Q9UNA1 (RHG26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Rho GTPase-activating protein 26

Alternative name(s):
GTPase regulator associated with focal adhesion kinase
Oligophrenin-1-like protein
Rho-type GTPase-activating protein 26

Gene names

Name:	ARHGAP26
Synonyms:	GRAF, KIAA0621, OPHN1L

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	814 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	GTPase-activating protein for RHOA and CDC42.
Subunit structure	Interacts with NYAP1, NYAP2 and MYO16 By similarity. Binds to the C-terminus of PTK2/FAK1.
Subcellular location	Cell junction › focal adhesion By similarity. Cytoplasm › cytoskeleton By similarity. Note: Colocalizes with actin stress fibers and cortical actin structures By similarity.
Involvement in disease	Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal translocation t(5;11)(q31;q23) with MLL has been found in leukemic cells from JMML patients, also carrying inactivating mutations on the second allele (Ref.2). Ref.2
Sequence similarities	Contains 1 PH domain. Contains 1 Rho-GAP domain. Contains 1 SH3 domain.

Ontologies

Keywords
Cellular component	Cell junction Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Disease mutation Proto-oncogene
Domain	SH3 domain
Molecular function	GTPase activation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin cytoskeleton organization Non-traceable author statement PubMed 11998687. Source: UniProtKB filopodium assembly Inferred from electronic annotation. Source: InterPro nervous system development Non-traceable author statement PubMed 9582072. Source: UniProtKB small GTPase mediated signal transduction Traceable author statement. Source: Reactome
Cellular_component	cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell cytosol Traceable author statement. Source: Reactome focal adhesion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	Rho GTPase activator activity Non-traceable author statement Ref.2. Source: UniProtKB phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PKN3	Q6P5Z2	4	EBI-1390913,EBI-1384335

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UNA1-1)

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: Q9UNA1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     700-754: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 814

814

Rho GTPase-activating protein 26

PRO_0000056718

Regions

Domain

265 – 369

105

PH

Domain

383 – 568

186

Rho-GAP

Domain

756 – 814

59

SH3

Compositional bias

584 – 701

118

Ser-rich

Natural variations

Alternative sequence

700 – 754

55

Missing in isoform 2.

VSP_001659

Natural variant

417

1

N → S in JMML; somatic mutation. Ref.2

VAR_013623

Experimental info

Sequence conflict

355

1

E → G in CAA71414. Ref.2

Sequence conflict

355

1

E → G in CAC29145. Ref.3

Sequence conflict

355

1

E → G in CAC29146. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

814

Helix Strand Turn

Details...

Beta strand

761 – 765

5

Beta strand

771 – 774

4

Beta strand

782 – 785

4

Beta strand

794 – 801

8

Beta strand

803 – 807

5

Helix

808 – 810

3

Beta strand

811 – 813

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 5C81DBDECB32B18A	FASTA	814	92,235
	10 20 30 40 50 60 MGLPALEFSD CCLDSPHFRE TLKSHEAELD KTNKFIKELI KDGKSLISAL KNLSSAKRKF 70 80 90 100 110 120 ADSLNEFKFQ CIGDAETDDE MCIARSLQEF ATVLRNLEDE RIRMIENASE VLITPLEKFR 130 140 150 160 170 180 KEQIGAAKEA KKKYDKETEK YCGILEKHLN LSSKKKESQL QEADSQVDLV RQHFYEVSLE 190 200 210 220 230 240 YVFKVQEVQE RKMFEFVEPL LAFLQGLFTF YHHGYELAKD FGDFKTQLTI SIQNTRNRFE 250 260 270 280 290 300 GTRSEVESLM KKMKENPLEH KTISPYTMEG YLYVQEKRHF GTSWVKHYCT YQRDSKQITM 310 320 330 340 350 360 VPFDQKSGGK GGEDESVILK SCTRRKTDSI EKRFCFDVEA VDRPGVITMQ ALSEEDRRLW 370 380 390 400 410 420 MEAMDGREPV YNSNKDSQSE GTAQLDSIGF SIIRKCIHAV ETRGINEQGL YRIVGVNSRV 430 440 450 460 470 480 QKLLSVLMDP KTASETETDI CAEWEIKTIT SALKTYLRML PGPLMMYQFQ RSFIKAAKLE 490 500 510 520 530 540 NQESRVSEIH SLVHRLPEKN RQMLQLLMNH LANVANNHKQ NLMTVANLGV VFGPTLLRPQ 550 560 570 580 590 600 EETVAAIMDI KFQNIVIEIL IENHEKIFNT VPDMPLTNAQ LHLSRKKSSD SKPPSCSERP 610 620 630 640 650 660 LTLFHTVQST EKQEQRNSII NSSLESVSSN PNSILNSSSS LQPNMNSSDP DLAVVKPTRP 670 680 690 700 710 720 NSLPPNPSPT SPLSPSWPMF SAPSSPMPTS STSSDSSPVR SVAGFVWFSV AAVVLSLARS 730 740 750 760 770 780 SLHAVFSLLV NFVPCHPNLH LLFDRPEEAV HEDSSTPFRK AKALYACKAE HDSELSFTAG 790 800 810 TVFDNVHPSQ EPGWLEGTLN GKTGLIPENY VEFL
	Isoform 2 [UniParc]. Checksum: 8FA48FDF1DCAFB7F	FASTA	759	86,165
	10 20 30 40 50 60 MGLPALEFSD CCLDSPHFRE TLKSHEAELD KTNKFIKELI KDGKSLISAL KNLSSAKRKF 70 80 90 100 110 120 ADSLNEFKFQ CIGDAETDDE MCIARSLQEF ATVLRNLEDE RIRMIENASE VLITPLEKFR 130 140 150 160 170 180 KEQIGAAKEA KKKYDKETEK YCGILEKHLN LSSKKKESQL QEADSQVDLV RQHFYEVSLE 190 200 210 220 230 240 YVFKVQEVQE RKMFEFVEPL LAFLQGLFTF YHHGYELAKD FGDFKTQLTI SIQNTRNRFE 250 260 270 280 290 300 GTRSEVESLM KKMKENPLEH KTISPYTMEG YLYVQEKRHF GTSWVKHYCT YQRDSKQITM 310 320 330 340 350 360 VPFDQKSGGK GGEDESVILK SCTRRKTDSI EKRFCFDVEA VDRPGVITMQ ALSEEDRRLW 370 380 390 400 410 420 MEAMDGREPV YNSNKDSQSE GTAQLDSIGF SIIRKCIHAV ETRGINEQGL YRIVGVNSRV 430 440 450 460 470 480 QKLLSVLMDP KTASETETDI CAEWEIKTIT SALKTYLRML PGPLMMYQFQ RSFIKAAKLE 490 500 510 520 530 540 NQESRVSEIH SLVHRLPEKN RQMLQLLMNH LANVANNHKQ NLMTVANLGV VFGPTLLRPQ 550 560 570 580 590 600 EETVAAIMDI KFQNIVIEIL IENHEKIFNT VPDMPLTNAQ LHLSRKKSSD SKPPSCSERP 610 620 630 640 650 660 LTLFHTVQST EKQEQRNSII NSSLESVSSN PNSILNSSSS LQPNMNSSDP DLAVVKPTRP 670 680 690 700 710 720 NSLPPNPSPT SPLSPSWPMF SAPSSPMPTS STSSDSSPVS TPFRKAKALY ACKAEHDSEL 730 740 750 SFTAGTVFDN VHPSQEPGWL EGTLNGKTGL IPENYVEFL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of human oligophrenin-1 like (OPHN1L) gene, complete CDS." Xia J.H., Tang X.X., Yu K.P., Pan Q., Dai H.P. Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart, Liver and Placenta.
[2]	"The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q." Borkhardt A., Bojesen S., Haas O.A., Fuchs U., Bartelheimer D., Loncarevic I.F., Bohle R.M., Harbott J., Repp R., Jaeger U., Viehmann S., Henn T., Korth P., Scharr D., Lampert F. Proc. Natl. Acad. Sci. U.S.A. 97:9168-9173(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), DISEASE, VARIANT LEUKEMIA SER-417.
[3]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta.
[5]	"Genomic structure of the human GRAF gene." Bojesen S.E., Link C., Borkhardt A. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 53-785.
[6]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 62-814 (ISOFORM 1). Tissue: Brain.
[7]	"Solution structure of the SH3 domain of human oligophrenin-1-like protein (KIAA0621)." RIKEN structural genomics initiative (RSGI) Submitted (DEC-2003) to the PDB data bank Cited for: STRUCTURE BY NMR OF 754-814.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Wikipedia

Graf1 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF141884 mRNA. Translation: AAD39482.1.
Y10388 Genomic DNA. Translation: CAA71414.2.
CH471062 Genomic DNA. Translation: EAW61876.1.
BC068555 mRNA. Translation: AAH68555.1.
AJ309466 , AJ309467, AJ309468, AJ309469, AJ309470, AJ309471, AJ309472, AJ309473, AJ309474, AJ309475, AJ309476, AJ309477, AJ309478, AJ309479, AJ309480, AJ309481, AJ309482, AJ309483, AJ309484, AJ309485, AJ309486, AJ309487 Genomic DNA. Translation: CAC29145.2.
AJ309466 , AJ309467, AJ309468, AJ309469, AJ309470, AJ309471, AJ309472, AJ309473, AJ309474, AJ309475, AJ309476, AJ309477, AJ309478, AJ309479, AJ309480, AJ309481, AJ309482, AJ309483, AJ309484, AJ309485, AJ309487 Genomic DNA. Translation: CAC29146.2.
AB014521 mRNA. Translation: BAA31596.1.

IPI

IPI00007913.
IPI00216360.

PIR

F59430.

RefSeq

NP_001129080.1. NM_001135608.1.
NP_055886.1. NM_015071.4.

UniGene

Hs.654668.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1UGV	NMR	-	A	756-814	[»]

ProteinModelPortal

Q9UNA1.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UNA1. 1 interaction.

MINT

MINT-203139.

STRING

9606.ENSP00000274498.

PTM databases

PhosphoSite

Q9UNA1.

Polymorphism databases

DMDM

21759332.

Proteomic databases

PaxDb

Q9UNA1.

PRIDE

Q9UNA1.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000274498; ENSP00000274498; ENSG00000145819.
ENST00000378004; ENSP00000367243; ENSG00000145819.

GeneID

23092.

KEGG

hsa:23092.

UCSC

uc003lmt.3. human.
uc011dbj.2. human.

Organism-specific databases

CTD

23092.

GeneCards

GC05P142130.

H-InvDB

HIX0005269.

HGNC

HGNC:17073. ARHGAP26.

HPA

HPA035107.

MIM

605370. gene.
607785. phenotype.

neXtProt

NX_Q9UNA1.

PharmGKB

PA134946198.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG311191.

HOGENOM

HOG000018767.

HOVERGEN

HBG067993.

InParanoid

Q9UNA1.

OMA

KDFGDFK.

OrthoDB

EOG4XGZZP.

PhylomeDB

Q9UNA1.

Enzyme and pathway databases

Reactome

REACT_111102. Signal Transduction.

Gene expression databases

ArrayExpress

Q9UNA1.

Bgee

Q9UNA1.

CleanEx

HS_ARHGAP26.

Genevestigator

Q9UNA1.

GermOnline

ENSG00000145819. Homo sapiens.

Family and domain databases

Gene3D

1.10.555.10. 1 hit.
2.30.29.30. 1 hit.

InterPro

IPR013606. IRSp53/MIM_homology_IMD.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
IPR001452. SH3_domain.
[Graphical view]

Pfam

PF08397. IMD. 1 hit.
PF00620. RhoGAP. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]

SMART

SM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]

SUPFAM

SSF48350. Rho_GAP. 1 hit.
SSF50044. SH3. 1 hit.

PROSITE

PS50003. PH_DOMAIN. 1 hit.
PS50238. RHOGAP. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

ARHGAP26. human.

EvolutionaryTrace

Q9UNA1.

GenomeRNAi

23092.

NextBio

44247.

SOURCE

Search...

Entry information

Entry name

RHG26_HUMAN

Accession

Primary (citable) accession number: Q9UNA1
Secondary accession number(s): O75117 , Q5D035, Q9BYS6, Q9BYS7, Q9UJ00

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2002
Last sequence update:	May 1, 2000
Last modified:	May 29, 2013
This is version 128 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.