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Q9NZL6 (RGL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ral guanine nucleotide dissociation stimulator-like 1

Short name=RalGDS-like 1
Gene names
Name:RGL1
Synonyms:KIAA0959, RGL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length768 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable guanine nucleotide exchange factor.

Subunit structure

Interacts with Ras By similarity.

Tissue specificity

Expressed in a wide variety of tissues with strong expression being seen in the heart, brain, kidney, spleen and testis.

Sequence similarities

Contains 1 N-terminal Ras-GEF domain.

Contains 1 Ras-associating domain.

Contains 1 Ras-GEF domain.

Sequence caution

The sequence BAA76803.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: Q9NZL6-1)

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 B (identifier: Q9NZL6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MKLLWQAKM → MEVKPVGEPTQEVSKFKLSTKVESTGHWLVEDHVRIWEVLKTEE

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 768768Ral guanine nucleotide dissociation stimulator-like 1
PRO_0000068885

Regions

Domain65 – 196132N-terminal Ras-GEF
Domain232 – 501270Ras-GEF
Domain648 – 73588Ras-associating
Compositional bias541 – 61373Ser-rich

Natural variations

Alternative sequence1 – 99MKLLWQAKM → MEVKPVGEPTQEVSKFKLST KVESTGHWLVEDHVRIWEVL KTEE in isoform B.
VSP_001824
Natural variant1741Y → S in a breast cancer sample; somatic mutation. Ref.7
VAR_035823
Natural variant6991V → M in a breast cancer sample; somatic mutation. Ref.7
VAR_035824

Experimental info

Sequence conflict151W → G Ref.6
Sequence conflict6871N → Y Ref.6
Sequence conflict7611N → Y in AAF67281. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 5EE4AF6D5E0C2386

FASTA76886,701
        10         20         30         40         50         60 
MKLLWQAKMS SIQDWGEEVE EGAVYHVTLK RVQIQQAANK GARWLGVEGD QLPPGHTVSQ 

        70         80         90        100        110        120 
YETCKIRTIK AGTLEKLVEN LLTAFGDNDF TYISIFLSTY RGFASTKEVL ELLLDRYGNL 

       130        140        150        160        170        180 
TSPNCEEDGS QSSSESKMVI RNAIASILRA WLDQCAEDFR EPPHFPCLQK LLDYLTRMMP 

       190        200        210        220        230        240 
GSDPERRAQN LLEQFQKQEV ETDNGLPNTI SFSLEEEEEL EGGESAEFTC FSEDLVAEQL 

       250        260        270        280        290        300 
TYMDAQLFKK VVPHHCLGCI WSRRDKKENK HLAPTIRATI SQFNTLTKCV VSTILGGKEL 

       310        320        330        340        350        360 
KTQQRAKIIE KWINIAHECR LLKNFSSLRA IVSALQSNSI YRLKKTWAAV PRDRMLMFEE 

       370        380        390        400        410        420 
LSDIFSDHNN HLTSRELLMK EGTSKFANLD SSVKENQKRT QRRLQLQKDM GVMQGTVPYL 

       430        440        450        460        470        480 
GTFLTDLTML DTALQDYIEG GLINFEKRRR EFEVIAQIKL LQSACNSYCM TPDQKFIQWF 

       490        500        510        520        530        540 
QRQQLLTEEE SYALSCEIEA AADASTTSPK PRKSMVKRLS LLFLGSDMIT SPTPTKEQPK 

       550        560        570        580        590        600 
STASGSSGES MDSVSVSSCE SNHSEAEEGS ITPMDTPDEP QKKLSESSSS CSSIHSMDTN 

       610        620        630        640        650        660 
SSGMSSLINP LSSPPSCNNN PKIHKRSVSV TSITSTVLPP VYNQQNEDTC IIRISVEDNN 

       670        680        690        700        710        720 
GNMYKSIMLT SQDKTPAVIQ RAMLKHNLDS DPAEEYELVQ VISEDKELVI PDSANVFYAM 

       730        740        750        760 
NSQVNFDFIL RKKNSMEEQV KLRSRTSLTL PRTAKRGCWS NRHSKITL 

« Hide

Isoform B [UniParc].

Checksum: 296B9ED349ECBC1C
Show »

FASTA80390,690

References

« Hide 'large scale' references
[1]"The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization."
Sood R., Makalowska I., Carpten J.D., Robbins C.M., Stephan D.A., Connors T.D., Morgenbesser S.D., Su K., Pinkett H.W., Graham C.L., Quesenberry M.I., Baxevanis A.D., Klinger K.W., Trent J.M., Bonner T.I.
Biochim. Biophys. Acta 1491:285-288(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS A AND B).
[2]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
Tissue: Brain.
[3]"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. expand/collapse author list , 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].
[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]"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 B).
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-768 (ISOFORM A).
Tissue: Brain.
[7]"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. expand/collapse author list , 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] SER-174 AND MET-699.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF186779 mRNA. Translation: AAF67280.1.
AF186780 mRNA. Translation: AAF67281.1.
AF186798 expand/collapse EMBL AC list , AF186781, AF186783, AF186784, AF186785, AF186786, AF186787, AF186788, AF186789, AF186790, AF186791, AF186792, AF186793, AF186794, AF186795, AF186796, AF186797 Genomic DNA. Translation: AAG14400.1.
AF186798 expand/collapse EMBL AC list , AF192520, AF186783, AF186784, AF186785, AF186786, AF186787, AF186788, AF186789, AF186790, AF186791, AF186792, AF186793, AF186794, AF186795, AF186796, AF186797 Genomic DNA. Translation: AAG14401.1.
AB023176 mRNA. Translation: BAA76803.1. Different initiation.
AL590422, AL592299 Genomic DNA. Translation: CAH73873.1.
AL590422, AL592299 Genomic DNA. Translation: CAH73874.1.
AL592299, AL590422 Genomic DNA. Translation: CAI14720.1.
AL592299, AL590422 Genomic DNA. Translation: CAI14724.1.
CH471067 Genomic DNA. Translation: EAW91166.1.
CH471067 Genomic DNA. Translation: EAW91167.1.
BC136591 mRNA. Translation: AAI36592.1.
AL080117 mRNA. Translation: CAB45716.1.
PIRT12453.
RefSeqNP_055964.3. NM_015149.3.
XP_005245067.1. XM_005245010.1.
UniGeneHs.497148.

3D structure databases

ProteinModelPortalQ9NZL6.
SMRQ9NZL6. Positions 10-502, 647-734.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116791. 2 interactions.
IntActQ9NZL6. 2 interactions.
STRING9606.ENSP00000303192.

PTM databases

PhosphoSiteQ9NZL6.

Polymorphism databases

DMDM14548230.

Proteomic databases

PaxDbQ9NZL6.
PRIDEQ9NZL6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304685; ENSP00000303192; ENSG00000143344. [Q9NZL6-2]
ENST00000360851; ENSP00000354097; ENSG00000143344. [Q9NZL6-1]
GeneID23179.
KEGGhsa:23179.
UCSCuc001gqm.3. human. [Q9NZL6-2]
uc001gqo.3. human. [Q9NZL6-1]

Organism-specific databases

CTD23179.
GeneCardsGC01P183605.
H-InvDBHIX0001411.
HGNCHGNC:30281. RGL1.
HPAHPA019788.
MIM605667. gene.
neXtProtNX_Q9NZL6.
PharmGKBPA134934636.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308735.
HOVERGENHBG005864.
KOK17635.
OMAKRGCWSN.
OrthoDBEOG76DTRS.
PhylomeDBQ9NZL6.
TreeFamTF315204.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9NZL6.
BgeeQ9NZL6.
CleanExHS_RGL1.
GenevestigatorQ9NZL6.

Family and domain databases

Gene3D1.10.840.10. 2 hits.
InterProIPR000159. Ras-assoc.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR008937. Ras_GEF.
IPR023578. Ras_GEF_dom.
IPR001895. RasGRF_CDC25.
[Graphical view]
PANTHERPTHR23113. PTHR23113. 1 hit.
PfamPF00788. RA. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
[Graphical view]
SMARTSM00314. RA. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
[Graphical view]
SUPFAMSSF48366. SSF48366. 2 hits.
PROSITEPS50200. RA. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRGL1. human.
GenomeRNAi23179.
NextBio44629.
PROQ9NZL6.
SOURCESearch...

Entry information

Entry nameRGL1_HUMAN
AccessionPrimary (citable) accession number: Q9NZL6
Secondary accession number(s): Q5SXQ2 expand/collapse secondary AC list , Q5SXQ6, Q9HBY3, Q9HBY4, Q9NZL5, Q9UG43, Q9Y2G6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 119 of the entry and version 1 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

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 1

Human chromosome 1: entries, gene names and cross-references to MIM