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Q8TER5 (ARH40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 61. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rho guanine nucleotide exchange factor 40
Alternative name(s):
Protein SOLO
Gene names
Name:ARHGEF40
Synonyms:SOLO
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1519 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cytoplasm. Note: Concentrated in the perinuclear region. Ref.5

Tissue specificity

Expressed at higher level in the central nervous system and skeletal muscle and greater abundance in fetal than adult brain (at protein level). Ref.5

Sequence similarities

Contains 1 DH (DBL-homology) domain.

Contains 1 PH domain.

Sequence caution

The sequence BAA91563.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB15753.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAB84883.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Molecular functionGuanine-nucleotide releasing factor
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processregulation of Rho protein signal transduction

Inferred from electronic annotation. Source: InterPro

   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionRho guanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TER5-1)

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: Q8TER5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-714: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8TER5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1415-1519: AARTRASVAV...RALSDPTTPL → GEGQGAGGWP...HPGLRGRVIL
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8TER5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1415-1462: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15191519Rho guanine nucleotide exchange factor 40
PRO_0000314822

Regions

Domain1085 – 1253169DH
Domain1265 – 1372108PH
Coiled coil828 – 87144 Potential
Coiled coil934 – 96128 Potential
Compositional bias276 – 395120Gly-rich
Compositional bias706 – 7116Poly-Glu
Compositional bias966 – 9694Poly-Arg

Amino acid modifications

Modified residue2621Phosphoserine Ref.7 Ref.8
Modified residue3711Phosphothreonine Ref.7
Modified residue9311Phosphoserine Ref.6
Modified residue9611Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 714714Missing in isoform 2.
VSP_030381
Alternative sequence1415 – 1519105AARTR…PTTPL → GEGQGAGGWPPGVKTLTMRI QRGGMVESQERHLVPKSVGL AGRPSVRLRVIPGSQEGFPT PAPHPPLPTLCSRPHPGLRG RVIL in isoform 3.
VSP_030382
Alternative sequence1415 – 146248Missing in isoform 4.
VSP_030383
Natural variant9561V → L. Ref.1 Ref.4
Corresponds to variant rs7143633 [ dbSNP | Ensembl ].
VAR_038061
Natural variant11891L → S. Ref.1 Ref.3 Ref.4
Corresponds to variant rs1958396 [ dbSNP | Ensembl ].
VAR_038062
Natural variant13121M → T.
Corresponds to variant rs943992 [ dbSNP | Ensembl ].
VAR_038063
Natural variant14181T → P. Ref.3
Corresponds to variant rs17855344 [ dbSNP | Ensembl ].
VAR_060541

Experimental info

Sequence conflict2931K → E in BAB15753. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: E59DD53AE399E2E6

FASTA1,519164,658
        10         20         30         40         50         60 
MEPEPVEDCV QSTLAALYPP FEATAPTLLG QVFQVVERTY REDALRYTLD FLVPAKHLLA 

        70         80         90        100        110        120 
KVQQEACAQY SGFLFFHEGW PLCLHEQVVV QLAALPWQLL RPGDFYLQVV PSAAQAPRLA 

       130        140        150        160        170        180 
LKCLAPGGGR VQEVPVPNEA CAYLFTPEWL QGINKDRPTG RLSTCLLSAP SGIQRLPWAE 

       190        200        210        220        230        240 
LICPRFVHKE GLMVGHQPST LPPELPSGPP GLPSPPLPEE ALGTRSPGDG HNAPVEGPEG 

       250        260        270        280        290        300 
EYVELLEVTL PVRGSPTDAE GSPGLSRVRT VPTRKGAGGK GRHRRHRAWM HQKGLGPRGQ 

       310        320        330        340        350        360 
DGARPPGEGS STGASPESPP GAEAVPEAAV LEVSEPPAEA VGEASGSCPL RPGELRGGGG 

       370        380        390        400        410        420 
GGQGAEGPPG TPRRTGKGNR RKKRAAGRGA LSRGGDSAPL SPGDKEDASH QEALGNLPSP 

       430        440        450        460        470        480 
SEHKLPECHL VKEEYEGSGK PESEPKELKT AGEKEPQLSE ACGPTEEGAG ERELEGPGLL 

       490        500        510        520        530        540 
CMAGHTGPEG PLSDTPTPPL ETVQEGKGDN IPEEALAVSV SDHPDVAWDL MASGFLILTG 

       550        560        570        580        590        600 
GVDQSGRALL TITPPCPPEE PPPSRDTLNT TLHYLHSLLR PDLQTLGLSV LLDLRQAPPL 

       610        620        630        640        650        660 
PPALIPALSQ LQDSGDPPLV QRLLILIHDD LPTELCGFQG AEVLSENDLK RVAKPEELQW 

       670        680        690        700        710        720 
ELGGHRDPSP SHWVEIHQEV VRLCRLCQGV LGSVRQAIEE LEGAAEPEEE EAVGMPKPLQ 

       730        740        750        760        770        780 
KVLADPRLTA LQRDGGAILM RLRSTPSSKL EGQGPATLYQ EVDEAIHQLV RLSNLHVQQQ 

       790        800        810        820        830        840 
EQRQCLRRLQ QVLQWLSGPG EEQLASFAMP GDTLSALQET ELRFRAFSAE VQERLAQARE 

       850        860        870        880        890        900 
ALALEENATS QKVLDIFEQR LEQVESGLHR ALRLQRFFQQ AHEWVDEGFA RLAGAGPGRE 

       910        920        930        940        950        960 
AVLAALALRR APEPSAGTFQ EMRALALDLG SPAALREWGR CQARCQELER RIQQHVGEEA 

       970        980        990       1000       1010       1020 
SPRGYRRRRA DGASSGGAQW GPRSPSPSLS SLLLPSSPGP RPAPSHCSLA PCGEDYEEEG 

      1030       1040       1050       1060       1070       1080 
PELAPEAEGR PPRAVLIRGL EVTSTEVVDR TCSPREHVLL GRARGPDGPW GVGTPRMERK 

      1090       1100       1110       1120       1130       1140 
RSISAQQRLV SELIACEQDY VATLSEPVPP PGPELTPELR GTWAAALSAR ERLRSFHRTH 

      1150       1160       1170       1180       1190       1200 
FLRELQGCAT HPLRIGACFL RHGDQFSLYA QYVKHRHKLE NGLAALSPLS KGSMEAGPYL 

      1210       1220       1230       1240       1250       1260 
PRALQQPLEQ LTRYGRLLEE LLREAGPELS SECRALGAAV QLLREQEARG RDLLAVEAVR 

      1270       1280       1290       1300       1310       1320 
GCEIDLKEQG QLLHRDPFTV ICGRKKCLRH VFLFEHLLLF SKLKGPEGGS EMFVYKQAFK 

      1330       1340       1350       1360       1370       1380 
TADMGLTENI GDSGLCFELW FRRRRAREAY TLQATSPEIK LKWTSSIAQL LWRQAAHNKE 

      1390       1400       1410       1420       1430       1440 
LRVQQMVSMG IGNKPFLDIK ALGERTLSAL LTGRAARTRA SVAVSSFEHA GPSLPGLSPG 

      1450       1460       1470       1480       1490       1500 
ACSLPARVEE EAWDLDVKQI SLAPETLDSS GDVSPGPRNS PSLQPPHPGS STPTLASRGI 

      1510 
LGLSRQSHAR ALSDPTTPL 

« Hide

Isoform 2 [UniParc].

Checksum: 7DA3D9DEED3284A3
Show »

FASTA80588,758
Isoform 3 [UniParc].

Checksum: 43FB91E06285706E
Show »

FASTA1,498162,800
Isoform 4 [UniParc].

Checksum: 5FC596887113AA2C
Show »

FASTA1,471159,698

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1172-1519 (ISOFORM 4), VARIANTS LEU-956 AND SER-1189.
Tissue: Spleen and Teratocarcinoma.
[2]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed: 12508121] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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), VARIANTS SER-1189 AND PRO-1418.
Tissue: Kidney.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 841-1519 (ISOFORM 3), VARIANTS LEU-956 AND SER-1189.
Tissue: Testis.
[5]"Identification, expression analysis, genomic organization and cellular location of a novel protein with a RhoGEF domain."
Tse S.-W., Broderick J.A., Wei M.-L., Luo M.-H., Smith D., McCaffery P., Stamm S., Andreadis A.
Gene 359:63-72(2005) [PubMed: 16143467] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-931, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262 AND THR-371, MASS SPECTROMETRY.
Tissue: Embryonic kidney.
[8]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262 AND SER-961, MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
IPIIPI00018134.
IPI00790107.
IPI00878303.
IPI00878685.
PIRT46359.
RefSeqNP_060541.3. NM_018071.3.
UniGeneHs.35125.

3D structure databases

HSSPHSSP built from PDB template 1RJ2 based on UniProtKB Q63406.
ProteinModelPortalQ8TER5.
SMRQ8TER5. Positions 1077-1375.
ModBaseSearch...

Protein-protein interaction databases

IntActQ8TER5. 3 interactions.
MINTMINT-1409884.

PTM databases

PhosphoSiteQ8TER5.

Polymorphism databases

DMDM296452953.

Proteomic databases

PRIDEQ8TER5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298694; ENSP00000298694; ENSG00000165801.
GeneID55701.
KEGGhsa:55701.
UCSCuc001vzo.1. human.
uc001vzp.1. human.

Organism-specific databases

CTD55701.
GeneCardsGC14P021539.
H-InvDBHIX0001353.
HIX0011501.
HGNCHGNC:25516. ARHGEF40.
HPAHPA030746.
HPA030757.
MIM610018. gene.
neXtProtNX_Q8TER5.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00560000077135.
HOGENOMHBG282401.
HOVERGENHBG108500.
InParanoidQ8TER5.
OMARMERKRS.
OrthoDBEOG4J117G.
PhylomeDBQ8TER5.

Gene expression databases

ArrayExpressQ8TER5.
BgeeQ8TER5.
GenevestigatorQ8TER5.

Family and domain databases

InterProIPR000219. DH-domain.
IPR011993. PH_type.
IPR001849. Pleckstrin_homology.
[Graphical view]
Gene3DG3DSA:2.30.29.30. PH_type. 1 hit.
G3DSA:1.20.900.10. RhoGEF. 1 hit.
PfamPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
[Graphical view]
SUPFAMSSF48065. DH-domain. 1 hit.
PROSITEPS00741. DH_1. False negative.
PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio60542.
SOURCESearch...

Entry information

Entry nameARH40_HUMAN
AccessionPrimary (citable) accession number: Q8TER5
Secondary accession number(s): A5PL07 expand/collapse secondary AC list , Q9BWP5, Q9H7L6, Q9NTF9, Q9NW24
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: January 25, 2012
This is version 61 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families