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Q9UNA1 (RHG26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length814 AA.
Sequence statusComplete.
Protein existenceEvidence 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 junctionfocal adhesion By similarity. Cytoplasmcytoskeleton 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 KMT2A/MLL1 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PKN3Q6P5Z24EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 814814Rho GTPase-activating protein 26
PRO_0000056718

Regions

Domain265 – 369105PH
Domain383 – 568186Rho-GAP
Domain756 – 81459SH3
Compositional bias584 – 701118Ser-rich

Natural variations

Alternative sequence700 – 75455Missing in isoform 2.
VSP_001659
Natural variant4171N → S in JMML; somatic mutation. Ref.2
VAR_013623

Experimental info

Sequence conflict3551E → G in CAA71414. Ref.2
Sequence conflict3551E → G in CAC29145. Ref.3
Sequence conflict3551E → G in CAC29146. Ref.3

Secondary structure

............. 814
Helix Strand Turn

Details...

Sequences

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

Last modified May 1, 2000. Version 1.
Checksum: 5C81DBDECB32B18A

FASTA81492,235
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 8FA48FDF1DCAFB7F
Show »

FASTA75986,165

References

« Hide '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. expand/collapse author list , 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.

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 expand/collapse EMBL AC list , 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 expand/collapse EMBL AC list , 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.
PIRF59430.
RefSeqNP_001129080.1. NM_001135608.1.
NP_055886.1. NM_015071.4.
UniGeneHs.654668.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1UGVNMR-A756-814[»]
ProteinModelPortalQ9UNA1.
SMRQ9UNA1. Positions 17-227, 265-365, 383-573, 754-814.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116720. 7 interactions.
IntActQ9UNA1. 6 interactions.
MINTMINT-203139.
STRING9606.ENSP00000274498.

PTM databases

PhosphoSiteQ9UNA1.

Polymorphism databases

DMDM21759332.

Proteomic databases

PaxDbQ9UNA1.
PRIDEQ9UNA1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000274498; ENSP00000274498; ENSG00000145819. [Q9UNA1-1]
ENST00000378004; ENSP00000367243; ENSG00000145819. [Q9UNA1-2]
GeneID23092.
KEGGhsa:23092.
UCSCuc003lmt.3. human. [Q9UNA1-2]
uc011dbj.2. human. [Q9UNA1-1]

Organism-specific databases

CTD23092.
GeneCardsGC05P142130.
H-InvDBHIX0005269.
HGNCHGNC:17073. ARHGAP26.
HPAHPA035106.
HPA035107.
MIM605370. gene.
607785. phenotype.
neXtProtNX_Q9UNA1.
PharmGKBPA134946198.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG311191.
HOGENOMHOG000018767.
HOVERGENHBG067993.
InParanoidQ9UNA1.
OMAKDFGDFK.
OrthoDBEOG71VSS5.
PhylomeDBQ9UNA1.
TreeFamTF316851.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ9UNA1.
BgeeQ9UNA1.
CleanExHS_ARHGAP26.
GenevestigatorQ9UNA1.

Family and domain databases

Gene3D1.10.555.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR013606. IRSp53/MIM_homology_IMD.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamPF08397. IMD. 1 hit.
PF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF48350. SSF48350. 1 hit.
SSF50044. SSF50044. 2 hits.
PROSITEPS50003. PH_DOMAIN. 1 hit.
PS50238. RHOGAP. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSARHGAP26. human.
EvolutionaryTraceQ9UNA1.
GeneWikiARHGAP26.
GenomeRNAi23092.
NextBio44247.
PROQ9UNA1.
SOURCESearch...

Entry information

Entry nameRHG26_HUMAN
AccessionPrimary (citable) accession number: Q9UNA1
Secondary accession number(s): O75117 expand/collapse secondary AC list , Q5D035, Q9BYS6, Q9BYS7, Q9UJ00
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 137 of the entry and version 1 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

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM