The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] See more...

Aliases for GID4 Gene

Aliases for GID4 Gene

  • GID Complex Subunit 4 Homolog 2 3 5
  • Vacuolar Import And Degradation Protein 24 Homolog 3 4
  • Glucose-Induced Degradation Protein 4 Homolog 3 4
  • Vacuolar Import And Degradation 24 2 3
  • C17orf39 3 4
  • VID24 3 4
  • GID Complex Subunit 4, VID24 Homolog (S. Cerevisiae) 2
  • GID Complex Subunit 4, VID24 Homolog 3
  • Chromosome 17 Open Reading Frame 39 2
  • GID Complex Subunit 4 2
  • VID2 3

External Ids for GID4 Gene

Previous HGNC Symbols for GID4 Gene

  • C17orf39

Previous GeneCards Identifiers for GID4 Gene

  • GC17P017943

Summaries for GID4 Gene

Entrez Gene Summary for GID4 Gene

  • The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

GeneCards Summary for GID4 Gene

GID4 (GID Complex Subunit 4 Homolog) is a Protein Coding gene. Diseases associated with GID4 include Smith-Magenis Syndrome.

UniProtKB/Swiss-Prot Summary for GID4 Gene

  • Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (Probable) (PubMed:29911972). Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp (PubMed:29632410). Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]-[Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Does not bind peptides with an acetylated N-terminal Pro residue (PubMed:29632410).

Additional gene information for GID4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GID4 Gene

Genomics for GID4 Gene

GeneHancer (GH) Regulatory Elements for GID4 Gene

Promoters and enhancers for GID4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J018037 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.2 -199 4.2 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 MYC TCF12 POLR2G USF1 ATPAF2 GID4 lnc-TOM1L2-6 TOM1L2 MPRIP-AS1 MPRIP SREBF1 MYO15A ENSG00000280198
GH17J017872 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 3.6 -165.6 -165596 3.8 POLR2A GLI4 ZNF335 SMARCA4 ZFP3 FOS GLIS2 GLI2 ENSG00000197815 TOM1L2 SREBF1 MIR33B RAI1 FAM106A DRC3 GID4 piR-42692 piR-35674-210
GH17J018300 Enhancer 0.6 FANTOM5 dbSUPER 2.8 +262.0 261966 0.3 FOS KLF17 POLR2A SHMT1 GID4 SMCR8 TOP3A DRC3 piR-49732-231 RPL7AP65 lnc-TOP3A-1
GH17J018041 Enhancer 0.4 ENCODE 0.7 +2.8 2757 1 ZNF10 ZBTB17 MAZ HMBOX1 CEBPB TOM1L2 GID4 HSALNG0115012
GH17J018045 Enhancer 0.3 Ensembl 0.4 +7.0 7004 0.6 ZNF384 SPI1 TOM1L2 GID4 HSALNG0115012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GID4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GID4

Genomic Locations for GID4 Gene

Genomic Locations for GID4 Gene
chr17:18,039,297-18,068,405
(GRCh38/hg38)
Size:
29,109 bases
Orientation:
Plus strand
chr17:17,942,606-17,971,718
(GRCh37/hg19)
Size:
29,113 bases
Orientation:
Plus strand

Genomic View for GID4 Gene

Genes around GID4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GID4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GID4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GID4 Gene

Proteins for GID4 Gene

  • Protein details for GID4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVV7-GID4_HUMAN
    Recommended name:
    Glucose-induced degradation protein 4 homolog
    Protein Accession:
    Q8IVV7
    Secondary Accessions:
    • Q8TEB5
    • Q9BW50

    Protein attributes for GID4 Gene

    Size:
    300 amino acids
    Molecular mass:
    33514 Da
    Quaternary structure:
    • Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972).

    Three dimensional structures from OCA and Proteopedia for GID4 Gene

neXtProt entry for GID4 Gene

Post-translational modifications for GID4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GID4 Gene

No data available for DME Specific Peptides for GID4 Gene

Domains & Families for GID4 Gene

Gene Families for GID4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GID4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IVV7

UniProtKB/Swiss-Prot:

GID4_HUMAN :
  • The first four residues of target peptides with a free N-terminal Pro (a Pro/N-degron) are bound inside a deep and narrow beta-barrel structure.
  • Belongs to the GID4/VID24 family.
Domain:
  • The first four residues of target peptides with a free N-terminal Pro (a Pro/N-degron) are bound inside a deep and narrow beta-barrel structure.
Family:
  • Belongs to the GID4/VID24 family.
genes like me logo Genes that share domains with GID4: view

No data available for Suggested Antigen Peptide Sequences for GID4 Gene

Function for GID4 Gene

Molecular function for GID4 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (Probable) (PubMed:29911972). Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp (PubMed:29632410). Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]-[Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Does not bind peptides with an acetylated N-terminal Pro residue (PubMed:29632410).

Phenotypes From GWAS Catalog for GID4 Gene

Gene Ontology (GO) - Molecular Function for GID4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with GID4: view
genes like me logo Genes that share phenotypes with GID4: view

Animal Model Products

CRISPR Products

miRNA for GID4 Gene

miRTarBase miRNAs that target GID4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GID4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GID4 Gene

Localization for GID4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GID4 gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GID4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 29911972
genes like me logo Genes that share ontologies with GID4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GID4 Gene

Pathways & Interactions for GID4 Gene

PathCards logo

SuperPathways for GID4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GID4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with GID4: view

No data available for Pathways by source and SIGNOR curated interactions for GID4 Gene

Drugs & Compounds for GID4 Gene

No Compound Related Data Available

Transcripts for GID4 Gene

mRNA/cDNA for GID4 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GID4

Alternative Splicing Database (ASD) splice patterns (SP) for GID4 Gene

No ASD Table

Relevant External Links for GID4 Gene

GeneLoc Exon Structure for
GID4

Expression for GID4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GID4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GID4 Gene

This gene is overexpressed in CD8 Tcells (52.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GID4 Gene



Protein tissue co-expression partners for GID4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GID4

SOURCE GeneReport for Unigene cluster for GID4 Gene:

Hs.187422

Evidence on tissue expression from TISSUES for GID4 Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with GID4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GID4 Gene

Orthologs for GID4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GID4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GID4 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C19H17ORF39 31
  • 99 (a)
OneToOne
GID4 30
  • 90.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GID4 31
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GID4 31
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GID4 31 30
  • 94.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gid4 30
  • 94.16 (n)
mouse
(Mus musculus)
Mammalia Gid4 17 31 30
  • 93.55 (n)
chicken
(Gallus gallus)
Aves C17ORF39 30
  • 82.8 (n)
GID4 31
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GID4 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gid4 30
  • 81.85 (n)
zebrafish
(Danio rerio)
Actinopterygii GID4 31
  • 88 (a)
OneToOne
LOC100333066 30
  • 79.11 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5699 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000312 30
  • 69.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 24 (a)
OneToMany
VID24 31
  • 22 (a)
OneToMany
-- 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G37680 30
  • 48.04 (n)
rice
(Oryza sativa)
Liliopsida Os03g0679000 30
  • 47.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
Cin.7644 30
bread mold
(Neurospora crassa)
Ascomycetes NCU04406 30
  • 54.99 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7644 30
Species where no ortholog for GID4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GID4 Gene

ENSEMBL:
Gene Tree for GID4 (if available)
TreeFam:
Gene Tree for GID4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GID4: view image

Paralogs for GID4 Gene

No data available for Paralogs for GID4 Gene

Variants for GID4 Gene

Additional dbSNP identifiers (rs#s) for GID4 Gene

Structural Variations from Database of Genomic Variants (DGV) for GID4 Gene

Variant ID Type Subtype PubMed ID
esv3325943 CNV insertion 20981092
esv3395120 CNV insertion 20981092
nsv1127540 CNV deletion 24896259
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv510701 CNV deletion 20534489

Variation tolerance for GID4 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GID4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GID4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GID4 Gene

Disorders for GID4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GID4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
- elite association - COSMIC cancer census association via MalaCards
Search GID4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GID4

genes like me logo Genes that share disorders with GID4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GID4 Gene

Publications for GID4 Gene

  1. The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. (PMID: 29911972) Lampert F … Peter M (eLife 2018) 3 4 54
  2. Molecular basis of GID4-mediated recognition of degrons for the Pro/N-end rule pathway. (PMID: 29632410) Dong C … Min J (Nature chemical biology 2018) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W … Lupski JR (Genome research 2002) 2 3 54

Products for GID4 Gene

  • Biorbyt antibodies for GID4

Sources for GID4 Gene