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

Gene ID: 10113, updated on 5-Jan-2020

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
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

Genomic context

See PREB in Genome Data Viewer
Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27130756..27134675, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27353624..27357542, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene elastin microfibril interfacer 1 Neighboring gene ketohexokinase Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene abhydrolase domain containing 1 Neighboring gene proline rich 30 Neighboring gene transcription factor 23

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3467

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Sar guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Sar guanyl-nucleotide exchange factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating ISS
Inferred from Sequence or Structural Similarity
more info
 
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein exit from endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of COPII vesicle coating IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum exit site IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001330484.1NP_001317413.1  prolactin regulatory element-binding protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AA629936, BC016906, BG715668
    UniProtKB/TrEMBL
    Q05DB2
  2. NM_001330485.1NP_001317414.1  prolactin regulatory element-binding protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AA629936, AC013403, BC041032
    Consensus CDS
    CCDS82431.1
    UniProtKB/Swiss-Prot
    Q9HCU5
    UniProtKB/TrEMBL
    B5MC98
    Related
    ENSP00000384032.3, ENST00000406567.7
    Conserved Domains (3) summary
    COG2319
    Location:158296
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:157194
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:158299
    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 ...
  3. NM_001330486.1NP_001317415.1  prolactin regulatory element-binding protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AA629936, AC013403, BC041032
    UniProtKB/Swiss-Prot
    Q9HCU5
  4. NM_001330487.1NP_001317416.1  prolactin regulatory element-binding protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AA629936, AC013403, BC016906
    UniProtKB/TrEMBL
    Q05DB2
    Conserved Domains (3) summary
    COG2319
    Location:141269
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:160193
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:158255
    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 ...
  5. NM_013388.6NP_037520.1  prolactin regulatory element-binding protein 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
    Q9HCU5
    Related
    ENSP00000260643.2, ENST00000260643.7
    Conserved Domains (2) summary
    sd00039
    Location:162194
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:159375
    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 ...

RNA

  1. NR_138479.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA629936, AC013403, BC041032
    Related
    ENST00000444452.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27130756..27134675 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_939649.3 RNA Sequence

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