PREB prolactin regulatory element binding [Homo sapiens (human)] - Gene

Summary

Official Symbol: PREBprovided by HGNC
Official Full Name: prolactin regulatory element bindingprovided by HGNC
Primary source: HGNC:HGNC:9356
See related: Ensembl:ENSG00000138073 MIM:606395; AllianceGenome:HGNC:9356
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: SEC12
Summary: 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]
Expression: Ubiquitous expression in ovary (RPKM 22.2), fat (RPKM 20.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (27130756..27134636, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27172401..27176281, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27353624..27357504, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Both cTAGE5 and SEC12 were exported with TANGO1 in large COPII carriers.
Title: TANGO1 and SEC12 are copackaged with procollagen I to facilitate the generation of large COPII carriers.
Administration of recombinant adenovirus containing human PREB to db/db, ob/ob, and DIO mice diminished glucose, insulin, and pyruvate tolerance indicating PREB to be a negative regulator of liver gluconeogenic genes.
Title: Prolactin regulatory element-binding (PREB) protein regulates hepatic glucose homeostasis.
Wls-SEC12 binding is stable, with the interacting interface biochemically mapped to cytosolic segments of individual proteins. Mutant Wls that fails to communicate with the COPII machinery cannot effectively support Wnt secretion. These data suggest that formation of early Wnt secretory vesicles is carefully regulated to ensure proper export of functional ligands
Title: A Wntless-SEC12 complex on the ER membrane regulates early Wnt secretory vesicle assembly and mature ligand export.
These results indicate that PREB locates at the hepatitis C virus replication complex by interacting with NS4B.
Title: Prolactin Regulatory Element Binding Protein Is Involved in Hepatitis C Virus Replication by Interaction with NS4B.
Sec12, a guanine-nucleotide exchange factor for Sar1 guanosine triphosphatase, is concentrated at endoplasmic reticulum exit sites and that this concentration of Sec12 is specifically required for the secretion of collagen VII but not other proteins.
Title: Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.
PREB regulates the cAMP-mediated transcription of the ABCA1 gene in vascular smooth muscle cells
Title: Transcriptional factor prolactin regulatory element-binding protein-mediated gene transcription of ABCA1 via 3',5'-cyclic adenosine-5'-monophosphate.
The transcriptional factor PREB mediates MCP-1 transcription induced by cytokines in human vascular endothelial cells.
Title: The transcriptional factor PREB mediates MCP-1 transcription induced by cytokines in human vascular endothelial cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with prolactin regulatory element binding (PREB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH35839 (e-PCR)
- UniSTS:87052

WI-21131 (e-PCR)
- UniSTS:11040

MARC_49992-49993:1124119588:2 (e-PCR)
- UniSTS:477502

STS-N81134 (e-PCR)
- UniSTS:54481

RH92602 (e-PCR)
- UniSTS:85218

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables GTPase binding	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII vesicle coating	TAS Traceable Author Statement more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipoprotein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of COPII vesicle coating	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of COPII vesicle coating	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum exit site	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: guanine nucleotide-exchange factor SEC12

Names: mammalian guanine nucleotide exchange factor mSec12; prolactin regulatory element-binding protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001330484.2 → NP_001317413.1 guanine nucleotide-exchange factor SEC12 isoform 2

Status: REVIEWED

Source sequence(s)

AC013403

UniProtKB/TrEMBL

A8K813, Q05DB2
NM_001330485.2 → NP_001317414.1 guanine nucleotide-exchange factor SEC12 isoform 3

Status: REVIEWED

Source sequence(s)

AC013403

Consensus CDS

CCDS82431.1

UniProtKB/TrEMBL

A8K813, B5MC98

Related

ENSP00000384032.3, ENST00000406567.7

Conserved Domains (3) summary

COG2319
Location:158 → 296

WD40; WD40 repeat [General function prediction only]

sd00039
Location:157 → 194

7WD40; WD40 repeat [structural motif]

cl02567
Location:158 → 299

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001330486.2 → NP_001317415.1 guanine nucleotide-exchange factor SEC12 isoform 4

Status: REVIEWED

Source sequence(s)

AC013403

UniProtKB/TrEMBL

A8K813
NM_001330487.2 → NP_001317416.1 guanine nucleotide-exchange factor SEC12 isoform 5

Status: REVIEWED

Source sequence(s)

AC013403

UniProtKB/TrEMBL

Q05DB2

Conserved Domains (3) summary

COG2319
Location:141 → 269

WD40; WD40 repeat [General function prediction only]

sd00039
Location:160 → 193

7WD40; WD40 repeat [structural motif]

cl02567
Location:158 → 255

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_013388.6 → NP_037520.1 guanine nucleotide-exchange factor SEC12 isoform 1

See identical proteins and their annotated locations for NP_037520.1

Status: REVIEWED

Source sequence(s)

AC013403

Consensus CDS

CCDS1738.1

UniProtKB/Swiss-Prot

Q53SZ8, Q9HCU5, Q9UH94

UniProtKB/TrEMBL

A8K813

Related

ENSP00000260643.2, ENST00000260643.7

Conserved Domains (2) summary

sd00039
Location:162 → 194

7WD40; WD40 repeat [structural motif]

cl25539
Location:159 → 375

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...