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Aliases for SERGEF Gene

Aliases for SERGEF Gene

  • Secretion Regulating Guanine Nucleotide Exchange Factor 2 3 5
  • Guanine Nucleotide Exchange Factor-Related Protein 3 4
  • DELGEF 3 4
  • Gnefr 3 4
  • Deafness Locus Associated Putative Guanine Nucleotide Exchange Factor 3
  • Deafness Locus-Associated Putative Guanine Nucleotide Exchange Factor 4
  • Secretion-Regulating Guanine Nucleotide Exchange Factor 3

External Ids for SERGEF Gene

Previous GeneCards Identifiers for SERGEF Gene

  • GC11M017492

Summaries for SERGEF Gene

GeneCards Summary for SERGEF Gene

SERGEF (Secretion Regulating Guanine Nucleotide Exchange Factor) is a Protein Coding gene. GO annotations related to this gene include Ran guanyl-nucleotide exchange factor activity. An important paralog of this gene is HERC2.

UniProtKB/Swiss-Prot for SERGEF Gene

  • Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process.

Additional gene information for SERGEF Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERGEF Gene

Genomics for SERGEF Gene

Regulatory Elements for SERGEF Gene

Enhancers for SERGEF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H018011 1.3 ENCODE dbSUPER 42.5 +0.6 623 3.5 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ELK1 SAAL1 SERGEF SNORD14A GTF2H1 SNORD14B SPTY2D1 ENSG00000256361 LOC100129966 TSG101 GC11P017952
GH11H017921 0.9 Ensembl ENCODE 40.4 +91.1 91108 0.7 CEBPB MAFG BACH1 CEBPG ZNF316 MAFF GATA2 POLR2A NFE2 EMSY SERGEF GC11P017950 GC11P017887
GH11H017999 0.9 dbSUPER 39.7 +12.2 12195 3.5 ELF3 FOXA2 ATF1 MLX ARID4B THRB ZSCAN9 RARA ZNF121 CREM SERGEF SAAL1 HIGD1AP5 GC11P017952
GH11H017985 1.1 ENCODE dbSUPER 22.3 +26.8 26810 1.8 ELF3 SOX13 CTCF SAP130 CEBPG ZNF644 ZNF7 TEAD3 FOS NR2F6 SERGEF MYOD1 SAAL1 HIGD1AP5 GC11P017952
GH11H017953 0.7 ENCODE 24.6 +58.7 58700 1.3 FOXA2 TAF1 MAX REST RAD21 FOXA1 GABPA YY1 JUND ATF3 SERGEF GC11P017952
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERGEF on UCSC Golden Path with GeneCards custom track

Promoters for SERGEF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000037583 162 1601 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ELK1

Genomic Locations for SERGEF Gene

Genomic Locations for SERGEF Gene
chr11:17,788,048-18,013,162
(GRCh38/hg38)
Size:
225,115 bases
Orientation:
Minus strand
chr11:17,809,595-18,034,709
(GRCh37/hg19)

Genomic View for SERGEF Gene

Genes around SERGEF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SERGEF Gene

Proteins for SERGEF Gene

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

    Protein Symbol:
    Q9UGK8-SRGEF_HUMAN
    Recommended name:
    Secretion-regulating guanine nucleotide exchange factor
    Protein Accession:
    Q9UGK8
    Secondary Accessions:
    • Q9UGK9

    Protein attributes for SERGEF Gene

    Size:
    458 amino acids
    Molecular mass:
    48981 Da
    Quaternary structure:
    • Interacts with SEC5. The interaction occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP.

    Alternative splice isoforms for SERGEF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERGEF Gene

Post-translational modifications for SERGEF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERGEF Gene

Domains & Families for SERGEF Gene

Gene Families for SERGEF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SERGEF Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SERGEF: view

No data available for UniProtKB/Swiss-Prot for SERGEF Gene

Function for SERGEF Gene

Molecular function for SERGEF Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process.

Gene Ontology (GO) - Molecular Function for SERGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005087 Ran guanyl-nucleotide exchange factor activity TAS 10571079
GO:0005515 protein binding IPI 12459492
genes like me logo Genes that share ontologies with SERGEF: view
genes like me logo Genes that share phenotypes with SERGEF: view

Animal Model Products

CRISPR Products

miRNA for SERGEF Gene

miRTarBase miRNAs that target SERGEF

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERGEF Gene

Localization for SERGEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERGEF Gene

Cytoplasm. Nucleus.

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 SERGEF gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10571079
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 10571079
GO:0005829 cytosol IDA --
GO:0016235 aggresome IDA --
genes like me logo Genes that share ontologies with SERGEF: view

Pathways & Interactions for SERGEF Gene

SuperPathways for SERGEF Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 10571079
GO:0043547 positive regulation of GTPase activity IEA --
GO:0050709 negative regulation of protein secretion IEA,IDA 12459492
genes like me logo Genes that share ontologies with SERGEF: view

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

Drugs & Compounds for SERGEF Gene

(5) Drugs for SERGEF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Magnesium Nutra 0

(1) Additional Compounds for SERGEF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERGEF: view

Transcripts for SERGEF Gene

Unigene Clusters for SERGEF Gene

Secretion regulating guanine nucleotide exchange factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - -
SP2: - - -
SP3: - - - - - -
SP4: - -
SP5: - - - - - - -
SP6: - - -
SP7: -
SP8:

Relevant External Links for SERGEF Gene

GeneLoc Exon Structure for
SERGEF
ECgene alternative splicing isoforms for
SERGEF

Expression for SERGEF Gene

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

Protein differential expression in normal tissues from HIPED for SERGEF Gene

This gene is overexpressed in Retina (31.0), Pancreas (13.2), and CD8 Tcells (11.2).

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



Protein tissue co-expression partners for SERGEF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERGEF Gene:

SERGEF

SOURCE GeneReport for Unigene cluster for SERGEF Gene:

Hs.32470

Evidence on tissue expression from TISSUES for SERGEF Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with SERGEF: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERGEF Gene

Orthologs for SERGEF Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SERGEF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERGEF 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia SERGEF 33
  • 88.81 (n)
cow
(Bos Taurus)
Mammalia SERGEF 33 34
  • 84.57 (n)
mouse
(Mus musculus)
Mammalia Sergef 33 16 34
  • 81.13 (n)
rat
(Rattus norvegicus)
Mammalia Sergef 33
  • 80.66 (n)
oppossum
(Monodelphis domestica)
Mammalia SERGEF 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERGEF 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERGEF 33 34
  • 67.56 (n)
lizard
(Anolis carolinensis)
Reptilia SERGEF 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC146459 33
  • 56.73 (n)
Str.14264 33
zebrafish
(Danio rerio)
Actinopterygii sergef 33 34
  • 53.71 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008272 33
  • 45.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7420 33 34
  • 45.03 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15906g 33
  • 42.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATS1 33
  • 42.64 (n)
SRM1 34
  • 16 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC10F6.04 33
  • 44.52 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00469 33
  • 44.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2363 34
  • 16 (a)
ManyToMany
Species where no ortholog for SERGEF 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERGEF Gene

ENSEMBL:
Gene Tree for SERGEF (if available)
TreeFam:
Gene Tree for SERGEF (if available)

Paralogs for SERGEF Gene

Paralogs for SERGEF Gene

genes like me logo Genes that share paralogs with SERGEF: view

Variants for SERGEF Gene

Sequence variations from dbSNP and Humsavar for SERGEF Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000009389 -- 17,939,362(+) CACCA(A/G)CCTGT intron-variant
rs1000015826 -- 17,961,336(+) AAACT(G/T)GCAAA intron-variant
rs1000021237 -- 18,007,844(+) TTCCT(C/G)TGCAA intron-variant
rs1000035148 -- 17,846,607(+) GGTCT(A/G)GTCAT intron-variant
rs1000040837 -- 17,812,504(+) CTGCT(A/G)CTGGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv957369 CNV deletion 24416366
nsv832079 CNV loss 17160897
nsv832078 CNV loss 17160897
nsv553590 CNV loss 21841781
nsv553589 CNV loss 21841781
nsv553567 CNV gain 21841781
nsv526501 CNV loss 19592680
nsv516767 CNV loss 19592680
nsv515890 CNV loss 19592680
nsv509390 CNV insertion 20534489
nsv477531 CNV novel sequence insertion 20440878
nsv1153453 CNV deletion 26484159
esv989849 CNV deletion 20482838
esv5041 CNV loss 18987735
esv3891936 CNV loss 25118596
esv3625481 CNV loss 21293372
esv3625480 CNV loss 21293372
esv2744165 CNV deletion 23290073
esv2744163 CNV deletion 23290073
esv2744162 CNV deletion 23290073
esv2101877 CNV deletion 18987734
esv1955784 CNV deletion 18987734
esv1127023 CNV deletion 17803354

Variation tolerance for SERGEF Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.74; 78.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERGEF Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERGEF Gene

Disorders for SERGEF Gene

Relevant External Links for SERGEF

Genetic Association Database (GAD)
SERGEF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERGEF

No disorders were found for SERGEF Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SERGEF Gene

Publications for SERGEF Gene

  1. DelGEF, a homologue of the Ran guanine nucleotide exchange factor RanGEF, binds to the exocyst component Sec5 and modulates secretion. (PMID: 12459492) Sjölinder M … Ponstingl H (FEBS letters 2002) 2 3 4 22 60
  2. DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness. (PMID: 10571079) Uhlmann J … Ponstingl H (FEBS letters 1999) 2 3 4 60
  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 60
  4. Characterisation of an evolutionary conserved protein interacting with the putative guanine nucleotide exchange factor DelGEF and modulating secretion. (PMID: 14980502) Sjölinder M … Ponstingl H (Experimental cell research 2004) 3 22 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for SERGEF Gene

Sources for SERGEF Gene

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