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Protein

Rho guanine nucleotide exchange factor 39

Gene

ARHGEF39

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Promotes cell proliferation.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-193648. NRAGE signals death through JNK.
R-HSA-194840. Rho GTPase cycle.
R-HSA-416482. G alpha (12/13) signalling events.

Names & Taxonomyi

Protein namesi
Recommended name:
Rho guanine nucleotide exchange factor 39
Gene namesi
Name:ARHGEF39
Synonyms:C9orf100
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000137135.17.
HGNCiHGNC:25909. ARHGEF39.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000137135.
PharmGKBiPA134939297.

Polymorphism and mutation databases

BioMutaiARHGEF39.
DMDMi74759886.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002918641 – 335Rho guanine nucleotide exchange factor 39Add BLAST335

Proteomic databases

EPDiQ8N4T4.
MaxQBiQ8N4T4.
PaxDbiQ8N4T4.
PeptideAtlasiQ8N4T4.
PRIDEiQ8N4T4.

PTM databases

iPTMnetiQ8N4T4.
PhosphoSitePlusiQ8N4T4.

Expressioni

Tissue specificityi

Strongly expressed in hepatocellular carcinoma (HCC) compared with their non-cancerous counterparts.1 Publication

Gene expression databases

BgeeiENSG00000137135.
CleanExiHS_C9orf100.
GenevisibleiQ8N4T4. HS.

Organism-specific databases

HPAiHPA061299.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124343. 16 interactors.
IntActiQ8N4T4. 4 interactors.
MINTiMINT-1457561.
STRINGi9606.ENSP00000367638.

Structurei

3D structure databases

ProteinModelPortaliQ8N4T4.
SMRiQ8N4T4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 197DHPROSITE-ProRule annotationAdd BLAST176
Domaini227 – 331PHPROSITE-ProRule annotationAdd BLAST105

Phylogenomic databases

eggNOGiENOG410IE9S. Eukaryota.
ENOG4110AJV. LUCA.
GeneTreeiENSGT00440000033863.
HOGENOMiHOG000035112.
HOVERGENiHBG058322.
InParanoidiQ8N4T4.
OMAiCPHLELY.
OrthoDBiEOG091G0DTO.
PhylomeDBiQ8N4T4.
TreeFamiTF350447.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
PfamiView protein in Pfam
PF00621. RhoGEF. 1 hit.
SMARTiView protein in SMART
SM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiView protein in PROSITE
PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N4T4-1) [UniParc]FASTAAdd to basket

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
MELSCPGSRC PVQEQRARWE RKRACTAREL LETERRYQEQ LGLVATYFLG
60 70 80 90 100
ILKAKGTLRP PERQALFGSW ELIYGASQEL LPYLEGGCWG QGLEGFCRHL
110 120 130 140 150
ELYNQFAANS ERSQTTLQEQ LKKNKGFRRF VRLQEGRPEF GGLQLQDLLP
160 170 180 190 200
LPLQRLQQYE NLVVALAENT GPNSPDHQQL TRAARLISET AQRVHTIGQK
210 220 230 240 250
QKNDQHLRRV QALLSGRQAK GLTSGRWFLR QGWLLVVPPH GEPRPRMFFL
260 270 280 290 300
FTDVLLMAKP RPPLHLLRSG TFACKALYPM AQCHLSRVFG HSGGPCGGLL
310 320 330
SLSFPHEKLL LMSTDQEELS RWYHSLTWAI SSQKN
Length:335
Mass (Da):38,295
Last modified:October 1, 2002 - v1
Checksum:i3D8C8D8068AE651E
GO
Isoform 2 (identifier: Q8N4T4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     37-46: YQEQLGLVAT → MLGVCQTLKQ

Note: No experimental confirmation available.
Show »
Length:299
Mass (Da):33,979
Checksum:iC83C7BCF16A63A4C
GO
Isoform 3 (identifier: Q8N4T4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-186: RAARL → PVLPS
     187-335: Missing.

Note: No experimental confirmation available.
Show »
Length:186
Mass (Da):21,315
Checksum:iB07479B0BA7B8EC8
GO
Isoform 4 (identifier: Q8N4T4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-305: SLSFP → TVLPS
     306-335: Missing.

Show »
Length:305
Mass (Da):34,647
Checksum:iE7D9184ADAB03485
GO

Sequence cautioni

The sequence AAR01010 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAR01011 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139E → G in BAB55192 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0618015C → F. Corresponds to variant dbSNP:rs45567235Ensembl.1
Natural variantiVAR_032876306H → R. Corresponds to variant dbSNP:rs2297879Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0262811 – 36Missing in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_02628237 – 46YQEQLGLVAT → MLGVCQTLKQ in isoform 2. 1 Publication10
Alternative sequenceiVSP_026283182 – 186RAARL → PVLPS in isoform 3. 1 Publication5
Alternative sequenceiVSP_026284187 – 335Missing in isoform 3. 1 PublicationAdd BLAST149
Alternative sequenceiVSP_026285301 – 305SLSFP → TVLPS in isoform 4. 1 Publication5
Alternative sequenceiVSP_026286306 – 335Missing in isoform 4. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY390225 mRNA. Translation: AAR01010.1. Different initiation.
AY390226 mRNA. Translation: AAR01011.1. Different initiation.
AL357874 Genomic DNA. Translation: CAI13452.1.
BC033666 mRNA. Translation: AAH33666.1.
BC038673 mRNA. No translation available.
AK027548 mRNA. Translation: BAB55192.1.
CCDSiCCDS6584.2. [Q8N4T4-1]
RefSeqiNP_116207.2. NM_032818.2.
UniGeneiHs.534579.

Genome annotation databases

EnsembliENST00000378387; ENSP00000367638; ENSG00000137135. [Q8N4T4-1]
ENST00000475323; ENSP00000436519; ENSG00000137135. [Q8N4T4-3]
ENST00000490638; ENSP00000436756; ENSG00000137135. [Q8N4T4-2]
GeneIDi84904.
KEGGihsa:84904.
UCSCiuc003zxl.4. human. [Q8N4T4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiARG39_HUMAN
AccessioniPrimary (citable) accession number: Q8N4T4
Secondary accession number(s): Q49AG0, Q6TPQ2, Q96ST6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2002
Last modified: September 27, 2017
This is version 121 of the entry and version 1 of the sequence. See 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 9
    Human chromosome 9: 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