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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 3
PRO_0000312215Add
BLAST

Proteomic databases

MaxQBiQ5VVW2.
PaxDbiQ5VVW2.
PRIDEiQ5VVW2.

PTM databases

PhosphoSiteiQ5VVW2.

Expressioni

Gene expression databases

ArrayExpressiQ5VVW2.
BgeeiQ5VVW2.
CleanExiHS_GARNL3.
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini191 – 407217Rap-GAP
Add
BLAST
Domaini489 – 800312CNH
Add
BLAST

Sequence similaritiesi

Belongs to the GARNL3 family.
Contains 1 CNH domain.
Contains 1 Rap-GAP domain.

Phylogenomic databases

eggNOGiNOG240885.
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

MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI     50
SSDADGAIQR AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF 100
KYFLGQVHQN YIGNDAEKSP FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK 150
ICLPYSPTKT LSVKSILSAM NLDKFEKGPR EIFHPEIQKD LLVLEEQEGS 200
VNFKFGVLFA KDGQLTDDEM FSNEIGSEPF QKFLNLLGDT ITLKGWTGYR 250
GGLDTKNDTT GIHSVYTVYQ GHEIMFHVST MLPYSKENKQ QVERKRHIGN 300
DIVTIVFQEG EESSPAFKPS MIRSHFTHIF ALVRYNQQND NYRLKIFSEE 350
SVPLFGPPLP TPPVFTDHQE FRDFLLVKLI NGEKATLETP TFAQKRRRTL 400
DMLIRSLHQD LMPDLHKNML NRRSFSDVLP ESPKSARKKE EARQAEFVRI 450
GQALKLKSIV RGDAPSSLAA SGICKKEPWE PQCFCSNFPH EAVCADPWGQ 500
ALLVSTDAGV LLVDDDLPSV PVFDRTLPVK QMHVLETLDL LVLRADKGKD 550
ARLFVFRLSA LQKGLEGKQA GKSRSDCREN KLEKTKGCHL YAINTHHSRE 600
LRIVVAIRNK LLLITRKHNK PSGVTSTSLL SPLSESPVEE FQYIREICLS 650
DSPMVMTLVD GPAEESDNLI CVAYRHQFDV VNESTGEAFR LHHVEANRVN 700
FVAAIDVYED GEAGLLLCYN YSCIYKKVCP FNGGSFLVQP SASDFQFCWN 750
QAPYAIVCAF PYLLAFTTDS MEIRLVVNGN LVHTAVVPQL QLVASRSDIY 800
FTATAAVNEV SSGGSSKGAS ARNSPQTPPG RDTPVFPSSL GEGEIQSKNL 850
YKIPLRNLVG RSIERPLKSP LVSKVITPPT PISVGLAAIP VTHSLSLSRM 900
EIKEIASRTR RELLGLSDEG GPKSEGAPKA KSKPRKRLEE SQGGPKPGAV 950
RSSSSDRIPS GSLESASTSE ANPEGHSASS DQDPVADREG SPVSGSSPFQ 1000
LTAFSDEDII DLK 1013
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.
The sequence CAB66508.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAH72927.1 differs from that shown. Reason: Erroneous initiation.
The sequence CAI41459.1 differs from that shown. Reason: Erroneous initiation.

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.
VSP_029745Add
BLAST
Alternative sequencei1 – 2424MVVDF…KHFCS → MK in isoform 5.
VSP_054875Add
BLAST
Alternative sequencei170 – 21041Missing in isoform 3.
VSP_029740Add
BLAST
Alternative sequencei453 – 46513ALKLK…RGDAP → VGFLLKPFLRDM in isoform 3.
VSP_029741Add
BLAST
Alternative sequencei466 – 1013548Missing in isoform 3.
VSP_029742Add
BLAST
Alternative sequencei797 – 82024SDIYF…SKGAS → VKFNQKICTRFHLETSWAEA SNDL in isoform 2.
VSP_029743Add
BLAST
Alternative sequencei821 – 1013193Missing in isoform 2.
VSP_029744Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000314904; ENSP00000313970; ENSG00000136895. [Q5VVW2-2]
ENST00000373386; ENSP00000362484; ENSG00000136895.
ENST00000373387; ENSP00000362485; ENSG00000136895. [Q5VVW2-1]
ENST00000435213; ENSP00000396205; ENSG00000136895.
GeneIDi84253.
KEGGihsa:84253.
UCSCiuc010mxi.3. human. [Q5VVW2-4]
uc011mae.2. human. [Q5VVW2-1]

Polymorphism databases

DMDMi162416278.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ENST00000314904 ; ENSP00000313970 ; ENSG00000136895 . [Q5VVW2-2 ]
ENST00000373386 ; ENSP00000362484 ; ENSG00000136895 .
ENST00000373387 ; ENSP00000362485 ; ENSG00000136895 . [Q5VVW2-1 ]
ENST00000435213 ; ENSP00000396205 ; ENSG00000136895 .
GeneIDi 84253.
KEGGi hsa:84253.
UCSCi uc010mxi.3. human. [Q5VVW2-4 ]
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.
HOGENOMi HOG000234088.
HOVERGENi HBG059186.
InParanoidi Q5VVW2.
OMAi IHSVYTV.
OrthoDBi EOG7S4X67.
PhylomeDBi Q5VVW2.
TreeFami TF318626.

Miscellaneous databases

GenomeRNAii 84253.
NextBioi 35479303.
PROi Q5VVW2.

Gene expression databases

ArrayExpressi Q5VVW2.
Bgeei Q5VVW2.
CleanExi HS_GARNL3.
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: September 3, 2014
This is version 87 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

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