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Protein

Rho guanine nucleotide exchange factor 40

Gene

ARHGEF40

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

Functioni

May act as a guanine nucleotide exchange factor (GEF).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-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 40
Alternative name(s):
Protein SOLO
Gene namesi
Name:ARHGEF40
Synonyms:SOLO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:25516. ARHGEF40.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000165801.

Polymorphism and mutation databases

DMDMi296452953.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148221 – 1519Rho guanine nucleotide exchange factor 40Add BLAST1519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei262PhosphoserineCombined sources1
Modified residuei371PhosphothreonineCombined sources1
Modified residuei419PhosphoserineCombined sources1
Modified residuei931PhosphoserineCombined sources1
Modified residuei961PhosphoserineCombined sources1
Modified residuei1082PhosphoserineCombined sources1
Modified residuei1433PhosphoserineCombined sources1
Modified residuei1438PhosphoserineCombined sources1
Modified residuei1474PhosphoserineCombined sources1
Modified residuei1492PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TER5.
MaxQBiQ8TER5.
PaxDbiQ8TER5.
PeptideAtlasiQ8TER5.
PRIDEiQ8TER5.

PTM databases

iPTMnetiQ8TER5.
PhosphoSitePlusiQ8TER5.

Expressioni

Tissue specificityi

Expressed at higher level in the central nervous system and skeletal muscle and greater abundance in fetal than adult brain (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000165801.
ExpressionAtlasiQ8TER5. baseline and differential.
GenevisibleiQ8TER5. HS.

Organism-specific databases

HPAiHPA030746.
HPA030757.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SPERTQ8NA613EBI-10275150,EBI-741724

Protein-protein interaction databases

BioGridi120826. 7 interactors.
IntActiQ8TER5. 5 interactors.
MINTiMINT-1409884.
STRINGi9606.ENSP00000298694.

Structurei

3D structure databases

ProteinModelPortaliQ8TER5.
SMRiQ8TER5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1085 – 1253DHPROSITE-ProRule annotationAdd BLAST169
Domaini1265 – 1372PHPROSITE-ProRule annotationAdd BLAST108

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili828 – 871Sequence analysisAdd BLAST44
Coiled coili934 – 961Sequence analysisAdd BLAST28

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi276 – 395Gly-richAdd BLAST120
Compositional biasi706 – 711Poly-Glu6
Compositional biasi966 – 969Poly-Arg4

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0689. Eukaryota.
ENOG410XSWY. LUCA.
GeneTreeiENSGT00760000119030.
HOVERGENiHBG108500.
InParanoidiQ8TER5.
OMAiVEEEAWD.
OrthoDBiEOG091G016I.
PhylomeDBiQ8TER5.
TreeFamiTF334329.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8TER5-1) [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
MEPEPVEDCV QSTLAALYPP FEATAPTLLG QVFQVVERTY REDALRYTLD
60 70 80 90 100
FLVPAKHLLA KVQQEACAQY SGFLFFHEGW PLCLHEQVVV QLAALPWQLL
110 120 130 140 150
RPGDFYLQVV PSAAQAPRLA LKCLAPGGGR VQEVPVPNEA CAYLFTPEWL
160 170 180 190 200
QGINKDRPTG RLSTCLLSAP SGIQRLPWAE LICPRFVHKE GLMVGHQPST
210 220 230 240 250
LPPELPSGPP GLPSPPLPEE ALGTRSPGDG HNAPVEGPEG EYVELLEVTL
260 270 280 290 300
PVRGSPTDAE GSPGLSRVRT VPTRKGAGGK GRHRRHRAWM HQKGLGPRGQ
310 320 330 340 350
DGARPPGEGS STGASPESPP GAEAVPEAAV LEVSEPPAEA VGEASGSCPL
360 370 380 390 400
RPGELRGGGG GGQGAEGPPG TPRRTGKGNR RKKRAAGRGA LSRGGDSAPL
410 420 430 440 450
SPGDKEDASH QEALGNLPSP SEHKLPECHL VKEEYEGSGK PESEPKELKT
460 470 480 490 500
AGEKEPQLSE ACGPTEEGAG ERELEGPGLL CMAGHTGPEG PLSDTPTPPL
510 520 530 540 550
ETVQEGKGDN IPEEALAVSV SDHPDVAWDL MASGFLILTG GVDQSGRALL
560 570 580 590 600
TITPPCPPEE PPPSRDTLNT TLHYLHSLLR PDLQTLGLSV LLDLRQAPPL
610 620 630 640 650
PPALIPALSQ LQDSGDPPLV QRLLILIHDD LPTELCGFQG AEVLSENDLK
660 670 680 690 700
RVAKPEELQW ELGGHRDPSP SHWVEIHQEV VRLCRLCQGV LGSVRQAIEE
710 720 730 740 750
LEGAAEPEEE EAVGMPKPLQ KVLADPRLTA LQRDGGAILM RLRSTPSSKL
760 770 780 790 800
EGQGPATLYQ EVDEAIHQLV RLSNLHVQQQ EQRQCLRRLQ QVLQWLSGPG
810 820 830 840 850
EEQLASFAMP GDTLSALQET ELRFRAFSAE VQERLAQARE ALALEENATS
860 870 880 890 900
QKVLDIFEQR LEQVESGLHR ALRLQRFFQQ AHEWVDEGFA RLAGAGPGRE
910 920 930 940 950
AVLAALALRR APEPSAGTFQ EMRALALDLG SPAALREWGR CQARCQELER
960 970 980 990 1000
RIQQHVGEEA SPRGYRRRRA DGASSGGAQW GPRSPSPSLS SLLLPSSPGP
1010 1020 1030 1040 1050
RPAPSHCSLA PCGEDYEEEG PELAPEAEGR PPRAVLIRGL EVTSTEVVDR
1060 1070 1080 1090 1100
TCSPREHVLL GRARGPDGPW GVGTPRMERK RSISAQQRLV SELIACEQDY
1110 1120 1130 1140 1150
VATLSEPVPP PGPELTPELR GTWAAALSAR ERLRSFHRTH FLRELQGCAT
1160 1170 1180 1190 1200
HPLRIGACFL RHGDQFSLYA QYVKHRHKLE NGLAALSPLS KGSMEAGPYL
1210 1220 1230 1240 1250
PRALQQPLEQ LTRYGRLLEE LLREAGPELS SECRALGAAV QLLREQEARG
1260 1270 1280 1290 1300
RDLLAVEAVR GCEIDLKEQG QLLHRDPFTV ICGRKKCLRH VFLFEHLLLF
1310 1320 1330 1340 1350
SKLKGPEGGS EMFVYKQAFK TADMGLTENI GDSGLCFELW FRRRRAREAY
1360 1370 1380 1390 1400
TLQATSPEIK LKWTSSIAQL LWRQAAHNKE LRVQQMVSMG IGNKPFLDIK
1410 1420 1430 1440 1450
ALGERTLSAL LTGRAARTRA SVAVSSFEHA GPSLPGLSPG ACSLPARVEE
1460 1470 1480 1490 1500
EAWDLDVKQI SLAPETLDSS GDVSPGPRNS PSLQPPHPGS STPTLASRGI
1510
LGLSRQSHAR ALSDPTTPL
Length:1,519
Mass (Da):164,658
Last modified:May 18, 2010 - v3
Checksum:iE59DD53AE399E2E6
GO
Isoform 2 (identifier: Q8TER5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-714: Missing.

Note: No experimental confirmation available.
Show »
Length:805
Mass (Da):88,758
Checksum:i7DA3D9DEED3284A3
GO
Isoform 3 (identifier: Q8TER5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1415-1519: AARTRASVAV...RALSDPTTPL → GEGQGAGGWP...HPGLRGRVIL

Note: No experimental confirmation available.
Show »
Length:1,498
Mass (Da):162,800
Checksum:i43FB91E06285706E
GO
Isoform 4 (identifier: Q8TER5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1415-1462: Missing.

Note: No experimental confirmation available.
Show »
Length:1,471
Mass (Da):159,698
Checksum:i5FC596887113AA2C
GO

Sequence cautioni

The sequence BAA91563 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15753 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB84883 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti293K → E in BAB15753 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038061956V → L.Combined sources2 PublicationsCorresponds to variant rs7143633dbSNPEnsembl.1
Natural variantiVAR_0380621189L → S.3 PublicationsCorresponds to variant rs1958396dbSNPEnsembl.1
Natural variantiVAR_0380631312M → T.Corresponds to variant rs943992dbSNPEnsembl.1
Natural variantiVAR_0605411418T → P.1 PublicationCorresponds to variant rs17855344dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0303811 – 714Missing in isoform 2. 1 PublicationAdd BLAST714
Alternative sequenceiVSP_0303821415 – 1519AARTR…PTTPL → GEGQGAGGWPPGVKTLTMRI QRGGMVESQERHLVPKSVGL AGRPSVRLRVIPGSQEGFPT PAPHPPLPTLCSRPHPGLRG RVIL in isoform 3. 1 PublicationAdd BLAST105
Alternative sequenceiVSP_0303831415 – 1462Missing in isoform 4. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001219 mRNA. Translation: BAA91563.1. Different initiation.
AK024463 mRNA. Translation: BAB15753.1. Different initiation.
AK074057 mRNA. Translation: BAB84883.1. Different initiation.
AL161668 Genomic DNA. No translation available.
BC000084 mRNA. Translation: AAH00084.4.
BC142692 mRNA. Translation: AAI42693.1.
AL137291 mRNA. Translation: CAB70682.1.
CCDSiCCDS32041.1. [Q8TER5-1]
PIRiT46359.
RefSeqiNP_001265458.1. NM_001278529.1. [Q8TER5-2]
NP_060541.3. NM_018071.4. [Q8TER5-1]
XP_005267901.1. XM_005267844.2. [Q8TER5-4]
UniGeneiHs.35125.

Genome annotation databases

EnsembliENST00000298694; ENSP00000298694; ENSG00000165801. [Q8TER5-1]
GeneIDi55701.
KEGGihsa:55701.
UCSCiuc001vzp.5. human. [Q8TER5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001219 mRNA. Translation: BAA91563.1. Different initiation.
AK024463 mRNA. Translation: BAB15753.1. Different initiation.
AK074057 mRNA. Translation: BAB84883.1. Different initiation.
AL161668 Genomic DNA. No translation available.
BC000084 mRNA. Translation: AAH00084.4.
BC142692 mRNA. Translation: AAI42693.1.
AL137291 mRNA. Translation: CAB70682.1.
CCDSiCCDS32041.1. [Q8TER5-1]
PIRiT46359.
RefSeqiNP_001265458.1. NM_001278529.1. [Q8TER5-2]
NP_060541.3. NM_018071.4. [Q8TER5-1]
XP_005267901.1. XM_005267844.2. [Q8TER5-4]
UniGeneiHs.35125.

3D structure databases

ProteinModelPortaliQ8TER5.
SMRiQ8TER5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120826. 7 interactors.
IntActiQ8TER5. 5 interactors.
MINTiMINT-1409884.
STRINGi9606.ENSP00000298694.

PTM databases

iPTMnetiQ8TER5.
PhosphoSitePlusiQ8TER5.

Polymorphism and mutation databases

DMDMi296452953.

Proteomic databases

EPDiQ8TER5.
MaxQBiQ8TER5.
PaxDbiQ8TER5.
PeptideAtlasiQ8TER5.
PRIDEiQ8TER5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298694; ENSP00000298694; ENSG00000165801. [Q8TER5-1]
GeneIDi55701.
KEGGihsa:55701.
UCSCiuc001vzp.5. human. [Q8TER5-1]

Organism-specific databases

CTDi55701.
GeneCardsiARHGEF40.
H-InvDBHIX0001353.
HIX0011501.
HGNCiHGNC:25516. ARHGEF40.
HPAiHPA030746.
HPA030757.
MIMi610018. gene.
neXtProtiNX_Q8TER5.
OpenTargetsiENSG00000165801.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0689. Eukaryota.
ENOG410XSWY. LUCA.
GeneTreeiENSGT00760000119030.
HOVERGENiHBG108500.
InParanoidiQ8TER5.
OMAiVEEEAWD.
OrthoDBiEOG091G016I.
PhylomeDBiQ8TER5.
TreeFamiTF334329.

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.

Miscellaneous databases

ChiTaRSiARHGEF40. human.
GenomeRNAii55701.
PROiQ8TER5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165801.
ExpressionAtlasiQ8TER5. baseline and differential.
GenevisibleiQ8TER5. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARH40_HUMAN
AccessioniPrimary (citable) accession number: Q8TER5
Secondary accession number(s): A5PL07
, Q9BWP5, Q9H7L6, Q9NTF9, Q9NW24
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 106 of the entry and version 3 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 14
    Human chromosome 14: 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.