ARG39_HUMAN
ID ARG39_HUMAN Reviewed; 335 AA.
AC Q8N4T4; Q49AG0; Q6TPQ2; Q96ST6;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Rho guanine nucleotide exchange factor 39;
GN Name=ARHGEF39; Synonyms=C9orf100;
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 [MRNA] (ISOFORM 4).
RC TISSUE=Lymphoblast;
RA Makela H.M.A., Ridanpaa M.;
RT "Novel human oncogene homolog on chromosome 9p13, alternative splicing.";
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [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 MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta, and Testis;
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 [5]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=22327280; DOI=10.3892/mmr.2012.783;
RA Wang H., Li Y., Wang Y., Han Z.G., Cai B.;
RT "C9orf100, a new member of the Dbl-family guanine nucleotide exchange
RT factors, promotes cell proliferation and migration in hepatocellular
RT carcinoma.";
RL Mol. Med. Report. 5:1169-1174(2012).
CC -!- FUNCTION: Promotes cell proliferation. {ECO:0000269|PubMed:22327280}.
CC -!- INTERACTION:
CC Q8N4T4; Q13137: CALCOCO2; NbExp=5; IntAct=EBI-745468, EBI-739580;
CC Q8N4T4; Q96CG3: TIFA; NbExp=4; IntAct=EBI-745468, EBI-740711;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22327280}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8N4T4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N4T4-2; Sequence=VSP_026281, VSP_026282;
CC Name=3;
CC IsoId=Q8N4T4-3; Sequence=VSP_026283, VSP_026284;
CC Name=4;
CC IsoId=Q8N4T4-4; Sequence=VSP_026285, VSP_026286;
CC -!- TISSUE SPECIFICITY: Strongly expressed in hepatocellular carcinoma
CC (HCC) compared with their non-cancerous counterparts.
CC {ECO:0000269|PubMed:22327280}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAR01010.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAR01011.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY390225; AAR01010.1; ALT_INIT; mRNA.
DR EMBL; AY390226; AAR01011.1; ALT_INIT; mRNA.
DR EMBL; AL357874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033666; AAH33666.1; -; mRNA.
DR EMBL; BC038673; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK027548; BAB55192.1; -; mRNA.
DR CCDS; CCDS6584.2; -. [Q8N4T4-1]
DR RefSeq; NP_116207.2; NM_032818.2. [Q8N4T4-1]
DR AlphaFoldDB; Q8N4T4; -.
DR SMR; Q8N4T4; -.
DR BioGRID; 124343; 55.
DR IntAct; Q8N4T4; 22.
DR STRING; 9606.ENSP00000367638; -.
DR iPTMnet; Q8N4T4; -.
DR PhosphoSitePlus; Q8N4T4; -.
DR BioMuta; ARHGEF39; -.
DR DMDM; 74759886; -.
DR EPD; Q8N4T4; -.
DR jPOST; Q8N4T4; -.
DR MassIVE; Q8N4T4; -.
DR MaxQB; Q8N4T4; -.
DR PaxDb; Q8N4T4; -.
DR PeptideAtlas; Q8N4T4; -.
DR PRIDE; Q8N4T4; -.
DR ProteomicsDB; 71971; -. [Q8N4T4-1]
DR ProteomicsDB; 71972; -. [Q8N4T4-2]
DR ProteomicsDB; 71973; -. [Q8N4T4-3]
DR ProteomicsDB; 71974; -. [Q8N4T4-4]
DR Antibodypedia; 25913; 88 antibodies from 18 providers.
DR DNASU; 84904; -.
DR Ensembl; ENST00000378387.4; ENSP00000367638.3; ENSG00000137135.18. [Q8N4T4-1]
DR Ensembl; ENST00000475323.5; ENSP00000436519.1; ENSG00000137135.18. [Q8N4T4-3]
DR Ensembl; ENST00000490638.5; ENSP00000436756.1; ENSG00000137135.18. [Q8N4T4-2]
DR GeneID; 84904; -.
DR KEGG; hsa:84904; -.
DR MANE-Select; ENST00000378387.4; ENSP00000367638.3; NM_032818.3; NP_116207.2.
DR UCSC; uc003zxl.4; human. [Q8N4T4-1]
DR CTD; 84904; -.
DR DisGeNET; 84904; -.
DR GeneCards; ARHGEF39; -.
DR HGNC; HGNC:25909; ARHGEF39.
DR HPA; ENSG00000137135; Low tissue specificity.
DR neXtProt; NX_Q8N4T4; -.
DR OpenTargets; ENSG00000137135; -.
DR PharmGKB; PA134939297; -.
DR VEuPathDB; HostDB:ENSG00000137135; -.
DR eggNOG; ENOG502QTR5; Eukaryota.
DR GeneTree; ENSGT00440000033863; -.
DR HOGENOM; CLU_1453899_0_0_1; -.
DR InParanoid; Q8N4T4; -.
DR OMA; LLMCTDQ; -.
DR OrthoDB; 711970at2759; -.
DR PhylomeDB; Q8N4T4; -.
DR TreeFam; TF350447; -.
DR PathwayCommons; Q8N4T4; -.
DR Reactome; R-HSA-193648; NRAGE signals death through JNK.
DR Reactome; R-HSA-416482; G alpha (12/13) signalling events.
DR Reactome; R-HSA-9013149; RAC1 GTPase cycle.
DR SignaLink; Q8N4T4; -.
DR BioGRID-ORCS; 84904; 10 hits in 1078 CRISPR screens.
DR ChiTaRS; ARHGEF39; human.
DR GenomeRNAi; 84904; -.
DR Pharos; Q8N4T4; Tdark.
DR PRO; PR:Q8N4T4; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8N4T4; protein.
DR Bgee; ENSG00000137135; Expressed in tibial artery and 94 other tissues.
DR Genevisible; Q8N4T4; HS.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW.
DR GO; GO:0030335; P:positive regulation of cell migration; IDA:UniProtKB.
DR Gene3D; 1.20.900.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR042987; ARHGEF39.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR PANTHER; PTHR47056; PTHR47056; 1.
DR Pfam; PF00621; RhoGEF; 1.
DR SMART; SM00233; PH; 1.
DR SMART; SM00325; RhoGEF; 1.
DR SUPFAM; SSF48065; SSF48065; 1.
DR PROSITE; PS50010; DH_2; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Guanine-nucleotide releasing factor;
KW Membrane; Reference proteome.
FT CHAIN 1..335
FT /note="Rho guanine nucleotide exchange factor 39"
FT /id="PRO_0000291864"
FT DOMAIN 22..197
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 227..331
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT VAR_SEQ 1..36
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026281"
FT VAR_SEQ 37..46
FT /note="YQEQLGLVAT -> MLGVCQTLKQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026282"
FT VAR_SEQ 182..186
FT /note="RAARL -> PVLPS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026283"
FT VAR_SEQ 187..335
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026284"
FT VAR_SEQ 301..305
FT /note="SLSFP -> TVLPS (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026285"
FT VAR_SEQ 306..335
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026286"
FT VARIANT 5
FT /note="C -> F (in dbSNP:rs45567235)"
FT /id="VAR_061801"
FT VARIANT 306
FT /note="H -> R (in dbSNP:rs2297879)"
FT /id="VAR_032876"
FT CONFLICT 139
FT /note="E -> G (in Ref. 2; BAB55192)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 335 AA; 38295 MW; 3D8C8D8068AE651E CRC64;
MELSCPGSRC PVQEQRARWE RKRACTAREL LETERRYQEQ LGLVATYFLG ILKAKGTLRP
PERQALFGSW ELIYGASQEL LPYLEGGCWG QGLEGFCRHL ELYNQFAANS ERSQTTLQEQ
LKKNKGFRRF VRLQEGRPEF GGLQLQDLLP LPLQRLQQYE NLVVALAENT GPNSPDHQQL
TRAARLISET AQRVHTIGQK QKNDQHLRRV QALLSGRQAK GLTSGRWFLR QGWLLVVPPH
GEPRPRMFFL FTDVLLMAKP RPPLHLLRSG TFACKALYPM AQCHLSRVFG HSGGPCGGLL
SLSFPHEKLL LMSTDQEELS RWYHSLTWAI SSQKN
