPC YLTAWDGSNF LPLRTKSCGH
301 EVVSCLDVSE SGTFLGLGTV TGSVAIYIAF SLQCLYYVRE AHGIVVTDVA FLPEKGRGPE
361 LLGSHETALF SVAVDSRCQL HLLPSRRSVP VWLLLLLCVG LIIVTILLLQ SAFPGFLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PREB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 135 nTPM
Expression across tissuesHPA
Tissue
- liver: 135 nTPM
- skeletal muscle: 131 nTPM
- tongue: 105 nTPM
- epididymis: 100 nTPM
- pancreas: 73 nTPM
- heart muscle: 60 nTPM
Single-cell type
- epididymal principal cells: 127 nCPM
- syncytiotrophoblasts: 94 nCPM
- plasma cells: 76 nCPM
- extravillous trophoblasts: 73 nCPM
- oocytes: 65 nCPM
- hepatic stellate cells: 58 nCPM
Immune cell
- eosinophil: 104 nTPM
- basophil: 74 nTPM
- plasmacytoid DC: 74 nTPM
- NK-cell: 65 nTPM
- total PBMC: 64 nTPM
- myeloid DC: 63 nTPM
Brain region
- medulla oblongata: 36 nTPM
- hypothalamus: 32 nTPM
- white matter: 32 nTPM
- thalamus: 32 nTPM
- cerebral cortex: 31 nTPM
- spinal cord: 31 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.74
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.43
- DepMap mean gene effect
- -1.19
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- COPII vesicle coating
- endoplasmic reticulum to Golgi vesicle-mediated transport
- lipoprotein transport
- regulation of COPII vesicle coating
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- Quinoprotein alcohol dehydrogenase-like superfamily
- WD40/YVTN repeat-like-containing domain superfamily
- WD domain, G-beta repeat
- Guanine nucleotide-exchange factor Sec12-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PREB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PREB as an antibody target. Whether an autoantibody or antibody against PREB could matter depends on whether native PREB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PREB is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PREB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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