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Protein

Rho guanine nucleotide exchange factor 10

Gene

ARHGEF10

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

Functioni

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

GO - Molecular functioni

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

GO - Biological processi

  • activation of GTPase activity Source: BHF-UCL
  • centrosome duplication Source: BHF-UCL
  • mitotic spindle assembly Source: BHF-UCL
  • myelination in peripheral nervous system Source: BHF-UCL
  • positive regulation of stress fiber assembly Source: BHF-UCL
  • regulation of Rho protein signal transduction Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104728-MONOMER.
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

HGNCiHGNC:14103. ARHGEF10.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: BHF-UCL
  • cytosol Source: BHF-UCL
Complete GO annotation...

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 rs28940281dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9639.
MalaCardsiARHGEF10.
MIMi608236. phenotype.
OpenTargetsiENSG00000104728.
ENSG00000274726.
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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15013.
MaxQBiO15013.
PaxDbiO15013.
PeptideAtlasiO15013.
PRIDEiO15013.

PTM databases

iPTMnetiO15013.
PhosphoSitePlusiO15013.

Expressioni

Gene expression databases

BgeeiENSG00000104728.
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

  • kinesin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi114998. 14 interactors.
IntActiO15013. 2 interactors.
STRINGi9606.ENSP00000340297.

Structurei

3D structure databases

ProteinModelPortaliO15013.
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

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.130.10.10. 1 hit.
InterProiIPR030632. ARHGEF10.
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR12877:SF14. PTHR12877:SF14. 1 hit.
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 2 hits.
SSF50978. SSF50978. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

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

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 rs767902219dbSNPEnsembl.1
Natural variantiVAR_019118357T → I in SNCV. 1 PublicationCorresponds to variant rs28940281dbSNPEnsembl.1
Natural variantiVAR_038603700V → I.Corresponds to variant rs2294039dbSNPEnsembl.1
Natural variantiVAR_057188725V → I.Corresponds to variant rs2294039dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114998. 14 interactors.
IntActiO15013. 2 interactors.
STRINGi9606.ENSP00000340297.

PTM databases

iPTMnetiO15013.
PhosphoSitePlusiO15013.

Polymorphism and mutation databases

BioMutaiARHGEF10.

Proteomic databases

EPDiO15013.
MaxQBiO15013.
PaxDbiO15013.
PeptideAtlasiO15013.
PRIDEiO15013.

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.
GeneCardsiARHGEF10.
HGNCiHGNC:14103. ARHGEF10.
HPAiHPA024649.
MalaCardsiARHGEF10.
MIMi608136. gene.
608236. phenotype.
neXtProtiNX_O15013.
OpenTargetsiENSG00000104728.
ENSG00000274726.
Orphaneti140481. Autosomal dominant slowed nerve conduction velocity.
PharmGKBiPA24967.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104728-MONOMER.
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

GeneWikiiARHGEF10.
GenomeRNAii9639.
PROiO15013.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104728.
CleanExiHS_ARHGEF10.
ExpressionAtlasiO15013. baseline and differential.
GenevisibleiO15013. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.130.10.10. 1 hit.
InterProiIPR030632. ARHGEF10.
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR12877:SF14. PTHR12877:SF14. 1 hit.
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 2 hits.
SSF50978. SSF50978. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARHGA_HUMAN
AccessioniPrimary (citable) accession number: O15013
Secondary accession number(s): O14665
, Q2KHR8, Q68D55, Q8IWD9, Q8IY77
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2004
Last sequence update: June 27, 2006
Last modified: November 30, 2016
This is version 140 of the entry and version 4 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 8
    Human chromosome 8: 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.