GARL3_HUMAN
ID GARL3_HUMAN Reviewed; 1013 AA.
AC Q5VVW2; B4DEP7; B7Z3Q6; Q8IYU1; Q8N951; Q8ND89; Q9BQH6;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=GTPase-activating Rap/Ran-GAP domain-like protein 3;
GN Name=GARNL3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 5).
RC TISSUE=Brain, Cerebellum, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ARG-108.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-1013 (ISOFORM 2).
RC TISSUE=Amygdala;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q5VVW2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VVW2-2; Sequence=VSP_029743, VSP_029744;
CC Name=3;
CC IsoId=Q5VVW2-3; Sequence=VSP_029740, VSP_029741, VSP_029742;
CC Name=4;
CC IsoId=Q5VVW2-4; Sequence=VSP_029745;
CC Name=5;
CC IsoId=Q5VVW2-5; Sequence=VSP_054875;
CC -!- SIMILARITY: Belongs to the GARNL3 family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-19 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH34983.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAB66508.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK095679; BAC04605.1; -; mRNA.
DR EMBL; AK293732; BAG57158.1; -; mRNA.
DR EMBL; AK296246; BAH12292.1; -; mRNA.
DR EMBL; AL834149; CAD38860.1; -; mRNA.
DR EMBL; AL445222; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL450263; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87656.1; -; Genomic_DNA.
DR EMBL; BC034983; AAH34983.1; ALT_INIT; mRNA.
DR EMBL; AL136573; CAB66508.1; ALT_INIT; mRNA.
DR CCDS; CCDS6869.2; -. [Q5VVW2-1]
DR CCDS; CCDS69663.1; -. [Q5VVW2-5]
DR RefSeq; NP_001273708.1; NM_001286779.1. [Q5VVW2-5]
DR RefSeq; NP_115669.3; NM_032293.4. [Q5VVW2-1]
DR AlphaFoldDB; Q5VVW2; -.
DR SMR; Q5VVW2; -.
DR BioGRID; 123980; 5.
DR IntAct; Q5VVW2; 1.
DR STRING; 9606.ENSP00000362485; -.
DR iPTMnet; Q5VVW2; -.
DR PhosphoSitePlus; Q5VVW2; -.
DR BioMuta; GARNL3; -.
DR DMDM; 162416278; -.
DR EPD; Q5VVW2; -.
DR MassIVE; Q5VVW2; -.
DR MaxQB; Q5VVW2; -.
DR PaxDb; Q5VVW2; -.
DR PeptideAtlas; Q5VVW2; -.
DR PRIDE; Q5VVW2; -.
DR ProteomicsDB; 6539; -.
DR ProteomicsDB; 65495; -. [Q5VVW2-1]
DR ProteomicsDB; 65496; -. [Q5VVW2-2]
DR ProteomicsDB; 65497; -. [Q5VVW2-3]
DR ProteomicsDB; 65498; -. [Q5VVW2-4]
DR Antibodypedia; 16601; 49 antibodies from 10 providers.
DR DNASU; 84253; -.
DR Ensembl; ENST00000373387.9; ENSP00000362485.4; ENSG00000136895.19. [Q5VVW2-1]
DR Ensembl; ENST00000435213.6; ENSP00000396205.2; ENSG00000136895.19. [Q5VVW2-5]
DR GeneID; 84253; -.
DR KEGG; hsa:84253; -.
DR MANE-Select; ENST00000373387.9; ENSP00000362485.4; NM_032293.5; NP_115669.3.
DR UCSC; uc011mad.3; human. [Q5VVW2-1]
DR CTD; 84253; -.
DR DisGeNET; 84253; -.
DR GeneCards; GARNL3; -.
DR HGNC; HGNC:25425; GARNL3.
DR HPA; ENSG00000136895; Low tissue specificity.
DR neXtProt; NX_Q5VVW2; -.
DR OpenTargets; ENSG00000136895; -.
DR PharmGKB; PA134861523; -.
DR VEuPathDB; HostDB:ENSG00000136895; -.
DR eggNOG; KOG3686; Eukaryota.
DR GeneTree; ENSGT00940000159362; -.
DR HOGENOM; CLU_008685_1_0_1; -.
DR InParanoid; Q5VVW2; -.
DR OMA; FEGYSER; -.
DR OrthoDB; 845465at2759; -.
DR PhylomeDB; Q5VVW2; -.
DR TreeFam; TF318626; -.
DR PathwayCommons; Q5VVW2; -.
DR SignaLink; Q5VVW2; -.
DR BioGRID-ORCS; 84253; 16 hits in 1073 CRISPR screens.
DR ChiTaRS; GARNL3; human.
DR GenomeRNAi; 84253; -.
DR Pharos; Q5VVW2; Tdark.
DR PRO; PR:Q5VVW2; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VVW2; protein.
DR Bgee; ENSG00000136895; Expressed in cerebellar hemisphere and 139 other tissues.
DR ExpressionAtlas; Q5VVW2; baseline and differential.
DR Genevisible; Q5VVW2; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; IEA:InterPro.
DR Gene3D; 3.40.50.11210; -; 1.
DR InterPro; IPR001180; CNH_dom.
DR InterPro; IPR035974; Rap/Ran-GAP_sf.
DR InterPro; IPR000331; Rap/Ran_GAP_dom.
DR Pfam; PF00780; CNH; 1.
DR Pfam; PF02145; Rap_GAP; 1.
DR SMART; SM00036; CNH; 1.
DR SUPFAM; SSF111347; SSF111347; 1.
DR PROSITE; PS50219; CNH; 1.
DR PROSITE; PS50085; RAPGAP; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; GTPase activation; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..1013
FT /note="GTPase-activating Rap/Ran-GAP domain-like protein 3"
FT /id="PRO_0000312215"
FT DOMAIN 191..407
FT /note="Rap-GAP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00165"
FT DOMAIN 489..800
FT /note="CNH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00795"
FT REGION 810..842
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 913..1013
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 810..829
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 913..942
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 947..979
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 45
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3V0G7"
FT MOD_RES 426
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3V0G7"
FT MOD_RES 432
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3V0G7"
FT MOD_RES 827
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q3V0G7"
FT VAR_SEQ 1..770
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_029745"
FT VAR_SEQ 1..24
FT /note="MVVDFCRRFVARSLCIILMKHFCS -> MK (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054875"
FT VAR_SEQ 170..210
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029740"
FT VAR_SEQ 453..465
FT /note="ALKLKSIVRGDAP -> VGFLLKPFLRDM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029741"
FT VAR_SEQ 466..1013
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029742"
FT VAR_SEQ 797..820
FT /note="SDIYFTATAAVNEVSSGGSSKGAS -> VKFNQKICTRFHLETSWAEASNDL
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_029743"
FT VAR_SEQ 821..1013
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_029744"
FT VARIANT 108
FT /note="H -> R (in dbSNP:rs11550746)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037456"
FT VARIANT 752
FT /note="A -> S (in dbSNP:rs34608132)"
FT /id="VAR_037457"
SQ SEQUENCE 1013 AA; 112852 MW; 1DF777ECF38DC561 CRC64;
MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI SSDADGAIQR
AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF KYFLGQVHQN YIGNDAEKSP
FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK ICLPYSPTKT LSVKSILSAM NLDKFEKGPR
EIFHPEIQKD LLVLEEQEGS VNFKFGVLFA KDGQLTDDEM FSNEIGSEPF QKFLNLLGDT
ITLKGWTGYR GGLDTKNDTT GIHSVYTVYQ GHEIMFHVST MLPYSKENKQ QVERKRHIGN
DIVTIVFQEG EESSPAFKPS MIRSHFTHIF ALVRYNQQND NYRLKIFSEE SVPLFGPPLP
TPPVFTDHQE FRDFLLVKLI NGEKATLETP TFAQKRRRTL DMLIRSLHQD LMPDLHKNML
NRRSFSDVLP ESPKSARKKE EARQAEFVRI GQALKLKSIV RGDAPSSLAA SGICKKEPWE
PQCFCSNFPH EAVCADPWGQ ALLVSTDAGV LLVDDDLPSV PVFDRTLPVK QMHVLETLDL
LVLRADKGKD ARLFVFRLSA LQKGLEGKQA GKSRSDCREN KLEKTKGCHL YAINTHHSRE
LRIVVAIRNK LLLITRKHNK PSGVTSTSLL SPLSESPVEE FQYIREICLS DSPMVMTLVD
GPAEESDNLI CVAYRHQFDV VNESTGEAFR LHHVEANRVN FVAAIDVYED GEAGLLLCYN
YSCIYKKVCP FNGGSFLVQP SASDFQFCWN QAPYAIVCAF PYLLAFTTDS MEIRLVVNGN
LVHTAVVPQL QLVASRSDIY FTATAAVNEV SSGGSSKGAS ARNSPQTPPG RDTPVFPSSL
GEGEIQSKNL YKIPLRNLVG RSIERPLKSP LVSKVITPPT PISVGLAAIP VTHSLSLSRM
EIKEIASRTR RELLGLSDEG GPKSEGAPKA KSKPRKRLEE SQGGPKPGAV RSSSSDRIPS
GSLESASTSE ANPEGHSASS DQDPVADREG SPVSGSSPFQ LTAFSDEDII DLK
