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

Gene ID: 26297, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 11.3), thyroid (RPKM 11.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11p15.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17788048..18013047, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17885746..18110678, complement)
105.20220307 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 (15) 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)

Genotypes

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_2023_10

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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