Reviewed, UniProtKB/Swiss-Prot Q14155 (ARHG7_HUMAN)

Names and origin

Protein names

Recommended name:
    Rho guanine nucleotide exchange factor 7
Alternative name(s):
    PAK-interacting exchange factor beta
    Beta-Pix
    COOL-1
    p85

Gene names

Name:	ARHGEF7
Synonyms:	COOL1, KIAA0142, P85SPR, PAK3BP, PIXB
ORF Names:	Nbla10314

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

General annotation (Comments)

Function	Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling By similarity.
Subunit structure	Interacts with PAK kinases through the SH3 domain. Interacts with GIT1 and TGFB1I1. Interacts with ITCH By similarity. Interacts with unphosphorylated PAK1.
Sequence similarities	Contains 1 CH (calponin-homology) domain. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Domain	SH3 domain
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	regulation of Rho protein signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	cytosol Inferred from Experiment. Source: Reactome nucleolus Inferred from direct assay. Source: HPA
Molecular function	Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 4 (identifier: Q14155-4)

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 1 (identifier: Q14155-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.
     733-803: TWQGTDLMHN...SCCSYISHQN → SSRKESAPQV...NDPAWDETNL

Isoform 2 (identifier: Q14155-2)

The sequence of this isoform differs from the canonical sequence as follows:
     56-105: Missing.

Isoform 3 (identifier: Q14155-3)

The sequence of this isoform differs from the canonical sequence as follows:
     85-105: Missing.

Isoform 5 (identifier: Q14155-5)

The sequence of this isoform differs from the canonical sequence as follows:
     85-177: Missing.
     733-803: TWQGTDLMHN...SCCSYISHQN → SSRKESAPQV...NDPAWDETNL

Isoform 6 (identifier: Q14155-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 803

803

Rho guanine nucleotide exchange factor 7

PRO_0000080921

Regions

Domain

1 – 132

132

CH

Domain

184 – 243

60

SH3

Domain

271 – 451

181

DH

Domain

473 – 578

106

PH

Amino acid modifications

Modified residue

176

1

Phosphoserine By similarity

Modified residue

249

1

Phosphoserine

Modified residue

518

1

Phosphoserine

Modified residue

694

1

Phosphoserine

Natural variations

Alternative sequence

1 – 178

178

Missing in isoform 1 and isoform 6.

VSP_011032

Alternative sequence

56 – 105

50

Missing in isoform 2.

VSP_011033

Alternative sequence

85 – 177

93

Missing in isoform 5.

VSP_034639

Alternative sequence

85 – 105

21

Missing in isoform 3.

VSP_011034

Alternative sequence

733 – 803

71

TWQGT…ISHQN → SSRKESAPQVLLPEEEKIIV EETKSNGQTVIEEKSLVDTV YALKDEVQELRQDNKKMKKS LEEEQRARKDLEKLVRKVLK NMNDPAWDETNL in isoform 1 and isoform 5.

VSP_011035

Experimental info

Sequence conflict

52 – 55

4

TIEK → EEKR in BAD66827. Ref.7

Sequence conflict

343

1

Q → K in AAH33905. Ref.6

Sequence conflict

552

1

M → V in AAH33905. Ref.6

Sequence conflict

595

1

H → D in BAD66827. Ref.7

Sequence conflict

636

1

I → T in AAH50521. Ref.6

Sequence conflict

740

1

M → L in AAH33905. Ref.6

Secondary structure

1

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803

Helix Strand Turn

Details...

Beta strand

188 – 191

4

Beta strand

210 – 215

6

Beta strand

218 – 226

9

Beta strand

229 – 240

12

Helix

271 – 301

31

Turn

302 – 304

3

Beta strand

305 – 310

6

Helix

311 – 313

3

Helix

316 – 338

23

Helix

346 – 378

33

Turn

379 – 381

3

Helix

382 – 385

4

Turn

386 – 389

4

Turn

395 – 397

3

Helix

398 – 402

5

Turn

406 – 408

3

Helix

409 – 411

3

Helix

413 – 422

10

Beta strand

428 – 430

3

Helix

432 – 453

22

Turn

454 – 456

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 4 [UniParc]. Last modified July 19, 2004. Version 2. Checksum: 613EBA839E6FDBFD	FASTA	803	90,012
	10 20 30 40 50 60 MNSAEQTVTW LITLGVLESP KKTISDPEGF LQASLKDGVV LCRLLERLLP GTIEKVYPEP 70 80 90 100 110 120 RSESECLSNI REFLRGCGAS LRLELLFPPS QPPQHLVTTI LLSASTFDAN DLYQGQNFNK 130 140 150 160 170 180 VLSSLVTLNK VTADIGLGSD SVCARPSSHR IKSFDSLGSQ SLHTRTSKLF QGQYRSLDMT 190 200 210 220 230 240 DNSNNQLVVR AKFNFQQTNE DELSFSKGDV IHVTRVEEGG WWEGTLNGRT GWFPSNYVRE 250 260 270 280 290 300 VKASEKPVSP KSGTLKSPPK GFDTTAINKS YYNVVLQNIL ETENEYSKEL QTVLSTYLRP 310 320 330 340 350 360 LQTSEKLSSA NISYLMGNLE EICSFQQMLV QSLEECTKLP EAQQRVGGCF LNLMPQMKTL 370 380 390 400 410 420 YLTYCANHPS AVNVLTEHSE ELGEFMETKG ASSPGILVLT TGLSKPFMRL DKYPTLLKEL 430 440 450 460 470 480 ERHMEDYHTD RQDIQKSMAA FKNLSAQCQE VRKRKELELQ ILTEAIRNWE GDDIKTLGNV 490 500 510 520 530 540 TYMSQVLIQC AGSEEKNERY LLLFPNVLLM LSASPRMSGF IYQGKLPTTG MTITKLEDSE 550 560 570 580 590 600 NHRNAFEISG SMIERILVSC NNQQDLQEWV EHLQKQTKVT SVGNPTIKPH SVPSHTLPSH 610 620 630 640 650 660 PVTPSSKHAD SKPAPLTPAY HTLPHPSHHG TPHTTINWGP LEPPKTPKPW SLSCLRPAPP 670 680 690 700 710 720 LRPSAALCYK EDLSKSPKTM KKLLPKRKPE RKPSDEEFAS RKSTAALEED AQILKVIEAY 730 740 750 760 770 780 CTSAKTRQTL NSTWQGTDLM HNHVLADDDQ PSLDSLGRRS SLSRLEPSDL SEDSDYDSIW 790 800 TAHSYRMGST SRKSCCSYIS HQN
	Isoform 1 [UniParc]. Checksum: B5B5A83F0EBC28D2		646	73,140
	10 20 30 40 50 60 MTDNSNNQLV VRAKFNFQQT NEDELSFSKG DVIHVTRVEE GGWWEGTLNG RTGWFPSNYV 70 80 90 100 110 120 REVKASEKPV SPKSGTLKSP PKGFDTTAIN KSYYNVVLQN ILETENEYSK ELQTVLSTYL 130 140 150 160 170 180 RPLQTSEKLS SANISYLMGN LEEICSFQQM LVQSLEECTK LPEAQQRVGG CFLNLMPQMK 190 200 210 220 230 240 TLYLTYCANH PSAVNVLTEH SEELGEFMET KGASSPGILV LTTGLSKPFM RLDKYPTLLK 250 260 270 280 290 300 ELERHMEDYH TDRQDIQKSM AAFKNLSAQC QEVRKRKELE LQILTEAIRN WEGDDIKTLG 310 320 330 340 350 360 NVTYMSQVLI QCAGSEEKNE RYLLLFPNVL LMLSASPRMS GFIYQGKLPT TGMTITKLED 370 380 390 400 410 420 SENHRNAFEI SGSMIERILV SCNNQQDLQE WVEHLQKQTK VTSVGNPTIK PHSVPSHTLP 430 440 450 460 470 480 SHPVTPSSKH ADSKPAPLTP AYHTLPHPSH HGTPHTTINW GPLEPPKTPK PWSLSCLRPA 490 500 510 520 530 540 PPLRPSAALC YKEDLSKSPK TMKKLLPKRK PERKPSDEEF ASRKSTAALE EDAQILKVIE 550 560 570 580 590 600 AYCTSAKTRQ TLNSSSRKES APQVLLPEEE KIIVEETKSN GQTVIEEKSL VDTVYALKDE 610 620 630 640 VQELRQDNKK MKKSLEEEQR ARKDLEKLVR KVLKNMNDPA WDETNL
	Isoform 2 [UniParc]. Checksum: 04178E64ACF43846		753	84,477
	10 20 30 40 50 60 MNSAEQTVTW LITLGVLESP KKTISDPEGF LQASLKDGVV LCRLLERLLP GTIEKTFDAN 70 80 90 100 110 120 DLYQGQNFNK VLSSLVTLNK VTADIGLGSD SVCARPSSHR IKSFDSLGSQ SLHTRTSKLF 130 140 150 160 170 180 QGQYRSLDMT DNSNNQLVVR AKFNFQQTNE DELSFSKGDV IHVTRVEEGG WWEGTLNGRT 190 200 210 220 230 240 GWFPSNYVRE VKASEKPVSP KSGTLKSPPK GFDTTAINKS YYNVVLQNIL ETENEYSKEL 250 260 270 280 290 300 QTVLSTYLRP LQTSEKLSSA NISYLMGNLE EICSFQQMLV QSLEECTKLP EAQQRVGGCF 310 320 330 340 350 360 LNLMPQMKTL YLTYCANHPS AVNVLTEHSE ELGEFMETKG ASSPGILVLT TGLSKPFMRL 370 380 390 400 410 420 DKYPTLLKEL ERHMEDYHTD RQDIQKSMAA FKNLSAQCQE VRKRKELELQ ILTEAIRNWE 430 440 450 460 470 480 GDDIKTLGNV TYMSQVLIQC AGSEEKNERY LLLFPNVLLM LSASPRMSGF IYQGKLPTTG 490 500 510 520 530 540 MTITKLEDSE NHRNAFEISG SMIERILVSC NNQQDLQEWV EHLQKQTKVT SVGNPTIKPH 550 560 570 580 590 600 SVPSHTLPSH PVTPSSKHAD SKPAPLTPAY HTLPHPSHHG TPHTTINWGP LEPPKTPKPW 610 620 630 640 650 660 SLSCLRPAPP LRPSAALCYK EDLSKSPKTM KKLLPKRKPE RKPSDEEFAS RKSTAALEED 670 680 690 700 710 720 AQILKVIEAY CTSAKTRQTL NSTWQGTDLM HNHVLADDDQ PSLDSLGRRS SLSRLEPSDL 730 740 750 SEDSDYDSIW TAHSYRMGST SRKSCCSYIS HQN
	Isoform 3 [UniParc]. Checksum: 9C602026D90A6D01		782	87,770
	10 20 30 40 50 60 MNSAEQTVTW LITLGVLESP KKTISDPEGF LQASLKDGVV LCRLLERLLP GTIEKVYPEP 70 80 90 100 110 120 RSESECLSNI REFLRGCGAS LRLETFDAND LYQGQNFNKV LSSLVTLNKV TADIGLGSDS 130 140 150 160 170 180 VCARPSSHRI KSFDSLGSQS LHTRTSKLFQ GQYRSLDMTD NSNNQLVVRA KFNFQQTNED 190 200 210 220 230 240 ELSFSKGDVI HVTRVEEGGW WEGTLNGRTG WFPSNYVREV KASEKPVSPK SGTLKSPPKG 250 260 270 280 290 300 FDTTAINKSY YNVVLQNILE TENEYSKELQ TVLSTYLRPL QTSEKLSSAN ISYLMGNLEE 310 320 330 340 350 360 ICSFQQMLVQ SLEECTKLPE AQQRVGGCFL NLMPQMKTLY LTYCANHPSA VNVLTEHSEE 370 380 390 400 410 420 LGEFMETKGA SSPGILVLTT GLSKPFMRLD KYPTLLKELE RHMEDYHTDR QDIQKSMAAF 430 440 450 460 470 480 KNLSAQCQEV RKRKELELQI LTEAIRNWEG DDIKTLGNVT YMSQVLIQCA GSEEKNERYL 490 500 510 520 530 540 LLFPNVLLML SASPRMSGFI YQGKLPTTGM TITKLEDSEN HRNAFEISGS MIERILVSCN 550 560 570 580 590 600 NQQDLQEWVE HLQKQTKVTS VGNPTIKPHS VPSHTLPSHP VTPSSKHADS KPAPLTPAYH 610 620 630 640 650 660 TLPHPSHHGT PHTTINWGPL EPPKTPKPWS LSCLRPAPPL RPSAALCYKE DLSKSPKTMK 670 680 690 700 710 720 KLLPKRKPER KPSDEEFASR KSTAALEEDA QILKVIEAYC TSAKTRQTLN STWQGTDLMH 730 740 750 760 770 780 NHVLADDDQP SLDSLGRRSS LSRLEPSDLS EDSDYDSIWT AHSYRMGSTS RKSCCSYISH QN
	Isoform 5 [UniParc]. Checksum: E82D55E6187DADB2		731	82,571
	10 20 30 40 50 60 MNSAEQTVTW LITLGVLESP KKTISDPEGF LQASLKDGVV LCRLLERLLP GTIEKVYPEP 70 80 90 100 110 120 RSESECLSNI REFLRGCGAS LRLEDMTDNS NNQLVVRAKF NFQQTNEDEL SFSKGDVIHV 130 140 150 160 170 180 TRVEEGGWWE GTLNGRTGWF PSNYVREVKA SEKPVSPKSG TLKSPPKGFD TTAINKSYYN 190 200 210 220 230 240 VVLQNILETE NEYSKELQTV LSTYLRPLQT SEKLSSANIS YLMGNLEEIC SFQQMLVQSL 250 260 270 280 290 300 EECTKLPEAQ QRVGGCFLNL MPQMKTLYLT YCANHPSAVN VLTEHSEELG EFMETKGASS 310 320 330 340 350 360 PGILVLTTGL SKPFMRLDKY PTLLKELERH MEDYHTDRQD IQKSMAAFKN LSAQCQEVRK 370 380 390 400 410 420 RKELELQILT EAIRNWEGDD IKTLGNVTYM SQVLIQCAGS EEKNERYLLL FPNVLLMLSA 430 440 450 460 470 480 SPRMSGFIYQ GKLPTTGMTI TKLEDSENHR NAFEISGSMI ERILVSCNNQ QDLQEWVEHL 490 500 510 520 530 540 QKQTKVTSVG NPTIKPHSVP SHTLPSHPVT PSSKHADSKP APLTPAYHTL PHPSHHGTPH 550 560 570 580 590 600 TTINWGPLEP PKTPKPWSLS CLRPAPPLRP SAALCYKEDL SKSPKTMKKL LPKRKPERKP 610 620 630 640 650 660 SDEEFASRKS TAALEEDAQI LKVIEAYCTS AKTRQTLNSS SRKESAPQVL LPEEEKIIVE 670 680 690 700 710 720 ETKSNGQTVI EEKSLVDTVY ALKDEVQELR QDNKKMKKSL EEEQRARKDL EKLVRKVLKN 730 MNDPAWDETN L
	Isoform 6 [UniParc]. Checksum: 25DAD75DD4B0AC2E		625	70,450
	10 20 30 40 50 60 MTDNSNNQLV VRAKFNFQQT NEDELSFSKG DVIHVTRVEE GGWWEGTLNG RTGWFPSNYV 70 80 90 100 110 120 REVKASEKPV SPKSGTLKSP PKGFDTTAIN KSYYNVVLQN ILETENEYSK ELQTVLSTYL 130 140 150 160 170 180 RPLQTSEKLS SANISYLMGN LEEICSFQQM LVQSLEECTK LPEAQQRVGG CFLNLMPQMK 190 200 210 220 230 240 TLYLTYCANH PSAVNVLTEH SEELGEFMET KGASSPGILV LTTGLSKPFM RLDKYPTLLK 250 260 270 280 290 300 ELERHMEDYH TDRQDIQKSM AAFKNLSAQC QEVRKRKELE LQILTEAIRN WEGDDIKTLG 310 320 330 340 350 360 NVTYMSQVLI QCAGSEEKNE RYLLLFPNVL LMLSASPRMS GFIYQGKLPT TGMTITKLED 370 380 390 400 410 420 SENHRNAFEI SGSMIERILV SCNNQQDLQE WVEHLQKQTK VTSVGNPTIK PHSVPSHTLP 430 440 450 460 470 480 SHPVTPSSKH ADSKPAPLTP AYHTLPHPSH HGTPHTTINW GPLEPPKTPK PWSLSCLRPA 490 500 510 520 530 540 PPLRPSAALC YKEDLSKSPK TMKKLLPKRK PERKPSDEEF ASRKSTAALE EDAQILKVIE 550 560 570 580 590 600 AYCTSAKTRQ TLNSTWQGTD LMHNHVLADD DQPSLDSLGR RSSLSRLEPS DLSEDSDYDS 610 620 IWTAHSYRMG STSRKSCCSY ISHQN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Tanaka A., Ishikawa K., Nomura N. DNA Res. 2:167-174(1995) [PubMed: 8590280] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Bone marrow.
[2]	"A novel regulator of p21-activated kinases." Bagrodia S., Taylor S.J., Jordon K.A., Van Aelst L., Cerione R.A. J. Biol. Chem. 273:23633-23636(1998) [PubMed: 9726964] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	The German cDNA consortium Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Amygdala.
[4]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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] (ISOFORMS 1; 2 AND 4). Tissue: Brain and Testis.
[7]	"Alternative splice variants encoding unstable protein domains exist in the human brain." Homma K., Kikuno R.F., Nagase T., Ohara O., Nishikawa K. J. Mol. Biol. 343:1207-1220(2004) [PubMed: 15491607] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 52-803 (ISOFORM 5).
[8]	"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma." Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K.,