Q5TG30 (RHG40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Rho GTPase-activating protein 40

Alternative name(s):
Rho-type GTPase-activating protein 40

Gene names

Name:	ARHGAP40
Synonyms:	C20orf95

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	622 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state By similarity.
Sequence similarities	Contains 1 Rho-GAP domain.
Sequence caution	The sequence CAI19168.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Molecular function	GTPase activation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of GTPase activity Inferred from electronic annotation. Source: GOC regulation of small GTPase mediated signal transduction Traceable author statement. Source: Reactome small GTPase mediated signal transduction Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 622	622	Rho GTPase-activating protein 40		PRO_0000331532
Regions
	Domain	270 – 469	200	Rho-GAP
Natural variations
	Natural variant	133	1	G → R. Corresponds to variant rs6100455 [ dbSNP | Ensembl ].		VAR_042892
	Natural variant	413	1	R → L. Corresponds to variant rs6070872 [ dbSNP | Ensembl ].		VAR_042893
	Natural variant	463	1	H → N. Corresponds to variant rs16987460 [ dbSNP | Ensembl ].		VAR_042894

Sequences

	Sequence		Length	Mass (Da)
	Q5TG30 [UniParc]. Last modified April 29, 2008. Version 3. Checksum: 4F2E42DDF1A64267	FASTA	622	68,908
	10 20 30 40 50 60 MDQLPQKNLL RLHPAGSAGC STGVESSSMD GFWMEVEQIQ QRDELREEDS GGNEGQLPEE 70 80 90 100 110 120 GEAESQWLQD TGLSGLLGGL GLDGDHQELL STLTQTQVAA VCRRLDIYAR SVRRQHKTPV 130 140 150 160 170 180 RDVRDVFGVF NSGKMSSENG DSGMKGAQLS SGASKFPPAA EPGGLQEQAG REEAFNMDSA 190 200 210 220 230 240 YSEQAAVLLQ RSRPSRGGTS AWGKCSLPKF TVPKGRLGVT RIGDLSLQDM RKVPSLALIE 250 260 270 280 290 300 LTALCDILGL DLKRSKAGKW KAAETRLFGV PLDSLLEADH KVLPSTQVPL VLQALLSCLE 310 320 330 340 350 360 KRGLDMEGIL RVPGSQARVK GLEQKLERDF YAGLFSWDEV HHNDASDLLK RFIRKLPTPL 370 380 390 400 410 420 LTAEYLPAFA VVPNIPNLKQ RLQVLHLLIL ILPEPNRNAL KALLEFLRKV VAREQHNKMT 430 440 450 460 470 480 LRNVSTVMAP NLFLHQGRPP KLPKGKEKQL AEGAAEVVQI MVHYQDLLWT VASFLVAQVR 490 500 510 520 530 540 KLNDSSSRRP QLCDAGLKTW LRRMHADRDK AGDGLEATPK VAKIQVVWPI KDPLKVPLTP 550 560 570 580 590 600 STKVAHVLRQ FTEHLSPGSK GQEDSEDMDS LLLHHRSMES ANILLYEVGG NINEHRLDPD 610 620 AYLLDLYRAN PHGEWVLKQN PT

References

[1]

"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL035419 Genomic DNA. Translation: CAI19168.2. Sequence problems.
IPI	IPI00943885.
UniGene	Hs.451997.
3D structure databases
HSSP	HSSP built from PDB template 1RGP based on UniProtKB Q07960.
ProteinModelPortal	Q5TG30.
ModBase	Search...
PTM databases
PhosphoSite	Q5TG30.
Polymorphism databases
DMDM	187611445.
Proteomic databases
PaxDb	Q5TG30.
PRIDE	Q5TG30.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000373345; ENSP00000362442; ENSG00000124143.
UCSC	uc021wdn.1. human.
Organism-specific databases
GeneCards	GC20P037252.
HGNC	HGNC:16226. ARHGAP40.
HPA	HPA042636. HPA042840.
neXtProt	NX_Q5TG30.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG329973.
HOGENOM	HOG000015106.
HOVERGEN	HBG072023.
InParanoid	Q5TG30.
OMA	DVFGVFN.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	Q5TG30.
Bgee	Q5TG30.
CleanEx	HS_C20orf95.
Genevestigator	Q5TG30.
Family and domain databases
Gene3D	1.10.555.10. 1 hit.
InterPro	IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. [Graphical view]
Pfam	PF00620. RhoGAP. 1 hit. [Graphical view]
SMART	SM00324. RhoGAP. 1 hit. [Graphical view]
SUPFAM	SSF48350. Rho_GAP. 1 hit.
PROSITE	PS50238. RHOGAP. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

RHG40_HUMAN

Accession

Primary (citable) accession number: Q5TG30

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	April 29, 2008
Last modified:	May 1, 2013
This is version 66 of the entry and version 3 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.