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Q9UNA1

- RHG26_HUMAN

UniProt

Q9UNA1 - RHG26_HUMAN

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Protein
Rho GTPase-activating protein 26
Gene
ARHGAP26, GRAF, KIAA0621, OPHN1L
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GTPase-activating protein for RHOA and CDC42.

GO - Molecular functioni

  1. Rho GTPase activator activity Source: UniProtKB
  2. phospholipid binding Source: FlyBase
  3. protein binding Source: IntAct

GO - Biological processi

  1. actin cytoskeleton organization Source: UniProtKB
  2. filopodium assembly Source: InterPro
  3. nervous system development Source: UniProtKB
  4. positive regulation of Rho GTPase activity Source: GOC
  5. regulation of small GTPase mediated signal transduction Source: Reactome
  6. small GTPase mediated signal transduction Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

ReactomeiREACT_11051. Rho GTPase cycle.

Names & Taxonomyi

Protein namesi
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 namesi
Synonyms:GRAF, KIAA0621, OPHN1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:17073. ARHGAP26.

Subcellular locationi

Cell junctionfocal adhesion By similarity. Cytoplasmcytoskeleton By similarity
Note: Colocalizes with actin stress fibers and cortical actin structures By similarity.

GO - Cellular componenti

  1. cytoskeleton Source: UniProtKB-SubCell
  2. cytosol Source: Reactome
  3. focal adhesion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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 (1 Publication).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti417 – 4171N → S in JMML; somatic mutation. 1 Publication
VAR_013623

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

MIMi607785. phenotype.
PharmGKBiPA134946198.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 814814Rho GTPase-activating protein 26
PRO_0000056718Add
BLAST

Proteomic databases

MaxQBiQ9UNA1.
PaxDbiQ9UNA1.
PRIDEiQ9UNA1.

PTM databases

PhosphoSiteiQ9UNA1.

Expressioni

Gene expression databases

ArrayExpressiQ9UNA1.
BgeeiQ9UNA1.
CleanExiHS_ARHGAP26.
GenevestigatoriQ9UNA1.

Organism-specific databases

HPAiHPA035106.
HPA035107.

Interactioni

Subunit structurei

Interacts with NYAP1, NYAP2 and MYO16 By similarity. Binds to the C-terminus of PTK2/FAK1.

Binary interactionsi

WithEntry#Exp.IntActNotes
PKN3Q6P5Z24EBI-1390913,EBI-1384335

Protein-protein interaction databases

BioGridi116720. 7 interactions.
IntActiQ9UNA1. 6 interactions.
MINTiMINT-203139.
STRINGi9606.ENSP00000274498.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi761 – 7655
Beta strandi771 – 7744
Beta strandi782 – 7854
Beta strandi794 – 8018
Beta strandi803 – 8075
Helixi808 – 8103
Beta strandi811 – 8133

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1UGVNMR-A756-814[»]
ProteinModelPortaliQ9UNA1.
SMRiQ9UNA1. Positions 383-573, 754-814.

Miscellaneous databases

EvolutionaryTraceiQ9UNA1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini265 – 369105PH
Add
BLAST
Domaini383 – 568186Rho-GAP
Add
BLAST
Domaini756 – 81459SH3
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi584 – 701118Ser-rich
Add
BLAST

Sequence similaritiesi

Contains 1 PH domain.
Contains 1 Rho-GAP domain.
Contains 1 SH3 domain.

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiNOG311191.
HOGENOMiHOG000018767.
HOVERGENiHBG067993.
InParanoidiQ9UNA1.
OMAiKDFGDFK.
OrthoDBiEOG71VSS5.
PhylomeDBiQ9UNA1.
TreeFamiTF316851.

Family and domain databases

Gene3Di1.10.555.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR013606. IRSp53/MIM_homology_IMD.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF08397. IMD. 1 hit.
PF00620. RhoGAP. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
SSF50044. SSF50044. 2 hits.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
PS50238. RHOGAP. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UNA1-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MGLPALEFSD CCLDSPHFRE TLKSHEAELD KTNKFIKELI KDGKSLISAL    50
KNLSSAKRKF ADSLNEFKFQ CIGDAETDDE MCIARSLQEF ATVLRNLEDE 100
RIRMIENASE VLITPLEKFR KEQIGAAKEA KKKYDKETEK YCGILEKHLN 150
LSSKKKESQL QEADSQVDLV RQHFYEVSLE YVFKVQEVQE RKMFEFVEPL 200
LAFLQGLFTF YHHGYELAKD FGDFKTQLTI SIQNTRNRFE GTRSEVESLM 250
KKMKENPLEH KTISPYTMEG YLYVQEKRHF GTSWVKHYCT YQRDSKQITM 300
VPFDQKSGGK GGEDESVILK SCTRRKTDSI EKRFCFDVEA VDRPGVITMQ 350
ALSEEDRRLW MEAMDGREPV YNSNKDSQSE GTAQLDSIGF SIIRKCIHAV 400
ETRGINEQGL YRIVGVNSRV QKLLSVLMDP KTASETETDI CAEWEIKTIT 450
SALKTYLRML PGPLMMYQFQ RSFIKAAKLE NQESRVSEIH SLVHRLPEKN 500
RQMLQLLMNH LANVANNHKQ NLMTVANLGV VFGPTLLRPQ EETVAAIMDI 550
KFQNIVIEIL IENHEKIFNT VPDMPLTNAQ LHLSRKKSSD SKPPSCSERP 600
LTLFHTVQST EKQEQRNSII NSSLESVSSN PNSILNSSSS LQPNMNSSDP 650
DLAVVKPTRP NSLPPNPSPT SPLSPSWPMF SAPSSPMPTS STSSDSSPVR 700
SVAGFVWFSV AAVVLSLARS SLHAVFSLLV NFVPCHPNLH LLFDRPEEAV 750
HEDSSTPFRK AKALYACKAE HDSELSFTAG TVFDNVHPSQ EPGWLEGTLN 800
GKTGLIPENY VEFL 814
Length:814
Mass (Da):92,235
Last modified:May 1, 2000 - v1
Checksum:i5C81DBDECB32B18A
GO
Isoform 2 (identifier: Q9UNA1-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:759
Mass (Da):86,165
Checksum:i8FA48FDF1DCAFB7F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti417 – 4171N → S in JMML; somatic mutation. 1 Publication
VAR_013623

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei700 – 75455Missing in isoform 2.
VSP_001659Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti355 – 3551E → G in CAA71414. 1 Publication
Sequence conflicti355 – 3551E → G in CAC29145. 1 Publication
Sequence conflicti355 – 3551E → G in CAC29146. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS4277.1. [Q9UNA1-1]
CCDS47297.1. [Q9UNA1-2]
PIRiF59430.
RefSeqiNP_001129080.1. NM_001135608.1. [Q9UNA1-2]
NP_055886.1. NM_015071.4. [Q9UNA1-1]
UniGeneiHs.654668.

Genome annotation databases

EnsembliENST00000274498; ENSP00000274498; ENSG00000145819. [Q9UNA1-1]
ENST00000378004; ENSP00000367243; ENSG00000145819. [Q9UNA1-2]
GeneIDi23092.
KEGGihsa:23092.
UCSCiuc003lmt.3. human. [Q9UNA1-2]
uc011dbj.2. human. [Q9UNA1-1]

Polymorphism databases

DMDMi21759332.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

Graf1 entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS4277.1. [Q9UNA1-1 ]
CCDS47297.1. [Q9UNA1-2 ]
PIRi F59430.
RefSeqi NP_001129080.1. NM_001135608.1. [Q9UNA1-2 ]
NP_055886.1. NM_015071.4. [Q9UNA1-1 ]
UniGenei Hs.654668.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1UGV NMR - A 756-814 [» ]
ProteinModelPortali Q9UNA1.
SMRi Q9UNA1. Positions 383-573, 754-814.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116720. 7 interactions.
IntActi Q9UNA1. 6 interactions.
MINTi MINT-203139.
STRINGi 9606.ENSP00000274498.

PTM databases

PhosphoSitei Q9UNA1.

Polymorphism databases

DMDMi 21759332.

Proteomic databases

MaxQBi Q9UNA1.
PaxDbi Q9UNA1.
PRIDEi Q9UNA1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000274498 ; ENSP00000274498 ; ENSG00000145819 . [Q9UNA1-1 ]
ENST00000378004 ; ENSP00000367243 ; ENSG00000145819 . [Q9UNA1-2 ]
GeneIDi 23092.
KEGGi hsa:23092.
UCSCi uc003lmt.3. human. [Q9UNA1-2 ]
uc011dbj.2. human. [Q9UNA1-1 ]

Organism-specific databases

CTDi 23092.
GeneCardsi GC05P142130.
H-InvDB HIX0005269.
HGNCi HGNC:17073. ARHGAP26.
HPAi HPA035106.
HPA035107.
MIMi 605370. gene.
607785. phenotype.
neXtProti NX_Q9UNA1.
PharmGKBi PA134946198.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG311191.
HOGENOMi HOG000018767.
HOVERGENi HBG067993.
InParanoidi Q9UNA1.
OMAi KDFGDFK.
OrthoDBi EOG71VSS5.
PhylomeDBi Q9UNA1.
TreeFami TF316851.

Enzyme and pathway databases

Reactomei REACT_11051. Rho GTPase cycle.

Miscellaneous databases

ChiTaRSi ARHGAP26. human.
EvolutionaryTracei Q9UNA1.
GeneWikii ARHGAP26.
GenomeRNAii 23092.
NextBioi 44247.
PROi Q9UNA1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UNA1.
Bgeei Q9UNA1.
CleanExi HS_ARHGAP26.
Genevestigatori Q9UNA1.

Family and domain databases

Gene3Di 1.10.555.10. 1 hit.
2.30.29.30. 1 hit.
InterProi IPR013606. IRSp53/MIM_homology_IMD.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
IPR001452. SH3_domain.
[Graphical view ]
Pfami PF08397. IMD. 1 hit.
PF00620. RhoGAP. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view ]
SMARTi SM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF48350. SSF48350. 1 hit.
SSF50044. SSF50044. 2 hits.
PROSITEi PS50003. PH_DOMAIN. 1 hit.
PS50238. RHOGAP. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiRHG26_HUMAN
AccessioniPrimary (citable) accession number: Q9UNA1
Secondary accession number(s): O75117
, Q5D035, Q9BYS6, Q9BYS7, Q9UJ00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 141 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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