U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 10113, updated on 27-Nov-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PREB in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27315477-27316062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27316063-27316648 Neighboring gene ketohexokinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27321908-27322751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27324357-27324857 Neighboring gene uncharacterized LOC124907744 Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27340928-27341428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27341429-27341929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11286 Neighboring gene abhydrolase domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27357261-27357917 Neighboring gene proline rich 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15492 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

Clone Names

  • MGC3467

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 
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 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
guanine nucleotide-exchange factor SEC12
Names
mammalian guanine nucleotide exchange factor mSec12
prolactin regulatory element-binding protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001330484.2NP_001317413.1  guanine nucleotide-exchange factor SEC12 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC013403
    UniProtKB/TrEMBL
    A8K813, Q05DB2
  2. NM_001330485.2NP_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: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_001330486.2NP_001317415.1  guanine nucleotide-exchange factor SEC12 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC013403
    UniProtKB/TrEMBL
    A8K813
  4. NM_001330487.2NP_001317416.1  guanine nucleotide-exchange factor SEC12 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC013403
    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  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: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_138479.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC013403
    Related
    ENST00000444452.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27130756..27134636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_939649.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27172401..27176281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486249.1 RNA Sequence