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Q9NZL6

- RGL1_HUMAN

UniProt

Q9NZL6 - RGL1_HUMAN

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Protein

Ral guanine nucleotide dissociation stimulator-like 1

Gene

RGL1

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

Functioni

Probable guanine nucleotide exchange factor.

GO - Molecular functioni

  1. Ral guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

  1. cellular lipid metabolic process Source: Reactome
  2. positive regulation of Ral GTPase activity Source: GOC
  3. small GTPase mediated signal transduction Source: UniProtKB
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiREACT_116145. PPARA activates gene expression.

Names & Taxonomyi

Protein namesi
Recommended name:
Ral guanine nucleotide dissociation stimulator-like 1
Short name:
RalGDS-like 1
Gene namesi
Name:RGL1
Synonyms:KIAA0959, RGL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:30281. RGL1.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134934636.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 768768Ral guanine nucleotide dissociation stimulator-like 1PRO_0000068885Add
BLAST

Proteomic databases

PaxDbiQ9NZL6.
PRIDEiQ9NZL6.

PTM databases

PhosphoSiteiQ9NZL6.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NZL6.
CleanExiHS_RGL1.
GenevestigatoriQ9NZL6.

Organism-specific databases

HPAiHPA019788.

Interactioni

Subunit structurei

Interacts with Ras.By similarity

Protein-protein interaction databases

BioGridi116791. 2 interactions.
DIPiDIP-31372N.
IntActiQ9NZL6. 2 interactions.
STRINGi9606.ENSP00000303192.

Structurei

3D structure databases

ProteinModelPortaliQ9NZL6.
SMRiQ9NZL6. Positions 10-502, 647-734.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 196132N-terminal Ras-GEFPROSITE-ProRule annotationAdd
BLAST
Domaini232 – 501270Ras-GEFPROSITE-ProRule annotationAdd
BLAST
Domaini648 – 73588Ras-associatingPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi541 – 61373Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 N-terminal Ras-GEF domain.PROSITE-ProRule annotation
Contains 1 Ras-associating domain.PROSITE-ProRule annotation
Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG308735.
GeneTreeiENSGT00760000118829.
HOVERGENiHBG005864.
InParanoidiQ9NZL6.
KOiK17635.
OMAiKRGCWSN.
OrthoDBiEOG76DTRS.
PhylomeDBiQ9NZL6.
TreeFamiTF315204.

Family and domain databases

Gene3Di1.10.840.10. 2 hits.
InterProiIPR000159. Ras-assoc.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF00788. RA. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
[Graphical view]
SMARTiSM00314. RA. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
[Graphical view]
SUPFAMiSSF48366. SSF48366. 2 hits.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50200. RA. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform A (identifier: Q9NZL6) [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
MKLLWQAKMS SIQDWGEEVE EGAVYHVTLK RVQIQQAANK GARWLGVEGD
60 70 80 90 100
QLPPGHTVSQ YETCKIRTIK AGTLEKLVEN LLTAFGDNDF TYISIFLSTY
110 120 130 140 150
RGFASTKEVL ELLLDRYGNL TSPNCEEDGS QSSSESKMVI RNAIASILRA
160 170 180 190 200
WLDQCAEDFR EPPHFPCLQK LLDYLTRMMP GSDPERRAQN LLEQFQKQEV
210 220 230 240 250
ETDNGLPNTI SFSLEEEEEL EGGESAEFTC FSEDLVAEQL TYMDAQLFKK
260 270 280 290 300
VVPHHCLGCI WSRRDKKENK HLAPTIRATI SQFNTLTKCV VSTILGGKEL
310 320 330 340 350
KTQQRAKIIE KWINIAHECR LLKNFSSLRA IVSALQSNSI YRLKKTWAAV
360 370 380 390 400
PRDRMLMFEE LSDIFSDHNN HLTSRELLMK EGTSKFANLD SSVKENQKRT
410 420 430 440 450
QRRLQLQKDM GVMQGTVPYL GTFLTDLTML DTALQDYIEG GLINFEKRRR
460 470 480 490 500
EFEVIAQIKL LQSACNSYCM TPDQKFIQWF QRQQLLTEEE SYALSCEIEA
510 520 530 540 550
AADASTTSPK PRKSMVKRLS LLFLGSDMIT SPTPTKEQPK STASGSSGES
560 570 580 590 600
MDSVSVSSCE SNHSEAEEGS ITPMDTPDEP QKKLSESSSS CSSIHSMDTN
610 620 630 640 650
SSGMSSLINP LSSPPSCNNN PKIHKRSVSV TSITSTVLPP VYNQQNEDTC
660 670 680 690 700
IIRISVEDNN GNMYKSIMLT SQDKTPAVIQ RAMLKHNLDS DPAEEYELVQ
710 720 730 740 750
VISEDKELVI PDSANVFYAM NSQVNFDFIL RKKNSMEEQV KLRSRTSLTL
760
PRTAKRGCWS NRHSKITL
Length:768
Mass (Da):86,701
Last modified:October 1, 2000 - v1
Checksum:i5EE4AF6D5E0C2386
GO
Isoform B (identifier: Q9NZL6-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:803
Mass (Da):90,690
Checksum:i296B9ED349ECBC1C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151W → G(PubMed:17974005)Curated
Sequence conflicti687 – 6871N → Y(PubMed:17974005)Curated
Sequence conflicti761 – 7611N → Y in AAF67281. (PubMed:10760592)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741Y → S in a breast cancer sample; somatic mutation. 1 Publication
VAR_035823
Natural varianti699 – 6991V → M in a breast cancer sample; somatic mutation. 1 Publication
VAR_035824

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99MKLLWQAKM → MEVKPVGEPTQEVSKFKLST KVESTGHWLVEDHVRIWEVL KTEE in isoform B. 2 PublicationsVSP_001824

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1359.1. [Q9NZL6-2]
CCDS72992.1. [Q9NZL6-1]
PIRiT12453.
RefSeqiNP_055964.3. NM_015149.4. [Q9NZL6-2]
UniGeneiHs.497148.

Genome annotation databases

EnsembliENST00000304685; ENSP00000303192; ENSG00000143344. [Q9NZL6-2]
ENST00000360851; ENSP00000354097; ENSG00000143344. [Q9NZL6-1]
GeneIDi23179.
KEGGihsa:23179.
UCSCiuc001gqm.3. human. [Q9NZL6-2]
uc001gqo.3. human. [Q9NZL6-1]

Polymorphism databases

DMDMi14548230.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1359.1. [Q9NZL6-2 ]
CCDS72992.1. [Q9NZL6-1 ]
PIRi T12453.
RefSeqi NP_055964.3. NM_015149.4. [Q9NZL6-2 ]
UniGenei Hs.497148.

3D structure databases

ProteinModelPortali Q9NZL6.
SMRi Q9NZL6. Positions 10-502, 647-734.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116791. 2 interactions.
DIPi DIP-31372N.
IntActi Q9NZL6. 2 interactions.
STRINGi 9606.ENSP00000303192.

PTM databases

PhosphoSitei Q9NZL6.

Polymorphism databases

DMDMi 14548230.

Proteomic databases

PaxDbi Q9NZL6.
PRIDEi Q9NZL6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000304685 ; ENSP00000303192 ; ENSG00000143344 . [Q9NZL6-2 ]
ENST00000360851 ; ENSP00000354097 ; ENSG00000143344 . [Q9NZL6-1 ]
GeneIDi 23179.
KEGGi hsa:23179.
UCSCi uc001gqm.3. human. [Q9NZL6-2 ]
uc001gqo.3. human. [Q9NZL6-1 ]

Organism-specific databases

CTDi 23179.
GeneCardsi GC01P183605.
H-InvDB HIX0001411.
HGNCi HGNC:30281. RGL1.
HPAi HPA019788.
MIMi 605667. gene.
neXtProti NX_Q9NZL6.
PharmGKBi PA134934636.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG308735.
GeneTreei ENSGT00760000118829.
HOVERGENi HBG005864.
InParanoidi Q9NZL6.
KOi K17635.
OMAi KRGCWSN.
OrthoDBi EOG76DTRS.
PhylomeDBi Q9NZL6.
TreeFami TF315204.

Enzyme and pathway databases

Reactomei REACT_116145. PPARA activates gene expression.

Miscellaneous databases

ChiTaRSi RGL1. human.
GenomeRNAii 23179.
NextBioi 44629.
PROi Q9NZL6.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZL6.
CleanExi HS_RGL1.
Genevestigatori Q9NZL6.

Family and domain databases

Gene3Di 1.10.840.10. 2 hits.
InterProi IPR000159. Ras-assoc.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view ]
Pfami PF00788. RA. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
[Graphical view ]
SMARTi SM00314. RA. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
[Graphical view ]
SUPFAMi SSF48366. SSF48366. 2 hits.
SSF54236. SSF54236. 1 hit.
PROSITEi PS50200. RA. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-768 (ISOFORM A).
    Tissue: Brain.
  7. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-174 AND MET-699.

Entry informationi

Entry nameiRGL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZL6
Secondary accession number(s): Q5SXQ2
, Q5SXQ6, Q9HBY3, Q9HBY4, Q9NZL5, Q9UG43, Q9Y2G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 125 of the entry and version 1 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