Reviewed, UniProtKB/Swiss-Prot O15013 (ARHGA_HUMAN)

Names and origin

Protein names

Recommended name:
    Rho guanine nucleotide exchange factor 10

Gene names

Name:	ARHGEF10
Synonyms:	KIAA0294

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1369 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in developmental myelination of peripheral nerves.
Involvement in disease	Defects in ARHGEF10 are the cause of slowed nerve conduction velocity (SNCV) [MIM:608236]. Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant.
Sequence similarities	Contains 1 DH (DBL-homology) domain.
Sequence caution	BAA20754.2 sequence differs from that shown. Reason: Miscellaneous discrepancy. Cloning artifact. CAH18365.1 sequence differs from that shown. Reason: Erroneous termination at position 895. Translated as Lys.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Coiled coil
Molecular function	Guanine-nucleotide releasing factor
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O15013-1)

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.

Isoform 2 (identifier: O15013-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-248: Missing.
     249-251: SEP → MHS
     307-345: Missing.
     925-948: IGSCTHQMGQIAIVSFQNSTPKVI → VRCVYLVLVQVHRESTFMVGVMRD
     949-1369: Missing.

Notes: No experimental confirmation available.

Isoform 3 (identifier: O15013-3)

The sequence of this isoform differs from the canonical sequence as follows:
     307-345: Missing.
     633-649: LLSSGSRYLIRSDDMIE → VERGFLQLYSKIIFALC
     650-1369: Missing.

Notes: No experimental confirmation available.

Isoform 4 (identifier: O15013-4)

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

Notes: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 1369	1369	Rho guanine nucleotide exchange factor 10
Regions
	Domain	191 – 378	188	DH
	Coiled coil	75 – 95	21	Potential
	Coiled coil	104 – 124	21	Potential
	Coiled coil	360 – 394	35	Potential
	Compositional bias	1041 – 1074	34	Ser-rich
Natural variations
	Alternative sequence	1 – 248	248	Missing in isoform 2.
	Alternative sequence	249 – 251	3	SEP → MHS in isoform 2.
	Alternative sequence	307 – 345	39	Missing in isoform 2 and isoform 3.
	Alternative sequence	633 – 649	17	LLSSG…DDMIE → VERGFLQLYSKIIFALC in isoform 3.
	Alternative sequence	650 – 1369	720	Missing in isoform 3.
	Alternative sequence	897 – 925	29	Missing in isoform 4.
	Alternative sequence	925 – 948	24	IGSCT…TPKVI → VRCVYLVLVQVHRESTFMVG VMRD in isoform 2.
	Alternative sequence	949 – 1369	421	Missing in isoform 2.
	Natural variant	357	1	T → I in SNCV.
	Natural variant	700	1	V → I: dbSNP rs2294039.
Experimental info
	Sequence conflict	185	1	Missing in BAA20754. Ref.2
	Sequence conflict	500	1	D → V in AAH40474. Ref.4
	Sequence conflict	545	1	Missing in CAH18365. Ref.1
	Sequence conflict	857	1	Missing in AAH36809. Ref.4
	Sequence conflict	1024	1	T → S in AAB71662. Ref.5
	Sequence conflict	1046	1	S → T in AAB71662. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 4. Checksum: 6F87869C7C6A5759	FASTA	1,369	151,612
	10 20 30 40 50 60 MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG 70 80 90 100 110 120 DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID 130 140 150 160 170 180 ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS 190 200 210 220 230 240 LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD 250 260 270 280 290 300 DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR 310 320 330 340 350 360 SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGTKDG 370 380 390 400 410 420 LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV 430 440 450 460 470 480 VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL 490 500 510 520 530 540 FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL 550 560 570 580 590 600 EFLKQEQEAS PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET 610 620 630 640 650 660 LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET VYNDRGEIVK 670 680 690 700 710 720 TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV PLGHVDAIEY GSSAGTGEHS 730 740 750 760 770 780 RHLAVHPPES LAVVANAKPN KVYMGPGQLY QDLQNLLHDL NVIGQITQLI GNLKGNYQNL 790 800 810 820 830 840 NQSVAHDWTS GLQRLILKKE DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK 850 860 870 880 890 900 ESWVNSLQMA KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIECAA 910 920 930 940 950 960 YNPEPYLNNE SQPDSFSTAH GFLWIGSCTH QMGQIAIVSF QNSTPKVIEC FNVESRILCM 970 980 990 1000 1010 1020 LYVPVEEKRR EPGAPPDPET PAVRASDVPT ICVGTEEGSI SIYKSSQGSK KVRLQHFFTP 1030 1040 1050 1060 1070 1080 EKSTVMSLAC TSQSLYAGLV NGAVASYARA PDGSWDSEPQ KVIKLGVLPV RSLLMMEDTL 1090 1100 1110 1120 1130 1140 WAASGGQVFI ISVETHAVEG QLEAHQEEGM VISHMAVSGV GIWIAFTSGS TLRLFHTETL 1150 1160 1170 1180 1190 1200 KHLQDINIAT PVHNMLPGHQ RLSVTSLLVC HGLLMVGTSL GVLVALPVPR LQGIPKVTGR 1210 1220 1230 1240 1250 1260 GMVSYHAHNS PVKFIVLATA LHEKDKDKSR DSLAPGPEPQ DEDQKDALPS GGAGSSLSQG 1270 1280 1290 1300 1310 1320 DPDAAIWLGD SLGSMTQKSD LSSSSGSLSL SHGSSSLEHR SEDSTIYDLL KDPVSLRSKA 1330 1340 1350 1360 RRAKKAKASS ALVVCGGQGH RRVHRKARQP HQEELAPTVM VWQIPLLNI
	Isoform 2 [UniParc]. Checksum: 056D50EA521D6F88		661	75,449
	10 20 30 40 50 60 MHSDEMIYDD VENGDEGGNS SLEYGWSSSE FESYEEQSDS ECKNGIPRSF LRSNHKKQMQ 70 80 90 100 110 120 KLVKAAKDGT KDGLERTRAA VKRGRSFIRT KSLIAQDHRS SLEEEQNLFI DVDCKHPEAI 130 140 150 160 170 180 LTPMPEGLSQ QQVVRRYILG SVVDSEKNYV DALKRILEQY EKPLSEMEPK VLSERKLKTV 190 200 210 220 230 240 FYRVKEILQC HSLFQIALAS RVSEWDSVEM IGDVFVASFS KSMVLDAYSE YVNNFSTAVA 250 260 270 280 290 300 VLKKTCATKP AFLEFLKQEQ EASPDRTTLY SLMMKPIQRF PQFILLLQDM LKNTSKGHPD 310 320 330 340 350 360 RLPLQMALTE LETLAEKLNE RKRDADQRCE VKQIAKAINE RYLNKLLSSG SRYLIRSDDM 370 380 390 400 410 420 IETVYNDRGE IVKTKERRVF MLNDVLMCAT VSSRPSHDSR VMSSQRYLLK WSVPLGHVDA 430 440 450 460 470 480 IEYGSSAGTG EHSRHLAVHP PESLAVVANA KPNKVYMGPG QLYQDLQNLL HDLNVIGQIT 490 500 510 520 530 540 QLIGNLKGNY QNLNQSVAHD WTSGLQRLIL KKEDEIRAAD CCRIQLQLPG KQDKSGRPTF 550 560 570 580 590 600 FTAVFNTFTP AIKESWVNSL QMAKLALEEE NHMGWFCVED DGNHIKKEKH PLLVGHMPVM 610 620 630 640 650 660 VAKQQEFKIE CAAYNPEPYL NNESQPDSFS TAHGFLWVRC VYLVLVQVHR ESTFMVGVMR D
	Isoform 3 [UniParc]. Checksum: 471672C221F9A002		610	68,222
	10 20 30 40 50 60 MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG 70 80 90 100 110 120 DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID 130 140 150 160 170 180 ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS 190 200 210 220 230 240 LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD 250 260 270 280 290 300 DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR 310 320 330 340 350 360 SNHKKQMQKL VKAAKDGTKD GLERTRAAVK RGRSFIRTKS LIAQDHRSSL EEEQNLFIDV 370 380 390 400 410 420 DCKHPEAILT PMPEGLSQQQ VVRRYILGSV VDSEKNYVDA LKRILEQYEK PLSEMEPKVL 430 440 450 460 470 480 SERKLKTVFY RVKEILQCHS LFQIALASRV SEWDSVEMIG DVFVASFSKS MVLDAYSEYV 490 500 510 520 530 540 NNFSTAVAVL KKTCATKPAF LEFLKQEQEA SPDRTTLYSL MMKPIQRFPQ FILLLQDMLK 550 560 570 580 590 600 NTSKGHPDRL PLQMALTELE TLAEKLNERK RDADQRCEVK QIAKAINERY LNKVERGFLQ 610 LYSKIIFALC
	Isoform 4 [UniParc]. Checksum: 80938B8E9F3189D1		1,340	148,328
	10 20 30 40 50 60 MRPPGFLSRA PSLNRAERGI WSCSMDQREP LPPAPAENEM KYDTNNNEEE EGEQFDFDSG 70 80 90 100 110 120 DEIPEADRQA PSAPETGGAG ASEAPAPTGG EDGAGAETTP VAEPTKLVLP MKVNPYSVID 130 140 150 160 170 180 ITPFQEDQPP TPVPSAEEEN VGLHVPCGYL VPVPCGYAVP SNLPLLLPAY SSPVIICATS 190 200 210 220 230 240 LDEEAETPEV TEDRQPNSLS SEEPPTSEDQ VGREDSALAR WAADPANTAW MENPEEAIYD 250 260 270 280 290 300 DVPRENSDSE PDEMIYDDVE NGDEGGNSSL EYGWSSSEFE SYEEQSDSEC KNGIPRSFLR 310 320 330 340 350 360 SNHKKQLSHD LTRLKEHYEK KMRDLMASTV GVVEIQQLRQ KHELKMQKLV KAAKDGTKDG 370 380 390 400 410 420 LERTRAAVKR GRSFIRTKSL IAQDHRSSLE EEQNLFIDVD CKHPEAILTP MPEGLSQQQV 430 440 450 460 470 480 VRRYILGSVV DSEKNYVDAL KRILEQYEKP LSEMEPKVLS ERKLKTVFYR VKEILQCHSL 490 500 510 520 530 540 FQIALASRVS EWDSVEMIGD VFVASFSKSM VLDAYSEYVN NFSTAVAVLK KTCATKPAFL 550 560 570 580 590 600 EFLKQEQEAS PDRTTLYSLM MKPIQRFPQF ILLLQDMLKN TSKGHPDRLP LQMALTELET 610 620 630 640 650 660 LAEKLNERKR DADQRCEVKQ IAKAINERYL NKLLSSGSRY LIRSDDMIET VYNDRGEIVK 670 680 690 700 710 720 TKERRVFMLN DVLMCATVSS RPSHDSRVMS SQRYLLKWSV PLGHVDAIEY GSSAGTGEHS 730 740 750 760 770 780 RHLAVHPPES LAVVANAKPN KVYMGPGQLY QDLQNLLHDL NVIGQITQLI GNLKGNYQNL 790 800 810 820 830 840 NQSVAHDWTS GLQRLILKKE DEIRAADCCR IQLQLPGKQD KSGRPTFFTA VFNTFTPAIK 850 860 870 880 890 900 ESWVNSLQMA KLALEEENHM GWFCVEDDGN HIKKEKHPLL VGHMPVMVAK QQEFKIGSCT 910 920 930 940 950 960 HQMGQIAIVS FQNSTPKVIE CFNVESRILC MLYVPVEEKR REPGAPPDPE TPAVRASDVP 970 980 990 1000 1010 1020 TICVGTEEGS ISIYKSSQGS KKVRLQHFFT PEKSTVMSLA CTSQSLYAGL VNGAVASYAR 1030 1040 1050 1060 1070 1080 APDGSWDSEP QKVIKLGVLP VRSLLMMEDT LWAASGGQVF IISVETHAVE GQLEAHQEEG 1090 1100 1110 1120 1130 1140 MVISHMAVSG VGIWIAFTSG STLRLFHTET LKHLQDINIA TPVHNMLPGH QRLSVTSLLV 1150 1160 1170 1180 1190 1200 CHGLLMVGTS LGVLVALPVP RLQGIPKVTG RGMVSYHAHN SPVKFIVLAT ALHEKDKDKS 1210 1220 1230 1240 1250 1260 RDSLAPGPEP QDEDQKDALP SGGAGSSLSQ GDPDAAIWLG DSLGSMTQKS DLSSSSGSLS 1270 1280 1290 1300 1310 1320 LSHGSSSLEH RSEDSTIYDL LKDPVSLRSK ARRAKKAKAS SALVVCGGQG HRRVHRKARQ 1330 1340 PHQEELAPTV MVWQIPLLNI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	The German cDNA consortium Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[2]	"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-1369 (ISOFORM 1). Tissue: Brain.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 89-1369 (ISOFORM 3). Tissue: Duodenum and Prostate.
[5]	"High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p." Ranta S., Lehesjoki A.-E., de Fatima Bonaldo M., Knowles J.A., Hirvasniemi A., Ross B., de Jong P.J., Soares M.B., de la Chapelle A., Gilliam T.C. Genome Res. 7:887-896(1997) [PubMed: 9314494] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 353-1369 (ISOFORM 4). Tissue: Brain.
[6]	"Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10." Verhoeven K., De Jonghe P., Van de Putte T., Nelis E., Zwijsen A., Verpoorten N., De Vriendt E., Jacobs A., Van Gerwen V., Francis A., Ceuterick C., Huylebroeck D., Timmerman V. Am. J. Hum. Genet. 73:926-932(2003) [PubMed: 14508709] [Abstract] Cited for: FUNCTION, VARIANT SNCV ILE-357.

Cross-references

Sequence databases
EMBLGenBankDDBJ	CR749570 mRNA. Translation: CAH18365.1. Different termination. AB002292 mRNA. Translation: BAA20754.2. Sequence problems. BC036809 mRNA. Translation: AAH36809.1. BC040474 mRNA. Translation: AAH40474.1. Sequence problems. AF009205 mRNA. Translation: AAB71662.1.
PIR	T03307.
RefSeq	NP_055444.2.
UniGene	Hs.98594
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	O15013.
Genome annotation databases
Ensembl	ENSG00000104728. Homo sapiens. [Contig view]
GeneID	9639.
KEGG	hsa:9639.
Organism-specific databases
HGNC	HGNC:14103. ARHGEF10.
MIM	608136. gene. 608236. phenotype.
PharmGKB	PA24967.
HUGE	Search...
GenAtlas	Search...
GeneCards	Search...
GeneLynx	Search...
Phylogenomic databases
HOGENOM	O15013.
HOVERGEN	O15013.
Gene expression databases
ArrayExpress	O15013.
CleanEx	HS_ARHGEF10.
GermOnline	ENSG00000104728. Homo sapiens.
Family and domain databases
InterPro	IPR000219. DH-domain. IPR001331. GDS_CDC24_CS. [Graphical view]
Gene3D	G3DSA:1.20.900.10. RhoGEF. 1 hit.
Pfam	PF00621. RhoGEF. 1 hit. [Graphical view]
SMART	SM00325. RhoGEF. 1 hit. [Graphical view]
PROSITE	PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. [Graphical view]
ProDom	O15013. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

ARHGA_HUMAN

Accession

Primary (citable) accession number: O15013
Secondary accession number(s): O14665 , Q68D55, Q8IWD9, Q8IY77

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2004
Last sequence update:	June 27, 2006
Last modified:	July 22, 2008
This is version 61 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)