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

    Gene ID: 10113, updated on 2-May-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
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    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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27130756..27134636, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27172401..27176281, complement)
    105.20220307 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
    prolactin regulatory element-binding protein
    Names
    mammalian guanine nucleotide exchange factor mSec12

    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  prolactin regulatory element-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC013403
      UniProtKB/TrEMBL
      A8K813, Q05DB2
    2. NM_001330485.2NP_001317414.1  prolactin regulatory element-binding protein 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  prolactin regulatory element-binding protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC013403
      UniProtKB/TrEMBL
      A8K813
    4. NM_001330487.2NP_001317416.1  prolactin regulatory element-binding protein 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  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
      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_2023_10

    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