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Q5VVW2

- GARL3_HUMAN

UniProt

Q5VVW2 - GARL3_HUMAN

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Protein

GTPase-activating Rap/Ran-GAP domain-like protein 3

Gene

GARNL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. GTPase activator activity Source: UniProtKB-KW
  2. small GTPase regulator activity Source: InterPro

GO - Biological processi

  1. regulation of small GTPase mediated signal transduction Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
GTPase-activating Rap/Ran-GAP domain-like protein 3
Gene namesi
Name:GARNL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:25425. GARNL3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134861523.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10131013GTPase-activating Rap/Ran-GAP domain-like protein 3PRO_0000312215Add
BLAST

Proteomic databases

MaxQBiQ5VVW2.
PaxDbiQ5VVW2.
PRIDEiQ5VVW2.

PTM databases

PhosphoSiteiQ5VVW2.

Expressioni

Gene expression databases

BgeeiQ5VVW2.
CleanExiHS_GARNL3.
ExpressionAtlasiQ5VVW2. baseline and differential.
GenevestigatoriQ5VVW2.

Organism-specific databases

HPAiHPA022433.
HPA028757.

Interactioni

Protein-protein interaction databases

BioGridi123980. 1 interaction.
STRINGi9606.ENSP00000362485.

Structurei

3D structure databases

ProteinModelPortaliQ5VVW2.
SMRiQ5VVW2. Positions 87-411.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini191 – 407217Rap-GAPPROSITE-ProRule annotationAdd
BLAST
Domaini489 – 800312CNHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the GARNL3 family.Curated
Contains 1 CNH domain.PROSITE-ProRule annotation
Contains 1 Rap-GAP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG240885.
GeneTreeiENSGT00760000119182.
HOGENOMiHOG000234088.
HOVERGENiHBG059186.
InParanoidiQ5VVW2.
OMAiIHSVYTV.
OrthoDBiEOG7S4X67.
PhylomeDBiQ5VVW2.
TreeFamiTF318626.

Family and domain databases

InterProiIPR001180. Citron.
IPR000331. Rap_GAP_dom.
[Graphical view]
PfamiPF00780. CNH. 1 hit.
PF02145. Rap_GAP. 1 hit.
[Graphical view]
PROSITEiPS50219. CNH. 1 hit.
PS50085. RAPGAP. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q5VVW2-1) [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
MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI
60 70 80 90 100
SSDADGAIQR AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF
110 120 130 140 150
KYFLGQVHQN YIGNDAEKSP FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK
160 170 180 190 200
ICLPYSPTKT LSVKSILSAM NLDKFEKGPR EIFHPEIQKD LLVLEEQEGS
210 220 230 240 250
VNFKFGVLFA KDGQLTDDEM FSNEIGSEPF QKFLNLLGDT ITLKGWTGYR
260 270 280 290 300
GGLDTKNDTT GIHSVYTVYQ GHEIMFHVST MLPYSKENKQ QVERKRHIGN
310 320 330 340 350
DIVTIVFQEG EESSPAFKPS MIRSHFTHIF ALVRYNQQND NYRLKIFSEE
360 370 380 390 400
SVPLFGPPLP TPPVFTDHQE FRDFLLVKLI NGEKATLETP TFAQKRRRTL
410 420 430 440 450
DMLIRSLHQD LMPDLHKNML NRRSFSDVLP ESPKSARKKE EARQAEFVRI
460 470 480 490 500
GQALKLKSIV RGDAPSSLAA SGICKKEPWE PQCFCSNFPH EAVCADPWGQ
510 520 530 540 550
ALLVSTDAGV LLVDDDLPSV PVFDRTLPVK QMHVLETLDL LVLRADKGKD
560 570 580 590 600
ARLFVFRLSA LQKGLEGKQA GKSRSDCREN KLEKTKGCHL YAINTHHSRE
610 620 630 640 650
LRIVVAIRNK LLLITRKHNK PSGVTSTSLL SPLSESPVEE FQYIREICLS
660 670 680 690 700
DSPMVMTLVD GPAEESDNLI CVAYRHQFDV VNESTGEAFR LHHVEANRVN
710 720 730 740 750
FVAAIDVYED GEAGLLLCYN YSCIYKKVCP FNGGSFLVQP SASDFQFCWN
760 770 780 790 800
QAPYAIVCAF PYLLAFTTDS MEIRLVVNGN LVHTAVVPQL QLVASRSDIY
810 820 830 840 850
FTATAAVNEV SSGGSSKGAS ARNSPQTPPG RDTPVFPSSL GEGEIQSKNL
860 870 880 890 900
YKIPLRNLVG RSIERPLKSP LVSKVITPPT PISVGLAAIP VTHSLSLSRM
910 920 930 940 950
EIKEIASRTR RELLGLSDEG GPKSEGAPKA KSKPRKRLEE SQGGPKPGAV
960 970 980 990 1000
RSSSSDRIPS GSLESASTSE ANPEGHSASS DQDPVADREG SPVSGSSPFQ
1010
LTAFSDEDII DLK
Length:1,013
Mass (Da):112,852
Last modified:December 4, 2007 - v2
Checksum:i1DF777ECF38DC561
GO
Isoform 2 (identifier: Q5VVW2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     797-820: SDIYFTATAAVNEVSSGGSSKGAS → VKFNQKICTRFHLETSWAEASNDL
     821-1013: Missing.

Show »
Length:820
Mass (Da):93,047
Checksum:iE5065CE61A0127D0
GO
Isoform 3 (identifier: Q5VVW2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-210: Missing.
     453-465: ALKLKSIVRGDAP → VGFLLKPFLRDM
     466-1013: Missing.

Note: No experimental confirmation available.

Show »
Length:423
Mass (Da):48,776
Checksum:i3465A220A94F2564
GO
Isoform 4 (identifier: Q5VVW2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-770: Missing.

Note: No experimental confirmation available.

Show »
Length:243
Mass (Da):25,483
Checksum:i3A9E00377A606011
GO
Isoform 5 (identifier: Q5VVW2-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MVVDFCRRFVARSLCIILMKHFCS → MK

Note: No experimental confirmation available.

Show »
Length:991
Mass (Da):110,254
Checksum:i63C30C9ED9DF3C87
GO

Sequence cautioni

The sequence AAH34983.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAB66508.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAH72927.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI41459.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081H → R.1 Publication
Corresponds to variant rs11550746 [ dbSNP | Ensembl ].
VAR_037456
Natural varianti752 – 7521A → S.
Corresponds to variant rs34608132 [ dbSNP | Ensembl ].
VAR_037457

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 770770Missing in isoform 4. 1 PublicationVSP_029745Add
BLAST
Alternative sequencei1 – 2424MVVDF…KHFCS → MK in isoform 5. 1 PublicationVSP_054875Add
BLAST
Alternative sequencei170 – 21041Missing in isoform 3. 1 PublicationVSP_029740Add
BLAST
Alternative sequencei453 – 46513ALKLK…RGDAP → VGFLLKPFLRDM in isoform 3. 1 PublicationVSP_029741Add
BLAST
Alternative sequencei466 – 1013548Missing in isoform 3. 1 PublicationVSP_029742Add
BLAST
Alternative sequencei797 – 82024SDIYF…SKGAS → VKFNQKICTRFHLETSWAEA SNDL in isoform 2. 1 PublicationVSP_029743Add
BLAST
Alternative sequencei821 – 1013193Missing in isoform 2. 1 PublicationVSP_029744Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095679 mRNA. Translation: BAC04605.1.
AK293732 mRNA. Translation: BAG57158.1.
AK296246 mRNA. Translation: BAH12292.1.
AL834149 mRNA. Translation: CAD38860.1.
AL445222, AL450263 Genomic DNA. Translation: CAH72927.1. Different initiation.
AL450263, AL445222 Genomic DNA. Translation: CAI41459.1. Different initiation.
CH471090 Genomic DNA. Translation: EAW87656.1.
BC034983 mRNA. Translation: AAH34983.1. Different initiation.
AL136573 mRNA. Translation: CAB66508.1. Different initiation.
CCDSiCCDS6869.2. [Q5VVW2-1]
CCDS69663.1. [Q5VVW2-5]
RefSeqiNP_001273708.1. NM_001286779.1. [Q5VVW2-5]
NP_115669.3. NM_032293.4. [Q5VVW2-1]
UniGeneiHs.29304.

Genome annotation databases

EnsembliENST00000373386; ENSP00000362484; ENSG00000136895.
ENST00000373387; ENSP00000362485; ENSG00000136895. [Q5VVW2-1]
ENST00000435213; ENSP00000396205; ENSG00000136895. [Q5VVW2-5]
GeneIDi84253.
KEGGihsa:84253.
UCSCiuc010mxi.3. human. [Q5VVW2-4]
uc011mad.2. human.
uc011mae.2. human. [Q5VVW2-1]

Polymorphism databases

DMDMi162416278.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095679 mRNA. Translation: BAC04605.1 .
AK293732 mRNA. Translation: BAG57158.1 .
AK296246 mRNA. Translation: BAH12292.1 .
AL834149 mRNA. Translation: CAD38860.1 .
AL445222 , AL450263 Genomic DNA. Translation: CAH72927.1 . Different initiation.
AL450263 , AL445222 Genomic DNA. Translation: CAI41459.1 . Different initiation.
CH471090 Genomic DNA. Translation: EAW87656.1 .
BC034983 mRNA. Translation: AAH34983.1 . Different initiation.
AL136573 mRNA. Translation: CAB66508.1 . Different initiation.
CCDSi CCDS6869.2. [Q5VVW2-1 ]
CCDS69663.1. [Q5VVW2-5 ]
RefSeqi NP_001273708.1. NM_001286779.1. [Q5VVW2-5 ]
NP_115669.3. NM_032293.4. [Q5VVW2-1 ]
UniGenei Hs.29304.

3D structure databases

ProteinModelPortali Q5VVW2.
SMRi Q5VVW2. Positions 87-411.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123980. 1 interaction.
STRINGi 9606.ENSP00000362485.

PTM databases

PhosphoSitei Q5VVW2.

Polymorphism databases

DMDMi 162416278.

Proteomic databases

MaxQBi Q5VVW2.
PaxDbi Q5VVW2.
PRIDEi Q5VVW2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373386 ; ENSP00000362484 ; ENSG00000136895 .
ENST00000373387 ; ENSP00000362485 ; ENSG00000136895 . [Q5VVW2-1 ]
ENST00000435213 ; ENSP00000396205 ; ENSG00000136895 . [Q5VVW2-5 ]
GeneIDi 84253.
KEGGi hsa:84253.
UCSCi uc010mxi.3. human. [Q5VVW2-4 ]
uc011mad.2. human.
uc011mae.2. human. [Q5VVW2-1 ]

Organism-specific databases

CTDi 84253.
GeneCardsi GC09P129987.
H-InvDB HIX0008395.
HIX0125608.
HIX0169331.
HGNCi HGNC:25425. GARNL3.
HPAi HPA022433.
HPA028757.
neXtProti NX_Q5VVW2.
PharmGKBi PA134861523.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240885.
GeneTreei ENSGT00760000119182.
HOGENOMi HOG000234088.
HOVERGENi HBG059186.
InParanoidi Q5VVW2.
OMAi IHSVYTV.
OrthoDBi EOG7S4X67.
PhylomeDBi Q5VVW2.
TreeFami TF318626.

Miscellaneous databases

ChiTaRSi GARNL3. human.
GenomeRNAii 84253.
NextBioi 35479303.
PROi Q5VVW2.

Gene expression databases

Bgeei Q5VVW2.
CleanExi HS_GARNL3.
ExpressionAtlasi Q5VVW2. baseline and differential.
Genevestigatori Q5VVW2.

Family and domain databases

InterProi IPR001180. Citron.
IPR000331. Rap_GAP_dom.
[Graphical view ]
Pfami PF00780. CNH. 1 hit.
PF02145. Rap_GAP. 1 hit.
[Graphical view ]
PROSITEi PS50219. CNH. 1 hit.
PS50085. RAPGAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 5).
    Tissue: Brain, Cerebellum and Thalamus.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Testis.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [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 1), VARIANT ARG-108.
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-1013 (ISOFORM 2).
    Tissue: Amygdala.

Entry informationi

Entry nameiGARL3_HUMAN
AccessioniPrimary (citable) accession number: Q5VVW2
Secondary accession number(s): B4DEP7
, B7Z3Q6, Q8IYU1, Q8N951, Q8ND89, Q9BQH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: November 26, 2014
This is version 90 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 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3