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Q9P2F6 (RHG20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rho GTPase-activating protein 20
Alternative name(s):
Rho-type GTPase-activating protein 20
Gene names
Name:ARHGAP20
Synonyms:KIAA1391
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1191 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state By similarity.

Tissue specificity

Expressed predominantly in the brain. Lower expression is found in lymph nodes. Ref.1

Developmental stage

Low expression is found in fetal liver. Ref.1

Involvement in disease

A chromosomal aberration involving ARHGAP20 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with BRWD3 does not result in fusion transcripts but disrupts both genes.

Sequence similarities

Contains 1 PH domain.

Contains 1 Ras-associating domain.

Contains 1 Rho-GAP domain.

Caution

The translocation involving this gene was originally published as t(X;11)(q13;23) (Ref.1), but BRWD3 is localized to Xq21 and not to Xq13.

Sequence caution

The sequence AAH39340.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAH39340.1 differs from that shown. Reason: Probable cloning artifact.

The sequence BAA92629.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAF84979.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAF84979.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2F6-1)

Also known as: 1ad;

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: Q9P2F6-2)

Also known as: 1be;

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MEAMSPQQETLGGQPGRSSSLTGVSRLAGGSCTK → MTFWIIIN
Isoform 3 (identifier: Q9P2F6-3)

Also known as: 1c;

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MEAMSPQQETLGGQPGRSSSLTGVSRLAGGSCT → MSARERQPAL
Isoform 4 (identifier: Q9P2F6-4)

Also known as: 1e; 1d;

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11911191Rho GTPase-activating protein 20
PRO_0000283086

Regions

Domain78 – 180103PH
Domain194 – 295102Ras-associating
Domain365 – 551187Rho-GAP
Compositional bias934 – 97340Ser-rich

Natural variations

Alternative sequence1 – 3636Missing in isoform 4.
VSP_024296
Alternative sequence1 – 3434MEAMS…GSCTK → MTFWIIIN in isoform 2.
VSP_024294
Alternative sequence1 – 3333MEAMS…GGSCT → MSARERQPAL in isoform 3.
VSP_024295
Natural variant5221A → T.
Corresponds to variant rs7936020 [ dbSNP | Ensembl ].
VAR_031489
Natural variant6321G → D. Ref.6
Corresponds to variant rs17853925 [ dbSNP | Ensembl ].
VAR_031490

Secondary structure

............................. 1191
Helix Strand Turn

Details...

Sequences

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

Last modified April 3, 2007. Version 2.
Checksum: 1837B9DF0655AF41

FASTA1,191132,608
        10         20         30         40         50         60 
MEAMSPQQET LGGQPGRSSS LTGVSRLAGG SCTKKKMKTL AERRRSAPSL ILDKALQKRP 

        70         80         90        100        110        120 
TTRDSPSASV DTCTFLSSLV CSNRTLLIDG RAELKRGLQR QERHLFLFND LFVVAKIKYN 

       130        140        150        160        170        180 
NNFKIKNKIK LTDMWTASCV DEVGEGNTNA MKSFVLGWPT VNFVATFSSP EQKDKWLSLL 

       190        200        210        220        230        240 
QRYINLEKEK DYPKSIPLKI FAKDIGNCAY SKTITVMNSD TANEVINMSL PMLGITGSER 

       250        260        270        280        290        300 
DYQLWVNSGK EEAPYPLIGH EYPYGIKMSH LRDSALLTPG SKDSTTPFNL QEPFLMEQLP 

       310        320        330        340        350        360 
REMQCQFILK PSRLAAAQQL SDSGHKTFKR RRSIINWAFW RGSSTHLDNL PSSPTSPMPG 

       370        380        390        400        410        420 
QLFGISLPNI CENDNLPKPV LDMLFFLNQK GPLTKGIFRQ SANVKSCREL KEKLNSGVEV 

       430        440        450        460        470        480 
HLDCESIFVI ASVLKDFLRN IPGSIFSSDL YDHWVSVMDQ GNDEEKINTV QRLLDQLPRA 

       490        500        510        520        530        540 
NVVLLRYLFG VLHNIEQHSS SNQMTAFNLA VCVAPSILWP PASSSPELEN EFTKKVSLLI 

       550        560        570        580        590        600 
QFLIENCLRI FGEEITSLFR EVSVRCDTRE NASDISCFQL NDSSYDSLEN ELNEDVDAPC 

       610        620        630        640        650        660 
SDLVKKLGQG SRSMDSVLTL SDYDLDQPEV EGLLTLSDFD LAHSKDEDVQ MKRPLESKPV 

       670        680        690        700        710        720 
NILVYTKIPL RDHARAPSAM CTPSYLSTAA ANAAKSLRRH RRCSEPSIDY LDSKLSYLRE 

       730        740        750        760        770        780 
FYQKKLRKSS CDAILSQKDE DYLKQNQPLQ EEGKTCFKQS LVTGTDVSKK NATTQNTKKK 

       790        800        810        820        830        840 
SLSGSEGNHV KLFPKSKPVA ISVASYSPMS SQDHSKNQPF DVNTSGYSPP HTADALKGPR 

       850        860        870        880        890        900 
THRRCSEPNI EDQNRKLTYL RGIYSKKQHK TSCEAGLLHG EEDYLKRHKS LQMEGQKLIN 

       910        920        930        940        950        960 
QSLVMGIEVG KSSATNQNTE KVLPPRLNLC PRTSYSSLSS PGTSPSGSSV SSQDSAFSQI 

       970        980        990       1000       1010       1020 
SEHSVFTPTE TSSPIDCTFQ AQRKREDLSP DFSNASHVSG MPGPSSGQAC SRPAYTKKDT 

      1030       1040       1050       1060       1070       1080 
MEWHSQMHSV TLHPSTWLRN GVASLKNWSL KKKAKAARPE EEKIASPKGP LEPPPHASGV 

      1090       1100       1110       1120       1130       1140 
PEANSLQEEQ KDLPLRAAEG LSPVQSAQRC SSSPFQDSER HCSSPFSLVE SRLKLCMKSH 

      1150       1160       1170       1180       1190 
EEIEPGSQSS SGSLPWERAS ASSWTLEDAT SPDSGPTVVC DIEDRYLTKD I 

« Hide

Isoform 2 (1be) [UniParc].

Checksum: DFAA6B800B24583C
Show »

FASTA1,165130,235
Isoform 3 (1c) [UniParc].

Checksum: 4A148F7B05DA3586
Show »

FASTA1,168130,485
Isoform 4 (1e) (1d) [UniParc].

Checksum: EA4FF49422FE282E
Show »

FASTA1,155128,960

References

« Hide 'large scale' references
[1]"Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes."
Kalla C., Nentwich H., Schlotter M., Mertens D., Wildenberger K., Doehner H., Stilgenbauer S., Lichter P.
Genes Chromosomes Cancer 42:128-143(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, CHROMOSOMAL TRANSLOCATION WITH BRWD3.
[2]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[3]NHLBI resequencing and genotyping service (RS&G)
Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 436-1185 (ISOFORMS 1/2/3/4).
Tissue: Testis.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 436-1185 (ISOFORMS 1/2/3/4), VARIANT ASP-632.
Tissue: Testis.
[7]"Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats."
Katoh M., Katoh M.
Int. J. Oncol. 23:1471-1476(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY496263 mRNA. Translation: AAS45466.1.
AY496264 mRNA. Translation: AAS45467.1.
AY496265 mRNA. Translation: AAS45468.1.
AY496266 mRNA. Translation: AAS45469.1.
AY496267 mRNA. Translation: AAS45470.1.
AB037812 mRNA. Translation: BAA92629.1. Different initiation.
EF444953 Genomic DNA. Translation: ACA05945.1.
EF444953 Genomic DNA. Translation: ACA05946.1.
CH471065 Genomic DNA. Translation: EAW67134.1.
AK292290 mRNA. Translation: BAF84979.1. Sequence problems.
BC039340 mRNA. Translation: AAH39340.1. Sequence problems.
CCDSCCDS31673.1. [Q9P2F6-1]
CCDS58175.1. [Q9P2F6-4]
CCDS58176.1. [Q9P2F6-2]
CCDS58177.1. [Q9P2F6-3]
PIRC59436.
RefSeqNP_001245344.1. NM_001258415.1. [Q9P2F6-3]
NP_001245345.1. NM_001258416.1. [Q9P2F6-2]
NP_001245346.1. NM_001258417.1. [Q9P2F6-4]
NP_001245347.1. NM_001258418.1. [Q9P2F6-4]
NP_065860.2. NM_020809.3. [Q9P2F6-1]
XP_006718956.1. XM_006718893.1. [Q9P2F6-1]
UniGeneHs.6136.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3MSXX-ray1.65B351-551[»]
ProteinModelPortalQ9P2F6.
SMRQ9P2F6. Positions 360-551.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121622. 2 interactions.
IntActQ9P2F6. 1 interaction.

PTM databases

PhosphoSiteQ9P2F6.

Polymorphism databases

DMDM143458429.

Proteomic databases

PaxDbQ9P2F6.
PRIDEQ9P2F6.

Protocols and materials databases

DNASU57569.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260283; ENSP00000260283; ENSG00000137727. [Q9P2F6-1]
ENST00000357139; ENSP00000349660; ENSG00000137727. [Q9P2F6-2]
ENST00000524756; ENSP00000432076; ENSG00000137727. [Q9P2F6-3]
ENST00000527598; ENSP00000431399; ENSG00000137727. [Q9P2F6-4]
ENST00000528829; ENSP00000436319; ENSG00000137727. [Q9P2F6-4]
ENST00000529591; ENSP00000437905; ENSG00000137727.
ENST00000533353; ENSP00000436522; ENSG00000137727. [Q9P2F6-2]
GeneID57569.
KEGGhsa:57569.
UCSCuc001pky.2. human. [Q9P2F6-3]
uc001pkz.2. human. [Q9P2F6-1]
uc001pla.2. human. [Q9P2F6-2]

Organism-specific databases

CTD57569.
GeneCardsGC11M110447.
H-InvDBHIX0010100.
HGNCHGNC:18357. ARHGAP20.
HPAHPA038458.
MIM609568. gene.
neXtProtNX_Q9P2F6.
PharmGKBPA134963885.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271519.
HOVERGENHBG061748.
InParanoidQ9P2F6.
OMAINQSLVM.
OrthoDBEOG7NCV2Q.
PhylomeDBQ9P2F6.
TreeFamTF331062.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

BgeeQ9P2F6.
CleanExHS_ARHGAP20.
GenevestigatorQ9P2F6.

Family and domain databases

Gene3D1.10.555.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR000159. Ras-assoc.
IPR008936. Rho_GTPase_activation_prot.
IPR000198. RhoGAP_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamPF00788. RA. 1 hit.
PF00620. RhoGAP. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00324. RhoGAP. 1 hit.
[Graphical view]
SUPFAMSSF48350. SSF48350. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEPS50200. RA. 1 hit.
PS50238. RHOGAP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9P2F6.
GenomeRNAi57569.
NextBio64086.
PROQ9P2F6.
SOURCESearch...

Entry information

Entry nameRHG20_HUMAN
AccessionPrimary (citable) accession number: Q9P2F6
Secondary accession number(s): A8K8C5 expand/collapse secondary AC list , B0YIW7, B0YIW8, Q6RJU1, Q6RJU2, Q6RJU3, Q6RJU5, Q8IXS1
Entry history
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: July 9, 2014
This is version 101 of the entry and version 2 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 11

Human chromosome 11: entries, gene names and cross-references to MIM