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Q9UJF2

- NGAP_HUMAN

UniProt

Q9UJF2 - NGAP_HUMAN

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Protein

Ras GTPase-activating protein nGAP

Gene

RASAL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Inhibitory regulator of the Ras-cyclic AMP pathway.

GO - Molecular functioni

  1. Ras GTPase activator activity Source: RefGenome

GO - Biological processi

  1. negative regulation of Ras protein signal transduction Source: RefGenome
  2. positive regulation of Ras GTPase activity Source: RefGenome
  3. signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
Ras GTPase-activating protein nGAP
Alternative name(s):
RAS protein activator-like 2
Gene namesi
Name:RASAL2
Synonyms:NGAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:9874. RASAL2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: RefGenome
  2. intrinsic component of the cytoplasmic side of the plasma membrane Source: RefGenome
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11391139Ras GTPase-activating protein nGAPPRO_0000056653Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei16 – 161Phosphoserine1 Publication
Modified residuei89 – 891Phosphoserine1 Publication
Modified residuei663 – 6631Phosphoserine1 Publication
Modified residuei864 – 8641Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UJF2.
PaxDbiQ9UJF2.
PRIDEiQ9UJF2.

PTM databases

PhosphoSiteiQ9UJF2.

Expressioni

Gene expression databases

BgeeiQ9UJF2.
CleanExiHS_RASAL2.
ExpressionAtlasiQ9UJF2. baseline and differential.
GenevestigatoriQ9UJF2.

Organism-specific databases

HPAiHPA018805.
HPA020453.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9WMX22EBI-359444,EBI-6863741From a different organism.

Protein-protein interaction databases

BioGridi114848. 8 interactions.
DIPiDIP-27570N.
IntActiQ9UJF2. 8 interactions.
MINTiMINT-1137307.
STRINGi9606.ENSP00000263528.

Structurei

3D structure databases

ProteinModelPortaliQ9UJF2.
SMRiQ9UJF2. Positions 285-625.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini41 – 158118PHAdd
BLAST
Domaini170 – 26697C2Add
BLAST
Domaini327 – 519193Ras-GAPPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi237 – 2437Poly-Lys
Compositional biasi922 – 9254Poly-Ser

Sequence similaritiesi

Contains 1 C2 domain.Curated
Contains 1 PH domain.Curated
Contains 1 Ras-GAP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG245428.
GeneTreeiENSGT00760000119092.
HOGENOMiHOG000231979.
HOVERGENiHBG006492.
InParanoidiQ9UJF2.
KOiK17633.
OMAiPSNSSME.
OrthoDBiEOG74XS5P.
PhylomeDBiQ9UJF2.
TreeFamiTF105303.

Family and domain databases

Gene3Di1.10.506.10. 1 hit.
2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR021887. DUF3498.
IPR001849. PH_domain.
IPR001936. RasGAP.
IPR023152. RasGAP_CS.
IPR008936. Rho_GTPase_activation_prot.
[Graphical view]
PfamiPF00168. C2. 1 hit.
PF12004. DUF3498. 1 hit.
PF00616. RasGAP. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
SM00233. PH. 1 hit.
SM00323. RasGAP. 1 hit.
[Graphical view]
SUPFAMiSSF48350. SSF48350. 1 hit.
SSF49562. SSF49562. 1 hit.
PROSITEiPS00509. RAS_GTPASE_ACTIV_1. 1 hit.
PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UJF2-1) [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

        10         20         30         40         50
MQTPEVPAER SPRRRSISGT STSEKPNSMD TANTSPFKVP GFFSKRLKGS
60 70 80 90 100
IKRTKSQSKL DRNTSFRLPS LRSTDDRSRG LPKLKESRSH ESLLSPCSTV
110 120 130 140 150
ECLDLGRGEP VSVKPLHSSI LGQDFCFEVT YLSGSKCFSC NSASERDKWM
160 170 180 190 200
ENLRRTVQPN KDNCRRAENV LRLWIIEAKD LAPKKKYFCE LCLDDTLFAR
210 220 230 240 250
TTSKTKADNI FWGEHFEFFS LPPLHSITVH IYKDVEKKKK KDKNNYVGLV
260 270 280 290 300
NIPTASVTGR QFVEKWYPVS TPTPNKGKTG GPSIRIKSRF QTITILPMEQ
310 320 330 340 350
YKEFAEFVTS NYTMLCSVLE PVISVRNKEE LACALVHILQ STGRAKDFLT
360 370 380 390 400
DLVMSEVDRC GEHDVLIFRE NTIATKSIEE YLKLVGQQYL HDALGEFIKA
410 420 430 440 450
LYESDENCEV DPSKCSSSEL IDHQSNLKMC CELAFCKIIN SYCVFPRELK
460 470 480 490 500
EVFASWKQQC LNRGKQDISE RLISASLFLR FLCPAIMSPS LFNLMQEYPD
510 520 530 540 550
DRTSRTLTLI AKVIQNLANF AKFGNKEEYM AFMNDFLEHE WGGMKRFLLE
560 570 580 590 600
ISNPDTISNT PGFDGYIDLG RELSVLHSLL WEVVSQLDKG ENSFLQATVA
610 620 630 640 650
KLGPLPRVLA DITKSLTNPT PIQQQLRRFT EHNSSPNVSG SLSSGLQKIF
660 670 680 690 700
EDPTDSDLHK LKSPSQDNTD SYFRGKTLLL VQQASSQSMT YSEKDERESS
710 720 730 740 750
LPNGRSVSLM DLQDTHAAQV EHASVMLDVP IRLTGSQLSI TQVASIKQLR
760 770 780 790 800
ETQSTPQSAP QVRRPLHPAL NQPGGLQPLS FQNPVYHLNN PIPAMPKASI
810 820 830 840 850
DSSLENLSTA SSRSQSNSED FKLSGPSNSS MEDFTKRSTQ SEDFSRRHTV
860 870 880 890 900
PDRHIPLALP RQNSTGQAQI RKVDQGGLGA RAKAPPSLPH SASLRSTGSM
910 920 930 940 950
SVVSAALVAE PVQNGSRSRQ QSSSSRESPV PKVRAIQRQQ TQQVQSPVDS
960 970 980 990 1000
ATMSPVERTA AWVLNNGQYE EDVEETEQNL DEAKHAEKYE QEITKLKERL
1010 1020 1030 1040 1050
RVSSRRLEEY ERRLLVQEQQ MQKLLLEYKA RLEDSEERLR RQQEEKDSQM
1060 1070 1080 1090 1100
KSIISRLMAV EEELKKDHAE MQAVIDAKQK IIDAQEKRIV SLDSANTRLM
1110 1120 1130
SALTQVKERY SMQVRNGISP TNPTKLSITE NGEFKNSSC
Length:1,139
Mass (Da):128,558
Last modified:May 4, 2001 - v2
Checksum:i4A65C8243E1259A3
GO
Isoform 2 (identifier: Q9UJF2-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:1,280
Mass (Da):143,899
Checksum:iD80E7D066C699560
GO

Sequence cautioni

The sequence AAI10612.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651R → W in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035541
Natural varianti379 – 3791E → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_035542

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 44MQTP → MELSPSSGGAAEALSWPEMF PALESDSPLPPEDLDAVVPV SGAVAGGMLDRILLESVCQQ QSWVRVYDVKGPPTHRLSCG QSPYTETTTWERKYCILTDS QLVLLNKEKEIPVEGGQEQQ TDSTKGRCLRRTVSVPSEGQ FPEYPPEGATKL in isoform 2. 1 PublicationVSP_045777
Alternative sequencei590 – 5967Missing in isoform 2. 1 PublicationVSP_045778

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1321.2. [Q9UJF2-2]
CCDS1322.1. [Q9UJF2-1]
RefSeqiNP_004832.1. NM_004841.3. [Q9UJF2-1]
NP_733793.2. NM_170692.2. [Q9UJF2-2]
UniGeneiHs.496139.

Genome annotation databases

EnsembliENST00000367649; ENSP00000356621; ENSG00000075391. [Q9UJF2-2]
ENST00000462775; ENSP00000420558; ENSG00000075391. [Q9UJF2-1]
GeneIDi9462.
KEGGihsa:9462.
UCSCiuc001glr.3. human. [Q9UJF2-1]

Polymorphism databases

DMDMi13959419.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS1321.2. [Q9UJF2-2 ]
CCDS1322.1. [Q9UJF2-1 ]
RefSeqi NP_004832.1. NM_004841.3. [Q9UJF2-1 ]
NP_733793.2. NM_170692.2. [Q9UJF2-2 ]
UniGenei Hs.496139.

3D structure databases

ProteinModelPortali Q9UJF2.
SMRi Q9UJF2. Positions 285-625.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114848. 8 interactions.
DIPi DIP-27570N.
IntActi Q9UJF2. 8 interactions.
MINTi MINT-1137307.
STRINGi 9606.ENSP00000263528.

PTM databases

PhosphoSitei Q9UJF2.

Polymorphism databases

DMDMi 13959419.

Proteomic databases

MaxQBi Q9UJF2.
PaxDbi Q9UJF2.
PRIDEi Q9UJF2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367649 ; ENSP00000356621 ; ENSG00000075391 . [Q9UJF2-2 ]
ENST00000462775 ; ENSP00000420558 ; ENSG00000075391 . [Q9UJF2-1 ]
GeneIDi 9462.
KEGGi hsa:9462.
UCSCi uc001glr.3. human. [Q9UJF2-1 ]

Organism-specific databases

CTDi 9462.
GeneCardsi GC01P178063.
HGNCi HGNC:9874. RASAL2.
HPAi HPA018805.
HPA020453.
MIMi 606136. gene.
neXtProti NX_Q9UJF2.
PharmGKBi PA34235.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG245428.
GeneTreei ENSGT00760000119092.
HOGENOMi HOG000231979.
HOVERGENi HBG006492.
InParanoidi Q9UJF2.
KOi K17633.
OMAi PSNSSME.
OrthoDBi EOG74XS5P.
PhylomeDBi Q9UJF2.
TreeFami TF105303.

Miscellaneous databases

ChiTaRSi RASAL2. human.
GeneWikii RASAL2.
GenomeRNAii 9462.
NextBioi 35446.
PROi Q9UJF2.
SOURCEi Search...

Gene expression databases

Bgeei Q9UJF2.
CleanExi HS_RASAL2.
ExpressionAtlasi Q9UJF2. baseline and differential.
Genevestigatori Q9UJF2.

Family and domain databases

Gene3Di 1.10.506.10. 1 hit.
2.60.40.150. 1 hit.
InterProi IPR000008. C2_dom.
IPR021887. DUF3498.
IPR001849. PH_domain.
IPR001936. RasGAP.
IPR023152. RasGAP_CS.
IPR008936. Rho_GTPase_activation_prot.
[Graphical view ]
Pfami PF00168. C2. 1 hit.
PF12004. DUF3498. 1 hit.
PF00616. RasGAP. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 1 hit.
SM00233. PH. 1 hit.
SM00323. RasGAP. 1 hit.
[Graphical view ]
SUPFAMi SSF48350. SSF48350. 1 hit.
SSF49562. SSF49562. 1 hit.
PROSITEi PS00509. RAS_GTPASE_ACTIV_1. 1 hit.
PS50018. RAS_GTPASE_ACTIV_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-89 AND SER-663, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "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.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] TRP-165 AND ASP-379.

Entry informationi

Entry nameiNGAP_HUMAN
AccessioniPrimary (citable) accession number: Q9UJF2
Secondary accession number(s): F8W755
, O95174, Q2TB22, Q5TFU9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 4, 2001
Last sequence update: May 4, 2001
Last modified: October 29, 2014
This is version 121 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3