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    SERGEF secretion regulating guanine nucleotide exchange factor [ Homo sapiens (human) ]

    Gene ID: 26297, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SERGEFprovided by HGNC
    Official Full Name
    secretion regulating guanine nucleotide exchange factorprovided by HGNC
    Primary source
    HGNC:HGNC:17499
    See related
    Ensembl:ENSG00000129158 MIM:606051; AllianceGenome:HGNC:17499
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Gnefr; DELGEF
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Involved in negative regulation of protein secretion. Located in cytosol and nucleoplasm. Biomarker of atherosclerosis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 11.3), thyroid (RPKM 11.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SERGEF in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17788048..18013047, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17885746..18110678, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17809595..18034594, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742067-17742578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742579-17743090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3187 Neighboring gene myogenic differentiation 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17782125-17782626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17787029-17787530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17787531-17788030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17792794-17793294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17793295-17793795 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:17854771-17855271 Neighboring gene uncharacterized LOC124902642 Neighboring gene uncharacterized LOC107984317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17888867-17889368 Neighboring gene NANOG hESC enhancer GRCh37_chr11:17920239-17920740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18032869-18033386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18033387-18033903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4489 Neighboring gene tryptophan hydroxylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4490 Neighboring gene serum amyloid A like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Characterisation of an evolutionary conserved protein interacting with the putative guanine nucleotide exchange factor DelGEF and modulating secretion. Sjölinder M, et al. Exp Cell Res, 2004 Mar 10. PMID 14980502
    2. DelGEF, a homologue of the Ran guanine nucleotide exchange factor RanGEF, binds to the exocyst component Sec5 and modulates secretion. Sjölinder M, et al. FEBS Lett, 2002 Dec 4. PMID 12459492
    3. DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness. Uhlmann J, et al. FEBS Lett, 1999 Oct 22. PMID 10571079
    4. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DelGEF binds to the human homologue of Sec5 and modulates secretion.
      Title: DelGEF, a homologue of the Ran guanine nucleotide exchange factor RanGEF, binds to the exocyst component Sec5 and modulates secretion.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: TPH1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    secretion-regulating guanine nucleotide exchange factor
    Names
    deafness locus associated putative guanine nucleotide exchange factor
    guanine nucleotide exchange factor-related protein

    NCBI Reference Sequences (RefSeq)

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    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_012139.4 → NP_036271.1  secretion-regulating guanine nucleotide exchange factor

      See identical proteins and their annotated locations for NP_036271.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AK292286, BC065375
      Consensus CDS
      CCDS7828.1
      UniProtKB/Swiss-Prot
      Q9UGK8, Q9UGK9
      UniProtKB/TrEMBL
      A8K8C1
      Related
      ENSP00000265965.5, ENST00000265965.10
      Conserved Domains (2) summary
      pfam00415
      Location:68 → 116
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:103 → 132
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    RNA

    1. NR_104040.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC055860, AK292286, BC000707
      Related
      ENST00000525422.5

    2. NR_104041.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ243951, AK292286, BC065375
      Related
      ENST00000528200.5

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      17788048..18013047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      17885746..18110678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UGK8.2 GenPept UniProtKB/Swiss-Prot:Q9UGK8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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