Q9UJF2 (NGAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras GTPase-activating protein nGAP

Alternative name(s):
RAS protein activator-like 2

Gene names

Name:	RASAL2
Synonyms:	NGAP

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	1139 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Inhibitory regulator of the Ras-cyclic AMP pathway.
Sequence similarities	Contains 1 C2 domain. Contains 1 PH domain. Contains 1 Ras-GAP domain.
Sequence caution	The sequence AAI10612.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	GTPase activation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of Ras protein signal transduction Inferred from Biological aspect of Ancestor. Source: RefGenome signal transduction Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome intrinsic to internal side of plasma membrane Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	Ras GTPase activator activity Inferred from Biological aspect of Ancestor. Source: RefGenome phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9UJF2-1)

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: Q9UJF2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MQTP → MELSPSSGGA...EYPPEGATKL
     590-596: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1139	1139	Ras GTPase-activating protein nGAP		PRO_0000056653
Regions
	Domain	41 – 158	118	PH
	Domain	170 – 266	97	C2
	Domain	327 – 519	193	Ras-GAP
	Compositional bias	237 – 243	7	Poly-Lys
	Compositional bias	922 – 925	4	Poly-Ser
Amino acid modifications
	Modified residue	16	1	Phosphoserine Ref.4
	Modified residue	89	1	Phosphoserine Ref.4
	Modified residue	663	1	Phosphoserine Ref.4
	Modified residue	864	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 4	4	MQTP → MELSPSSGGAAEALSWPEMF PALESDSPLPPEDLDAVVPV SGAVAGGMLDRILLESVCQQ QSWVRVYDVKGPPTHRLSCG QSPYTETTTWERKYCILTDS QLVLLNKEKEIPVEGGQEQQ TDSTKGRCLRRTVSVPSEGQ FPEYPPEGATKL in isoform 2.		VSP_045777
	Alternative sequence	590 – 596	7	Missing in isoform 2.		VSP_045778
	Natural variant	165	1	R → W in a colorectal cancer sample; somatic mutation. Ref.8		VAR_035541
	Natural variant	379	1	E → D in a breast cancer sample; somatic mutation. Ref.8		VAR_035542

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 4, 2001. Version 2. Checksum: 4A65C8243E1259A3	FASTA	1,139	128,558
	10 20 30 40 50 60 MQTPEVPAER SPRRRSISGT STSEKPNSMD TANTSPFKVP GFFSKRLKGS IKRTKSQSKL 70 80 90 100 110 120 DRNTSFRLPS LRSTDDRSRG LPKLKESRSH ESLLSPCSTV ECLDLGRGEP VSVKPLHSSI 130 140 150 160 170 180 LGQDFCFEVT YLSGSKCFSC NSASERDKWM ENLRRTVQPN KDNCRRAENV LRLWIIEAKD 190 200 210 220 230 240 LAPKKKYFCE LCLDDTLFAR TTSKTKADNI FWGEHFEFFS LPPLHSITVH IYKDVEKKKK 250 260 270 280 290 300 KDKNNYVGLV NIPTASVTGR QFVEKWYPVS TPTPNKGKTG GPSIRIKSRF QTITILPMEQ 310 320 330 340 350 360 YKEFAEFVTS NYTMLCSVLE PVISVRNKEE LACALVHILQ STGRAKDFLT DLVMSEVDRC 370 380 390 400 410 420 GEHDVLIFRE NTIATKSIEE YLKLVGQQYL HDALGEFIKA LYESDENCEV DPSKCSSSEL 430 440 450 460 470 480 IDHQSNLKMC CELAFCKIIN SYCVFPRELK EVFASWKQQC LNRGKQDISE RLISASLFLR 490 500 510 520 530 540 FLCPAIMSPS LFNLMQEYPD DRTSRTLTLI AKVIQNLANF AKFGNKEEYM AFMNDFLEHE 550 560 570 580 590 600 WGGMKRFLLE ISNPDTISNT PGFDGYIDLG RELSVLHSLL WEVVSQLDKG ENSFLQATVA 610 620 630 640 650 660 KLGPLPRVLA DITKSLTNPT PIQQQLRRFT EHNSSPNVSG SLSSGLQKIF EDPTDSDLHK 670 680 690 700 710 720 LKSPSQDNTD SYFRGKTLLL VQQASSQSMT YSEKDERESS LPNGRSVSLM DLQDTHAAQV 730 740 750 760 770 780 EHASVMLDVP IRLTGSQLSI TQVASIKQLR ETQSTPQSAP QVRRPLHPAL NQPGGLQPLS 790 800 810 820 830 840 FQNPVYHLNN PIPAMPKASI DSSLENLSTA SSRSQSNSED FKLSGPSNSS MEDFTKRSTQ 850 860 870 880 890 900 SEDFSRRHTV PDRHIPLALP RQNSTGQAQI RKVDQGGLGA RAKAPPSLPH SASLRSTGSM 910 920 930 940 950 960 SVVSAALVAE PVQNGSRSRQ QSSSSRESPV PKVRAIQRQQ TQQVQSPVDS ATMSPVERTA 970 980 990 1000 1010 1020 AWVLNNGQYE EDVEETEQNL DEAKHAEKYE QEITKLKERL RVSSRRLEEY ERRLLVQEQQ 1030 1040 1050 1060 1070 1080 MQKLLLEYKA RLEDSEERLR RQQEEKDSQM KSIISRLMAV EEELKKDHAE MQAVIDAKQK 1090 1100 1110 1120 1130 IIDAQEKRIV SLDSANTRLM SALTQVKERY SMQVRNGISP TNPTKLSITE NGEFKNSSC
	Isoform 2 [UniParc]. Checksum: D80E7D066C699560	FASTA	1,280	143,899
	10 20 30 40 50 60 MELSPSSGGA AEALSWPEMF PALESDSPLP PEDLDAVVPV SGAVAGGMLD RILLESVCQQ 70 80 90 100 110 120 QSWVRVYDVK GPPTHRLSCG QSPYTETTTW ERKYCILTDS QLVLLNKEKE IPVEGGQEQQ 130 140 150 160 170 180 TDSTKGRCLR RTVSVPSEGQ FPEYPPEGAT KLEVPAERSP RRRSISGTST SEKPNSMDTA 190 200 210 220 230 240 NTSPFKVPGF FSKRLKGSIK RTKSQSKLDR NTSFRLPSLR STDDRSRGLP KLKESRSHES 250 260 270 280 290 300 LLSPCSTVEC LDLGRGEPVS VKPLHSSILG QDFCFEVTYL SGSKCFSCNS ASERDKWMEN 310 320 330 340 350 360 LRRTVQPNKD NCRRAENVLR LWIIEAKDLA PKKKYFCELC LDDTLFARTT SKTKADNIFW 370 380 390 400 410 420 GEHFEFFSLP PLHSITVHIY KDVEKKKKKD KNNYVGLVNI PTASVTGRQF VEKWYPVSTP 430 440 450 460 470 480 TPNKGKTGGP SIRIKSRFQT ITILPMEQYK EFAEFVTSNY TMLCSVLEPV ISVRNKEELA 490 500 510 520 530 540 CALVHILQST GRAKDFLTDL VMSEVDRCGE HDVLIFRENT IATKSIEEYL KLVGQQYLHD 550 560 570 580 590 600 ALGEFIKALY ESDENCEVDP SKCSSSELID HQSNLKMCCE LAFCKIINSY CVFPRELKEV 610 620 630 640 650 660 FASWKQQCLN RGKQDISERL ISASLFLRFL CPAIMSPSLF NLMQEYPDDR TSRTLTLIAK 670 680 690 700 710 720 VIQNLANFAK FGNKEEYMAF MNDFLEHEWG GMKRFLLEIS NPDTISNTPG FDGYIDLGRE 730 740 750 760 770 780 LSVLHSLLWE VVSQLDKATV AKLGPLPRVL ADITKSLTNP TPIQQQLRRF TEHNSSPNVS 790 800 810 820 830 840 GSLSSGLQKI FEDPTDSDLH KLKSPSQDNT DSYFRGKTLL LVQQASSQSM TYSEKDERES 850 860 870 880 890 900 SLPNGRSVSL MDLQDTHAAQ VEHASVMLDV PIRLTGSQLS ITQVASIKQL RETQSTPQSA 910 920 930 940 950 960 PQVRRPLHPA LNQPGGLQPL SFQNPVYHLN NPIPAMPKAS IDSSLENLST ASSRSQSNSE 970 980 990 1000 1010 1020 DFKLSGPSNS SMEDFTKRST QSEDFSRRHT VPDRHIPLAL PRQNSTGQAQ IRKVDQGGLG 1030 1040 1050 1060 1070 1080 ARAKAPPSLP HSASLRSTGS MSVVSAALVA EPVQNGSRSR QQSSSSRESP VPKVRAIQRQ 1090 1100 1110 1120 1130 1140 QTQQVQSPVD SATMSPVERT AAWVLNNGQY EEDVEETEQN LDEAKHAEKY EQEITKLKER 1150 1160 1170 1180 1190 1200 LRVSSRRLEE YERRLLVQEQ QMQKLLLEYK ARLEDSEERL RRQQEEKDSQ MKSIISRLMA 1210 1220 1230 1240 1250 1260 VEEELKKDHA EMQAVIDAKQ KIIDAQEKRI VSLDSANTRL MSALTQVKER YSMQVRNGIS 1270 1280 PTNPTKLSIT ENGEFKNSSC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human RasGAP-like gene that maps within the prostate cancer susceptibility locus at chromosome 1q25." Noto S., Maeda T., Hattori S., Inazawa J., Imamura M., Asaka M., Hatakeyama M. FEBS Lett. 441:127-131(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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 3-1139 (ISOFORM 2).
[4]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-89 AND SER-663, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-864, MASS SPECTROMETRY.
[8]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] TRP-165 AND ASP-379.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF047711 mRNA. Translation: AAD04814.1. AL035702, AL365357 Genomic DNA. Translation: CAI21912.1. AL365357, AL035702 Genomic DNA. Translation: CAI22693.1. AL160281 Genomic DNA. No translation available. AL499617 Genomic DNA. No translation available. BC110611 mRNA. Translation: AAI10612.1. Different initiation.
IPI	IPI00006854. IPI00946817.
RefSeq	NP_004832.1. NM_004841.3. NP_733793.2. NM_170692.2.
UniGene	Hs.496139.
3D structure databases
ProteinModelPortal	Q9UJF2.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-27570N.
IntAct	Q9UJF2. 4 interactions.
MINT	MINT-1137307.
STRING	9606.ENSP00000263528.
PTM databases
PhosphoSite	Q9UJF2.
Polymorphism databases
DMDM	13959419.
Proteomic databases
PaxDb	Q9UJF2.
PRIDE	Q9UJF2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367649; ENSP00000356621; ENSG00000075391. ENST00000462775; ENSP00000420558; ENSG00000075391.
GeneID	9462.
KEGG	hsa:9462.
UCSC	uc001glr.3. human.
Organism-specific databases
CTD	9462.
GeneCards	GC01P178063.
HGNC	HGNC:9874. RASAL2.
HPA	HPA018805. HPA020453.
MIM	606136. gene.
neXtProt	NX_Q9UJF2.
PharmGKB	PA34235.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG245428.
HOGENOM	HOG000231979.
HOVERGEN	HBG006492.
Gene expression databases
ArrayExpress	Q9UJF2.
Bgee	Q9UJF2.
CleanEx	HS_RASAL2.
Genevestigator	Q9UJF2.
GermOnline	ENSG00000075391. Homo sapiens.
Family and domain databases
Gene3D	1.10.506.10. 1 hit.
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR021887. DUF3498. IPR001849. Pleckstrin_homology. IPR001936. RasGAP. IPR023152. RasGAP_CS. IPR008936. Rho_GTPase_activation_prot. [Graphical view]
Pfam	PF00168. C2. 1 hit. PF12004. DUF3498. 1 hit. PF00616. RasGAP. 1 hit. [Graphical view]
SMART	SM00239. C2. 1 hit. SM00233. PH. 1 hit. SM00323. RasGAP. 1 hit. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 1 hit. SSF48350. Rho_GAP. 1 hit.
PROSITE	PS50004. C2. False negative. PS50003. PH_DOMAIN. False negative. PS00509. RAS_GTPASE_ACTIV_1. 1 hit. PS50018. RAS_GTPASE_ACTIV_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RASAL2. human.
GenomeRNAi	9462.
NextBio	35446.
SOURCE	Search...

Entry information

Entry name

NGAP_HUMAN

Accession

Primary (citable) accession number: Q9UJF2
Secondary accession number(s): F8W755 , O95174, Q2TB22, Q5TFU9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 4, 2001
Last sequence update:	May 4, 2001
Last modified:	May 1, 2013
This is version 106 of the entry and version 2 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.