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

Gene ID: 26297, updated on 7-Jun-2020

Summary

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
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
Expression
Ubiquitous expression in brain (RPKM 11.3), thyroid (RPKM 11.2) and 25 other tissues See more
Orthologs

Genomic context

See SERGEF in Genome Data Viewer
Location:
11p15.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17788048..18013047, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17809595..18034709, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene myogenic differentiation 1 Neighboring gene potassium voltage-gated channel subfamily C member 1 Neighboring gene uncharacterized LOC107984317 Neighboring gene uncharacterized LOC107984318 Neighboring gene tryptophan hydroxylase 1

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TPH1

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_012139.4NP_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
    UniProtKB/TrEMBL
    A8K8C1
    Related
    ENSP00000265965.5, ENST00000265965.10
    Conserved Domains (2) summary
    pfam00415
    Location:68116
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:103132
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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