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Protein

Rho guanine nucleotide exchange factor 10

Gene

ARHGEF10

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

Functioni

May play a role in developmental myelination of peripheral nerves.1 Publication

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: GO_Central
  • kinesin binding Source: BHF-UCL
  • Rho guanyl-nucleotide exchange factor activity Source: BHF-UCL

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 10
Gene namesi
Name:ARHGEF10
Synonyms:KIAA0294
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104728.15
HGNCiHGNC:14103 ARHGEF10
MIMi608136 gene
neXtProtiNX_O15013

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

Pathology & Biotechi

Involvement in diseasei

Slowed nerve conduction velocity (SNCV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAffected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant.
See also OMIM:608236
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019118357T → I in SNCV. 1 PublicationCorresponds to variant dbSNP:rs28940281Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1338Q → R: Abolishes methylation by N6AMT1. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9639
MalaCardsiARHGEF10
MIMi608236 phenotype
OpenTargetsiENSG00000104728
Orphaneti140481 Autosomal dominant slowed nerve conduction velocity
PharmGKBiPA24967

Polymorphism and mutation databases

BioMutaiARHGEF10

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809261 – 1369Rho guanine nucleotide exchange factor 10Add BLAST1369

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei180PhosphoserineBy similarity1
Modified residuei379PhosphoserineCombined sources1
Modified residuei1287PhosphoserineCombined sources1
Modified residuei1338N5-methylglutamine1 Publication1

Post-translational modificationi

Methylated at Gln-1338 by N6AMT1.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiO15013
MaxQBiO15013
PaxDbiO15013
PeptideAtlasiO15013
PRIDEiO15013
ProteomicsDBi48364
48365 [O15013-4]
48366 [O15013-5]
48367 [O15013-6]
48368 [O15013-7]

PTM databases

iPTMnetiO15013
PhosphoSitePlusiO15013

Expressioni

Gene expression databases

BgeeiENSG00000104728 Expressed in 227 organ(s), highest expression level in tibial nerve
CleanExiHS_ARHGEF10
ExpressionAtlasiO15013 baseline and differential
GenevisibleiO15013 HS

Organism-specific databases

HPAiHPA024649

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KIF3BO150663EBI-2515636,EBI-3931791

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114998, 14 interactors
IntActiO15013, 5 interactors
STRINGi9606.ENSP00000340297

Structurei

3D structure databases

ProteinModelPortaliO15013
SMRiO15013
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini421 – 608DHPROSITE-ProRule annotationAdd BLAST188

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili304 – 355Sequence analysisAdd BLAST52

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1271 – 1304Ser-richAdd BLAST34

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3522 Eukaryota
ENOG410ZJK1 LUCA
GeneTreeiENSGT00670000097546
HOGENOMiHOG000232060
HOVERGENiHBG050570
InParanoidiO15013
KOiK16727
OMAiMCATVSA
OrthoDBiEOG091G0A3T
PhylomeDBiO15013
TreeFamiTF331430

Family and domain databases

CDDicd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR030632 ARHGEF10
IPR039919 ARHGEF10/ARHGEF17
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR12877 PTHR12877, 1 hit
PTHR12877:SF14 PTHR12877:SF14, 1 hit
PfamiView protein in Pfam
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15013-1) [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
MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE
60 70 80 90 100
EGEQFDFDSG DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP
110 120 130 140 150
VAEPTKLVLP MKVNPYSVID ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL
160 170 180 190 200
VPVPCGYAVP SNLPLLLPAY SSPVIICATS LDEEAETPEV TEDRQPNSLS
210 220 230 240 250
SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD DVPRENSDSE
260 270 280 290 300
PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR
310 320 330 340 350
SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV
360 370 380 390 400
KAAKDGTKDG LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD
410 420 430 440 450
CKHPEAILTP MPEGLSQQQV VRRYILGSVV DSEKNYVDAL KRILEQYEKP
460 470 480 490 500
LSEMEPKVLS ERKLKTVFYR VKEILQCHSL FQIALASRVS EWDSVEMIGD
510 520 530 540 550
VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL EFLKQEQEAS
560 570 580 590 600
PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET
610 620 630 640 650
LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET
660 670 680 690 700
VYNDRGEIVK TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV
710 720 730 740 750
PLGHVDAIEY GSSAGTGEHS RHLAVHPPES LAVVANAKPN KVYMGPGQLY
760 770 780 790 800
QDLQNLLHDL NVIGQITQLI GNLKGNYQNL NQSVAHDWTS GLQRLILKKE
810 820 830 840 850
DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK ESWVNSLQMA
860 870 880 890 900
KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIECAA
910 920 930 940 950
YNPEPYLNNE SQPDSFSTAH GFLWIGSCTH QMGQIAIVSF QNSTPKVIEC
960 970 980 990 1000
FNVESRILCM LYVPVEEKRR EPGAPPDPET PAVRASDVPT ICVGTEEGSI
1010 1020 1030 1040 1050
SIYKSSQGSK KVRLQHFFTP EKSTVMSLAC TSQSLYAGLV NGAVASYARA
1060 1070 1080 1090 1100
PDGSWDSEPQ KVIKLGVLPV RSLLMMEDTL WAASGGQVFI ISVETHAVEG
1110 1120 1130 1140 1150
QLEAHQEEGM VISHMAVSGV GIWIAFTSGS TLRLFHTETL KHLQDINIAT
1160 1170 1180 1190 1200
PVHNMLPGHQ RLSVTSLLVC HGLLMVGTSL GVLVALPVPR LQGIPKVTGR
1210 1220 1230 1240 1250
GMVSYHAHNS PVKFIVLATA LHEKDKDKSR DSLAPGPEPQ DEDQKDALPS
1260 1270 1280 1290 1300
GGAGSSLSQG DPDAAIWLGD SLGSMTQKSD LSSSSGSLSL SHGSSSLEHR
1310 1320 1330 1340 1350
SEDSTIYDLL KDPVSLRSKA RRAKKAKASS ALVVCGGQGH RRVHRKARQP
1360
HQEELAPTVM VWQIPLLNI
Note: No experimental confirmation available.
Length:1,369
Mass (Da):151,612
Last modified:June 27, 2006 - v4
Checksum:i6F87869C7C6A5759
GO
Isoform 2 (identifier: O15013-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     545-545: Missing.

Show »
Length:1,368
Mass (Da):151,483
Checksum:iDD1BB1820F4D85E4
GO
Isoform 3 (identifier: O15013-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     307-345: Missing.

Show »
Length:1,306
Mass (Da):144,269
Checksum:i051A631DCB20F225
GO
Isoform 4 (identifier: O15013-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     897-925: Missing.

Note: No experimental confirmation available.
Show »
Length:1,340
Mass (Da):148,328
Checksum:i80938B8E9F3189D1
GO
Isoform 5 (identifier: O15013-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     185-185: Missing.

Show »
Length:1,344
Mass (Da):148,869
Checksum:iE1BF9D9ACCB20E3A
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAN8H0YAN8_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF10
988Annotation score:
E9PB39E9PB39_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF10
380Annotation score:

Sequence cautioni

The sequence AAH36809 differs from that shown. Probable cloning artifact.Curated
The sequence AAH40474 differs from that shown. Probable cloning artifact.Curated
The sequence BAA20754 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH18365 differs from that shown. Reason: Erroneous termination at position 895. Translated as Lys.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti395L → F in AAI12927 (PubMed:15489334).Curated1
Sequence conflicti500D → V in AAH40474 (PubMed:15489334).Curated1
Sequence conflicti1024T → S in AAB71662 (PubMed:9314494).Curated1
Sequence conflicti1046S → T in AAB71662 (PubMed:9314494).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073288227N → H Found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767902219Ensembl.1
Natural variantiVAR_019118357T → I in SNCV. 1 PublicationCorresponds to variant dbSNP:rs28940281Ensembl.1
Natural variantiVAR_038603700V → I. Corresponds to variant dbSNP:rs2294039EnsemblClinVar.1
Natural variantiVAR_057188725V → I. Corresponds to variant dbSNP:rs2294039EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0407541 – 24Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST24
Alternative sequenceiVSP_040755185Missing in isoform 5. 1 Publication1
Alternative sequenceiVSP_040756307 – 345Missing in isoform 3. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_040757545Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_010704897 – 925Missing in isoform 4. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749570 mRNA Translation: CAH18365.1 Different termination.
AB002292 mRNA Translation: BAA20754.2 Different initiation.
AC019257 Genomic DNA No translation available.
BC036809 mRNA Translation: AAH36809.1 Sequence problems.
BC040474 mRNA Translation: AAH40474.1 Sequence problems.
BC112926 mRNA Translation: AAI12927.1
AF009205 mRNA Translation: AAB71662.1
CCDSiCCDS34794.1 [O15013-5]
CCDS78296.1 [O15013-6]
CCDS78297.1 [O15013-7]
PIRiT03307
RefSeqiNP_001295081.1, NM_001308152.1 [O15013-7]
NP_001295082.1, NM_001308153.1 [O15013-6]
NP_055444.2, NM_014629.3 [O15013-5]
XP_016869492.1, XM_017014003.1 [O15013-1]
UniGeneiHs.98594

Genome annotation databases

EnsembliENST00000349830; ENSP00000340297; ENSG00000104728 [O15013-5]
ENST00000398564; ENSP00000381571; ENSG00000104728 [O15013-1]
ENST00000518288; ENSP00000431012; ENSG00000104728 [O15013-6]
ENST00000520359; ENSP00000427909; ENSG00000104728 [O15013-7]
ENST00000610399; ENSP00000481974; ENSG00000274726 [O15013-1]
ENST00000619613; ENSP00000477988; ENSG00000274726 [O15013-5]
ENST00000631758; ENSP00000488343; ENSG00000274726 [O15013-7]
ENST00000633616; ENSP00000488463; ENSG00000274726 [O15013-6]
GeneIDi9639
KEGGihsa:9639
UCSCiuc003wpr.4 human [O15013-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749570 mRNA Translation: CAH18365.1 Different termination.
AB002292 mRNA Translation: BAA20754.2 Different initiation.
AC019257 Genomic DNA No translation available.
BC036809 mRNA Translation: AAH36809.1 Sequence problems.
BC040474 mRNA Translation: AAH40474.1 Sequence problems.
BC112926 mRNA Translation: AAI12927.1
AF009205 mRNA Translation: AAB71662.1
CCDSiCCDS34794.1 [O15013-5]
CCDS78296.1 [O15013-6]
CCDS78297.1 [O15013-7]
PIRiT03307
RefSeqiNP_001295081.1, NM_001308152.1 [O15013-7]
NP_001295082.1, NM_001308153.1 [O15013-6]
NP_055444.2, NM_014629.3 [O15013-5]
XP_016869492.1, XM_017014003.1 [O15013-1]
UniGeneiHs.98594

3D structure databases

ProteinModelPortaliO15013
SMRiO15013
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114998, 14 interactors
IntActiO15013, 5 interactors
STRINGi9606.ENSP00000340297

PTM databases

iPTMnetiO15013
PhosphoSitePlusiO15013

Polymorphism and mutation databases

BioMutaiARHGEF10

Proteomic databases

EPDiO15013
MaxQBiO15013
PaxDbiO15013
PeptideAtlasiO15013
PRIDEiO15013
ProteomicsDBi48364
48365 [O15013-4]
48366 [O15013-5]
48367 [O15013-6]
48368 [O15013-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000349830; ENSP00000340297; ENSG00000104728 [O15013-5]
ENST00000398564; ENSP00000381571; ENSG00000104728 [O15013-1]
ENST00000518288; ENSP00000431012; ENSG00000104728 [O15013-6]
ENST00000520359; ENSP00000427909; ENSG00000104728 [O15013-7]
ENST00000610399; ENSP00000481974; ENSG00000274726 [O15013-1]
ENST00000619613; ENSP00000477988; ENSG00000274726 [O15013-5]
ENST00000631758; ENSP00000488343; ENSG00000274726 [O15013-7]
ENST00000633616; ENSP00000488463; ENSG00000274726 [O15013-6]
GeneIDi9639
KEGGihsa:9639
UCSCiuc003wpr.4 human [O15013-1]

Organism-specific databases

CTDi9639
DisGeNETi9639
EuPathDBiHostDB:ENSG00000104728.15
GeneCardsiARHGEF10
HGNCiHGNC:14103 ARHGEF10
HPAiHPA024649
MalaCardsiARHGEF10
MIMi608136 gene
608236 phenotype
neXtProtiNX_O15013
OpenTargetsiENSG00000104728
Orphaneti140481 Autosomal dominant slowed nerve conduction velocity
PharmGKBiPA24967
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3522 Eukaryota
ENOG410ZJK1 LUCA
GeneTreeiENSGT00670000097546
HOGENOMiHOG000232060
HOVERGENiHBG050570
InParanoidiO15013
KOiK16727
OMAiMCATVSA
OrthoDBiEOG091G0A3T
PhylomeDBiO15013
TreeFamiTF331430

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

ChiTaRSiARHGEF10 human
GeneWikiiARHGEF10
GenomeRNAii9639
PROiPR:O15013
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104728 Expressed in 227 organ(s), highest expression level in tibial nerve
CleanExiHS_ARHGEF10
ExpressionAtlasiO15013 baseline and differential
GenevisibleiO15013 HS

Family and domain databases

CDDicd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR030632 ARHGEF10
IPR039919 ARHGEF10/ARHGEF17
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR12877 PTHR12877, 1 hit
PTHR12877:SF14 PTHR12877:SF14, 1 hit
PfamiView protein in Pfam
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiARHGA_HUMAN
AccessioniPrimary (citable) accession number: O15013
Secondary accession number(s): O14665
, Q2KHR8, Q68D55, Q8IWD9, Q8IY77
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: June 27, 2006
Last modified: November 7, 2018
This is version 158 of the entry and version 4 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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