Q9NZL6 (RGL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ral guanine nucleotide dissociation stimulator-like 1
Short name=RalGDS-like 1

Gene names

Name:	RGL1
Synonyms:	KIAA0959, RGL

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	768 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular lipid metabolic process Traceable author statement. Source: Reactome regulation of small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro small GTPase mediated signal transduction Non-traceable author statement Ref.1. Source: UniProtKB small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	Ral guanyl-nucleotide exchange factor activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 768	768	Ral guanine nucleotide dissociation stimulator-like 1		PRO_0000068885
Regions
	Domain	65 – 196	132	N-terminal Ras-GEF
	Domain	232 – 501	270	Ras-GEF
	Domain	648 – 735	88	Ras-associating
	Compositional bias	541 – 613	73	Ser-rich
Amino acid modifications
	Modified residue	520	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 9	9	MKLLWQAKM → MEVKPVGEPTQEVSKFKLST KVESTGHWLVEDHVRIWEVL KTEE in isoform B.		VSP_001824
	Natural variant	174	1	Y → S in a breast cancer sample; somatic mutation. Ref.7		VAR_035823
	Natural variant	699	1	V → M in a breast cancer sample; somatic mutation. Ref.7		VAR_035824
Experimental info
	Sequence conflict	15	1	W → G Ref.6
	Sequence conflict	687	1	N → Y Ref.6
	Sequence conflict	761	1	N → Y in AAF67281. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 5EE4AF6D5E0C2386	FASTA	768	86,701
	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
	Isoform B [UniParc]. Checksum: 296B9ED349ECBC1C	FASTA	803	90,690
	10 20 30 40 50 60 MEVKPVGEPT QEVSKFKLST KVESTGHWLV EDHVRIWEVL KTEESSIQDW GEEVEEGAVY 70 80 90 100 110 120 HVTLKRVQIQ QAANKGARWL GVEGDQLPPG HTVSQYETCK IRTIKAGTLE KLVENLLTAF 130 140 150 160 170 180 GDNDFTYISI FLSTYRGFAS TKEVLELLLD RYGNLTSPNC EEDGSQSSSE SKMVIRNAIA 190 200 210 220 230 240 SILRAWLDQC AEDFREPPHF PCLQKLLDYL TRMMPGSDPE RRAQNLLEQF QKQEVETDNG 250 260 270 280 290 300 LPNTISFSLE EEEELEGGES AEFTCFSEDL VAEQLTYMDA QLFKKVVPHH CLGCIWSRRD 310 320 330 340 350 360 KKENKHLAPT IRATISQFNT LTKCVVSTIL GGKELKTQQR AKIIEKWINI AHECRLLKNF 370 380 390 400 410 420 SSLRAIVSAL QSNSIYRLKK TWAAVPRDRM LMFEELSDIF SDHNNHLTSR ELLMKEGTSK 430 440 450 460 470 480 FANLDSSVKE NQKRTQRRLQ LQKDMGVMQG TVPYLGTFLT DLTMLDTALQ DYIEGGLINF 490 500 510 520 530 540 EKRRREFEVI AQIKLLQSAC NSYCMTPDQK FIQWFQRQQL LTEEESYALS CEIEAAADAS 550 560 570 580 590 600 TTSPKPRKSM VKRLSLLFLG SDMITSPTPT KEQPKSTASG SSGESMDSVS VSSCESNHSE 610 620 630 640 650 660 AEEGSITPMD TPDEPQKKLS ESSSSCSSIH SMDTNSSGMS SLINPLSSPP SCNNNPKIHK 670 680 690 700 710 720 RSVSVTSITS TVLPPVYNQQ NEDTCIIRIS VEDNNGNMYK SIMLTSQDKT PAVIQRAMLK 730 740 750 760 770 780 HNLDSDPAEE YELVQVISED KELVIPDSAN VFYAMNSQVN FDFILRKKNS MEEQVKLRSR 790 800 TSLTLPRTAK RGCWSNRHSK ITL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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 , AF186781, AF186783, AF186784, AF186785, AF186786, AF186787, AF186788, AF186789, AF186790, AF186791, AF186792, AF186793, AF186794, AF186795, AF186796, AF186797 Genomic DNA. Translation: AAG14400.1. AF186798 , 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.
IPI	IPI00299679. IPI00396431.
PIR	T12453.
RefSeq	NP_055964.3. NM_015149.3.
UniGene	Hs.497148.
3D structure databases
ProteinModelPortal	Q9NZL6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NZL6. 2 interactions.
STRING	9606.ENSP00000303192.
PTM databases
PhosphoSite	Q9NZL6.
Polymorphism databases
DMDM	14548230.
Proteomic databases
PaxDb	Q9NZL6.
PRIDE	Q9NZL6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000304685; ENSP00000303192; ENSG00000143344. ENST00000360851; ENSP00000354097; ENSG00000143344. ENST00000367531; ENSP00000356501; ENSG00000143344.
GeneID	23179.
KEGG	hsa:23179.
UCSC	uc001gqo.3. human.
Organism-specific databases
CTD	23179.
GeneCards	GC01P183605.
H-InvDB	HIX0001411.
HGNC	HGNC:30281. RGL1.
HPA	HPA019788.
MIM	605667. gene.
neXtProt	NX_Q9NZL6.
PharmGKB	PA134934636.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG308735.
HOVERGEN	HBG005864.
OMA	WSNRHSK.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9NZL6.
Bgee	Q9NZL6.
CleanEx	HS_RGL1.
Genevestigator	Q9NZL6.
GermOnline	ENSG00000143344. Homo sapiens.
Family and domain databases
Gene3D	1.10.840.10. 2 hits.
InterPro	IPR000159. 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]
PANTHER	PTHR23113. PTHR23113. 1 hit.
Pfam	PF00788. RA. 1 hit. PF00617. RasGEF. 1 hit. PF00618. RasGEF_N. 1 hit. [Graphical view]
SMART	SM00314. RA. 1 hit. SM00147. RasGEF. 1 hit. SM00229. RasGEFN. 1 hit. [Graphical view]
SUPFAM	SSF48366. Ras_GEF. 1 hit.
PROSITE	PS50200. RA. 1 hit. PS00720. RASGEF. 1 hit. PS50009. RASGEF_CAT. 1 hit. PS50212. RASGEF_NTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RGL1. human.
GenomeRNAi	23179.
NextBio	44629.
SOURCE	Search...

Entry information

Entry name

RGL1_HUMAN

Accession

Primary (citable) accession number: Q9NZL6
Secondary accession number(s): Q5SXQ2 , Q5SXQ6, Q9HBY3, Q9HBY4, Q9NZL5, Q9UG43, Q9Y2G6

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 110 of the entry and version 1 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.