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Protein

Secretion-regulating guanine nucleotide exchange factor

Gene

SERGEF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • Ran guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  • negative regulation of protein secretion Source: HGNC
  • signal transduction Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Secretion-regulating guanine nucleotide exchange factor
Alternative name(s):
Deafness locus-associated putative guanine nucleotide exchange factor
Short name:
DelGEF
Guanine nucleotide exchange factor-related protein
Gene namesi
Name:SERGEF
Synonyms:DELGEF, GNEFR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:17499. SERGEF.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Nucleus 1 Publication

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485610.

Polymorphism and mutation databases

BioMutaiSERGEF.
DMDMi38257790.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 458458Secretion-regulating guanine nucleotide exchange factorPRO_0000206649Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei427 – 4271PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UGK8.
MaxQBiQ9UGK8.
PaxDbiQ9UGK8.
PeptideAtlasiQ9UGK8.
PRIDEiQ9UGK8.

PTM databases

iPTMnetiQ9UGK8.
PhosphoSiteiQ9UGK8.

Expressioni

Gene expression databases

BgeeiQ9UGK8.
CleanExiHS_SERGEF.
ExpressionAtlasiQ9UGK8. baseline and differential.
GenevisibleiQ9UGK8. HS.

Organism-specific databases

HPAiHPA037811.
HPA037812.

Interactioni

Subunit structurei

Interacts with SEC5. The interaction occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DPH3Q96FX23EBI-465368,EBI-465363
KDM1AO603412EBI-465368,EBI-710124
PRMT6Q96LA82EBI-465368,EBI-912440

Protein-protein interaction databases

BioGridi117674. 4 interactions.
IntActiQ9UGK8. 5 interactions.
MINTiMINT-4651037.
STRINGi9606.ENSP00000265965.

Structurei

3D structure databases

ProteinModelPortaliQ9UGK8.
SMRiQ9UGK8. Positions 6-381.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati15 – 6753RCC1 1Add
BLAST
Repeati68 – 11952RCC1 2Add
BLAST
Repeati120 – 17152RCC1 3Add
BLAST
Repeati172 – 23059RCC1 4Add
BLAST
Repeati231 – 28353RCC1 5Add
BLAST
Repeati284 – 35168RCC1 6Add
BLAST
Repeati352 – 40251RCC1 7Add
BLAST

Sequence similaritiesi

Contains 7 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00840000129719.
HOGENOMiHOG000154414.
HOVERGENiHBG051746.
InParanoidiQ9UGK8.
KOiK15421.
OMAiMDKERNW.
PhylomeDBiQ9UGK8.
TreeFamiTF330842.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR027048. DelGEF.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PANTHERiPTHR22870:SF208. PTHR22870:SF208. 2 hits.
PfamiPF00415. RCC1. 5 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SUPFAMiSSF50985. SSF50985. 1 hit.
PROSITEiPS00626. RCC1_2. 2 hits.
PS50012. RCC1_3. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UGK8-1) [UniParc]FASTAAdd to basket

Also known as: DelGEF1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEREPSASEA APAAAALFAW GANSYGQLGL GHKEDVLLPQ QLNDFCKPRS
60 70 80 90 100
VRRITGGGGH SAVVTDGGDL FVCGLNKDGQ LGLGHTEDIP YFTPCKSLFG
110 120 130 140 150
CPIQQVACGW DFTIMLTENG QVLSCGSNSF GQLGVPHGPR RCVVPQAIEL
160 170 180 190 200
HKEKVVCIAA GLRHAVAATA SGIVFQWGTG LASCGRRLCP GQTLPLFFTA
210 220 230 240 250
KEPSRVTGLE NSKAMCVLAG SDHSASLTDA GEVYVWGSNK HGQLANEAAF
260 270 280 290 300
LPVPQKIEAH CFQNEKVTAI WSGWTHLVAQ TETGKMFTWG RADYGQLGRK
310 320 330 340 350
LETYEGWKLE KQDSFLPCSR PPNSMPSSPH CLTGATEVSC GSEHNLAIIG
360 370 380 390 400
GVCYSWGWNE HGMCGDGTEA NVWAPKPVQA LLSSSGLLVG CGAGHSLALC
410 420 430 440 450
QLPAHPALVQ DPKVTYLSPD AIEDTESQKA MDKERNWKER QSETSTQSQS

DWSRNGGL
Length:458
Mass (Da):48,981
Last modified:October 31, 2003 - v2
Checksum:i0284B7E4A88F2A7C
GO
Isoform 2 (identifier: Q9UGK8-2) [UniParc]FASTAAdd to basket

Also known as: DelGEF2

The sequence of this isoform differs from the canonical sequence as follows:
     282-288: ETGKMFT → GLLWLRA
     289-458: Missing.

Show »
Length:288
Mass (Da):30,566
Checksum:i9E4D18FDFEDBB75A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti429 – 4291K → E.
Corresponds to variant rs1528 [ dbSNP | Ensembl ].
VAR_017156
Natural varianti457 – 4571G → E.
Corresponds to variant rs10788 [ dbSNP | Ensembl ].
VAR_017157

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei282 – 2887ETGKMFT → GLLWLRA in isoform 2. 1 PublicationVSP_050614
Alternative sequencei289 – 458170Missing in isoform 2. 1 PublicationVSP_050615Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ243950 mRNA. Translation: CAB60832.1.
AJ243951 mRNA. Translation: CAB60833.1.
BC065375 mRNA. Translation: AAH65375.1.
CCDSiCCDS7828.1. [Q9UGK8-1]
RefSeqiNP_036271.1. NM_012139.3. [Q9UGK8-1]
UniGeneiHs.32470.

Genome annotation databases

EnsembliENST00000265965; ENSP00000265965; ENSG00000129158. [Q9UGK8-1]
ENST00000528200; ENSP00000434188; ENSG00000129158. [Q9UGK8-2]
GeneIDi26297.
KEGGihsa:26297.
UCSCiuc001mnm.5. human. [Q9UGK8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ243950 mRNA. Translation: CAB60832.1.
AJ243951 mRNA. Translation: CAB60833.1.
BC065375 mRNA. Translation: AAH65375.1.
CCDSiCCDS7828.1. [Q9UGK8-1]
RefSeqiNP_036271.1. NM_012139.3. [Q9UGK8-1]
UniGeneiHs.32470.

3D structure databases

ProteinModelPortaliQ9UGK8.
SMRiQ9UGK8. Positions 6-381.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117674. 4 interactions.
IntActiQ9UGK8. 5 interactions.
MINTiMINT-4651037.
STRINGi9606.ENSP00000265965.

PTM databases

iPTMnetiQ9UGK8.
PhosphoSiteiQ9UGK8.

Polymorphism and mutation databases

BioMutaiSERGEF.
DMDMi38257790.

Proteomic databases

EPDiQ9UGK8.
MaxQBiQ9UGK8.
PaxDbiQ9UGK8.
PeptideAtlasiQ9UGK8.
PRIDEiQ9UGK8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265965; ENSP00000265965; ENSG00000129158. [Q9UGK8-1]
ENST00000528200; ENSP00000434188; ENSG00000129158. [Q9UGK8-2]
GeneIDi26297.
KEGGihsa:26297.
UCSCiuc001mnm.5. human. [Q9UGK8-1]

Organism-specific databases

CTDi26297.
GeneCardsiSERGEF.
HGNCiHGNC:17499. SERGEF.
HPAiHPA037811.
HPA037812.
MIMi606051. gene.
neXtProtiNX_Q9UGK8.
PharmGKBiPA143485610.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00840000129719.
HOGENOMiHOG000154414.
HOVERGENiHBG051746.
InParanoidiQ9UGK8.
KOiK15421.
OMAiMDKERNW.
PhylomeDBiQ9UGK8.
TreeFamiTF330842.

Miscellaneous databases

ChiTaRSiSERGEF. human.
GenomeRNAii26297.
PROiQ9UGK8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UGK8.
CleanExiHS_SERGEF.
ExpressionAtlasiQ9UGK8. baseline and differential.
GenevisibleiQ9UGK8. HS.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR027048. DelGEF.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PANTHERiPTHR22870:SF208. PTHR22870:SF208. 2 hits.
PfamiPF00415. RCC1. 5 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SUPFAMiSSF50985. SSF50985. 1 hit.
PROSITEiPS00626. RCC1_2. 2 hits.
PS50012. RCC1_3. 7 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafness."
    Uhlmann J., Wiemann S., Ponstingl H.
    FEBS Lett. 460:153-160(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION.
    Tissue: Fetal brain.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Ovary.
  3. "DelGEF, a homologue of the Ran guanine nucleotide exchange factor RanGEF, binds to the exocyst component Sec5 and modulates secretion."
    Sjoelinder M., Uhlmann J., Ponstingl H.
    FEBS Lett. 532:211-215(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SEC5.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  5. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-427, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.

Entry informationi

Entry nameiSRGEF_HUMAN
AccessioniPrimary (citable) accession number: Q9UGK8
Secondary accession number(s): Q9UGK9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 31, 2003
Last modified: July 6, 2016
This is version 126 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.