Q5VVW2 (GARL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GTPase-activating Rap/Ran-GAP domain-like protein 3

Gene names

Name:

GARNL3

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	1013 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Belongs to the GARNL3 family. Contains 1 CNH domain. Contains 1 Rap-GAP domain.
Caution	It is uncertain whether Met-1 or Met-19 is the initiator.
Sequence caution	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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	GTPase activation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of GTPase activity Inferred from electronic annotation. Source: GOC regulation of small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Molecular_function	GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW small GTPase regulator activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5VVW2-1)

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 2 (identifier: Q5VVW2-2)

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

Isoform 3 (identifier: Q5VVW2-3)

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.

Isoform 4 (identifier: Q5VVW2-4)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1013	1013	GTPase-activating Rap/Ran-GAP domain-like protein 3		PRO_0000312215
Regions
	Domain	191 – 407	217	Rap-GAP
	Domain	489 – 800	312	CNH
Natural variations
	Alternative sequence	1 – 770	770	Missing in isoform 4.		VSP_029745
	Alternative sequence	170 – 210	41	Missing in isoform 3.		VSP_029740
	Alternative sequence	453 – 465	13	ALKLK…RGDAP → VGFLLKPFLRDM in isoform 3.		VSP_029741
	Alternative sequence	466 – 1013	548	Missing in isoform 3.		VSP_029742
	Alternative sequence	797 – 820	24	SDIYF…SKGAS → VKFNQKICTRFHLETSWAEA SNDL in isoform 2.		VSP_029743
	Alternative sequence	821 – 1013	193	Missing in isoform 2.		VSP_029744
	Natural variant	108	1	H → R. Ref.5 Corresponds to variant rs11550746 [ dbSNP | Ensembl ].		VAR_037456
	Natural variant	752	1	A → S. Corresponds to variant rs34608132 [ dbSNP | Ensembl ].		VAR_037457

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 4, 2007. Version 2. Checksum: 1DF777ECF38DC561	FASTA	1,013	112,852
	10 20 30 40 50 60 MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI SSDADGAIQR 70 80 90 100 110 120 AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF KYFLGQVHQN YIGNDAEKSP 130 140 150 160 170 180 FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK ICLPYSPTKT LSVKSILSAM NLDKFEKGPR 190 200 210 220 230 240 EIFHPEIQKD LLVLEEQEGS VNFKFGVLFA KDGQLTDDEM FSNEIGSEPF QKFLNLLGDT 250 260 270 280 290 300 ITLKGWTGYR GGLDTKNDTT GIHSVYTVYQ GHEIMFHVST MLPYSKENKQ QVERKRHIGN 310 320 330 340 350 360 DIVTIVFQEG EESSPAFKPS MIRSHFTHIF ALVRYNQQND NYRLKIFSEE SVPLFGPPLP 370 380 390 400 410 420 TPPVFTDHQE FRDFLLVKLI NGEKATLETP TFAQKRRRTL DMLIRSLHQD LMPDLHKNML 430 440 450 460 470 480 NRRSFSDVLP ESPKSARKKE EARQAEFVRI GQALKLKSIV RGDAPSSLAA SGICKKEPWE 490 500 510 520 530 540 PQCFCSNFPH EAVCADPWGQ ALLVSTDAGV LLVDDDLPSV PVFDRTLPVK QMHVLETLDL 550 560 570 580 590 600 LVLRADKGKD ARLFVFRLSA LQKGLEGKQA GKSRSDCREN KLEKTKGCHL YAINTHHSRE 610 620 630 640 650 660 LRIVVAIRNK LLLITRKHNK PSGVTSTSLL SPLSESPVEE FQYIREICLS DSPMVMTLVD 670 680 690 700 710 720 GPAEESDNLI CVAYRHQFDV VNESTGEAFR LHHVEANRVN FVAAIDVYED GEAGLLLCYN 730 740 750 760 770 780 YSCIYKKVCP FNGGSFLVQP SASDFQFCWN QAPYAIVCAF PYLLAFTTDS MEIRLVVNGN 790 800 810 820 830 840 LVHTAVVPQL QLVASRSDIY FTATAAVNEV SSGGSSKGAS ARNSPQTPPG RDTPVFPSSL 850 860 870 880 890 900 GEGEIQSKNL YKIPLRNLVG RSIERPLKSP LVSKVITPPT PISVGLAAIP VTHSLSLSRM 910 920 930 940 950 960 EIKEIASRTR RELLGLSDEG GPKSEGAPKA KSKPRKRLEE SQGGPKPGAV RSSSSDRIPS 970 980 990 1000 1010 GSLESASTSE ANPEGHSASS DQDPVADREG SPVSGSSPFQ LTAFSDEDII DLK
	Isoform 2 [UniParc]. Checksum: E5065CE61A0127D0	FASTA	820	93,047
	10 20 30 40 50 60 MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI SSDADGAIQR 70 80 90 100 110 120 AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF KYFLGQVHQN YIGNDAEKSP 130 140 150 160 170 180 FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK ICLPYSPTKT LSVKSILSAM NLDKFEKGPR 190 200 210 220 230 240 EIFHPEIQKD LLVLEEQEGS VNFKFGVLFA KDGQLTDDEM FSNEIGSEPF QKFLNLLGDT 250 260 270 280 290 300 ITLKGWTGYR GGLDTKNDTT GIHSVYTVYQ GHEIMFHVST MLPYSKENKQ QVERKRHIGN 310 320 330 340 350 360 DIVTIVFQEG EESSPAFKPS MIRSHFTHIF ALVRYNQQND NYRLKIFSEE SVPLFGPPLP 370 380 390 400 410 420 TPPVFTDHQE FRDFLLVKLI NGEKATLETP TFAQKRRRTL DMLIRSLHQD LMPDLHKNML 430 440 450 460 470 480 NRRSFSDVLP ESPKSARKKE EARQAEFVRI GQALKLKSIV RGDAPSSLAA SGICKKEPWE 490 500 510 520 530 540 PQCFCSNFPH EAVCADPWGQ ALLVSTDAGV LLVDDDLPSV PVFDRTLPVK QMHVLETLDL 550 560 570 580 590 600 LVLRADKGKD ARLFVFRLSA LQKGLEGKQA GKSRSDCREN KLEKTKGCHL YAINTHHSRE 610 620 630 640 650 660 LRIVVAIRNK LLLITRKHNK PSGVTSTSLL SPLSESPVEE FQYIREICLS DSPMVMTLVD 670 680 690 700 710 720 GPAEESDNLI CVAYRHQFDV VNESTGEAFR LHHVEANRVN FVAAIDVYED GEAGLLLCYN 730 740 750 760 770 780 YSCIYKKVCP FNGGSFLVQP SASDFQFCWN QAPYAIVCAF PYLLAFTTDS MEIRLVVNGN 790 800 810 820 LVHTAVVPQL QLVASRVKFN QKICTRFHLE TSWAEASNDL
	Isoform 3 [UniParc]. Checksum: 3465A220A94F2564	FASTA	423	48,776
	10 20 30 40 50 60 MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI SSDADGAIQR 70 80 90 100 110 120 AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF KYFLGQVHQN YIGNDAEKSP 130 140 150 160 170 180 FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK ICLPYSPTKT LSVKSILSAK DGQLTDDEMF 190 200 210 220 230 240 SNEIGSEPFQ KFLNLLGDTI TLKGWTGYRG GLDTKNDTTG IHSVYTVYQG HEIMFHVSTM 250 260 270 280 290 300 LPYSKENKQQ VERKRHIGND IVTIVFQEGE ESSPAFKPSM IRSHFTHIFA LVRYNQQNDN 310 320 330 340 350 360 YRLKIFSEES VPLFGPPLPT PPVFTDHQEF RDFLLVKLIN GEKATLETPT FAQKRRRTLD 370 380 390 400 410 420 MLIRSLHQDL MPDLHKNMLN RRSFSDVLPE SPKSARKKEE ARQAEFVRIG QVGFLLKPFL RDM
	Isoform 4 [UniParc]. Checksum: 3A9E00377A606011	FASTA	243	25,483
	10 20 30 40 50 60 MEIRLVVNGN LVHTAVVPQL QLVASRSDIY FTATAAVNEV SSGGSSKGAS ARNSPQTPPG 70 80 90 100 110 120 RDTPVFPSSL GEGEIQSKNL YKIPLRNLVG RSIERPLKSP LVSKVITPPT PISVGLAAIP 130 140 150 160 170 180 VTHSLSLSRM EIKEIASRTR RELLGLSDEG GPKSEGAPKA KSKPRKRLEE SQGGPKPGAV 190 200 210 220 230 240 RSSSSDRIPS GSLESASTSE ANPEGHSASS DQDPVADREG SPVSGSSPFQ LTAFSDEDII DLK

References

[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 AND 3). Tissue: Brain and Cerebellum.
[2]	"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] (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]	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 1), VARIANT ARG-108. Tissue: Brain.
[6]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-1013 (ISOFORM 2). Tissue: Amygdala.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK095679 mRNA. Translation: BAC04605.1. AK293732 mRNA. Translation: BAG57158.1. 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.
IPI	IPI00644502. IPI00798068. IPI00844473. IPI00925743.
RefSeq	NP_115669.3. NM_032293.4.
UniGene	Hs.29304.
3D structure databases
HSSP	HSSP built from PDB template 1SRQ based on UniProtKB P47736.
ProteinModelPortal	Q5VVW2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000362485.
PTM databases
PhosphoSite	Q5VVW2.
Polymorphism databases
DMDM	162416278.
Proteomic databases
PaxDb	Q5VVW2.
PRIDE	Q5VVW2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000314904; ENSP00000313970; ENSG00000136895. ENST00000373386; ENSP00000362484; ENSG00000136895. ENST00000373387; ENSP00000362485; ENSG00000136895.
GeneID	84253.
KEGG	hsa:84253.
UCSC	uc010mxi.3. human. uc011mae.2. human.
Organism-specific databases
CTD	84253.
GeneCards	GC09P129987.
H-InvDB	HIX0008395. HIX0125608. HIX0169331.
HGNC	HGNC:25425. GARNL3.
HPA	HPA022433. HPA028757.
neXtProt	NX_Q5VVW2.
PharmGKB	PA134861523.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240885.
HOGENOM	HOG000234088.
HOVERGEN	HBG059186.
InParanoid	Q5VVW2.
OMA	MHVLETL.
OrthoDB	EOG4X0MRJ.
Gene expression databases
ArrayExpress	Q5VVW2.
Bgee	Q5VVW2.
CleanEx	HS_GARNL3.
Genevestigator	Q5VVW2.
Family and domain databases
InterPro	IPR001180. Citron. IPR000331. Rap_GAP_dom. [Graphical view]
Pfam	PF00780. CNH. 1 hit. PF02145. Rap_GAP. 1 hit. [Graphical view]
PROSITE	PS50219. CNH. 1 hit. PS50085. RAPGAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84253.
NextBio	73752.

Entry information

Entry name

GARL3_HUMAN

Accession

Primary (citable) accession number: Q5VVW2
Secondary accession number(s): B4DEP7 , Q8IYU1, Q8N951, Q8ND89, Q9BQH6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	December 4, 2007
Last modified:	May 1, 2013
This is version 74 of the entry and version 2 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.