PKHG7_HUMAN
ID PKHG7_HUMAN Reviewed; 691 AA.
AC Q6ZR37; A0A1X7SBZ7; B2RNR7; F5H4P0; Q32Q52;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-SEP-2021, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Pleckstrin homology domain-containing family G member 7 {ECO:0000305};
DE Short=PH domain-containing family G member 7;
GN Name=PLEKHG7 {ECO:0000312|HGNC:HGNC:33829};
GN Synonyms=C12orf74 {ECO:0000312|HGNC:HGNC:33829};
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 GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 276-691 (ISOFORM 1).
RC TISSUE=Lung;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 252-691 (ISOFORM 1).
RC TISSUE=Trachea;
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).
CC -!- INTERACTION:
CC Q6ZR37; P21549: AGXT; NbExp=3; IntAct=EBI-12891828, EBI-727098;
CC Q6ZR37; Q92870-2: APBB2; NbExp=3; IntAct=EBI-12891828, EBI-21535880;
CC Q6ZR37; P54253: ATXN1; NbExp=6; IntAct=EBI-12891828, EBI-930964;
CC Q6ZR37; P48643: CCT5; NbExp=3; IntAct=EBI-12891828, EBI-355710;
CC Q6ZR37; G5E9A7: DMWD; NbExp=3; IntAct=EBI-12891828, EBI-10976677;
CC Q6ZR37; P22607: FGFR3; NbExp=3; IntAct=EBI-12891828, EBI-348399;
CC Q6ZR37; Q14957: GRIN2C; NbExp=3; IntAct=EBI-12891828, EBI-8285963;
CC Q6ZR37; P28799: GRN; NbExp=3; IntAct=EBI-12891828, EBI-747754;
CC Q6ZR37; P06396: GSN; NbExp=3; IntAct=EBI-12891828, EBI-351506;
CC Q6ZR37; P04792: HSPB1; NbExp=3; IntAct=EBI-12891828, EBI-352682;
CC Q6ZR37; P42858: HTT; NbExp=12; IntAct=EBI-12891828, EBI-466029;
CC Q6ZR37; O60333-2: KIF1B; NbExp=3; IntAct=EBI-12891828, EBI-10975473;
CC Q6ZR37; P35240: NF2; NbExp=3; IntAct=EBI-12891828, EBI-1014472;
CC Q6ZR37; D3DTS7: PMP22; NbExp=3; IntAct=EBI-12891828, EBI-25882629;
CC Q6ZR37; P50897: PPT1; NbExp=3; IntAct=EBI-12891828, EBI-1237011;
CC Q6ZR37; O43741: PRKAB2; NbExp=3; IntAct=EBI-12891828, EBI-1053424;
CC Q6ZR37; O60260-5: PRKN; NbExp=6; IntAct=EBI-12891828, EBI-21251460;
CC Q6ZR37; P51149: RAB7A; NbExp=3; IntAct=EBI-12891828, EBI-1056089;
CC Q6ZR37; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-12891828, EBI-396669;
CC Q6ZR37; P37840: SNCA; NbExp=3; IntAct=EBI-12891828, EBI-985879;
CC Q6ZR37; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-12891828, EBI-5235340;
CC Q6ZR37; O15269-2: SPTLC1; NbExp=3; IntAct=EBI-12891828, EBI-25912901;
CC Q6ZR37; Q86WV8: TSC1; NbExp=3; IntAct=EBI-12891828, EBI-12806590;
CC Q6ZR37; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-12891828, EBI-741480;
CC Q6ZR37; O76024: WFS1; NbExp=3; IntAct=EBI-12891828, EBI-720609;
CC Q6ZR37; Q9Y649; NbExp=3; IntAct=EBI-12891828, EBI-25900580;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZR37-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZR37-2; Sequence=VSP_061135, VSP_061136;
CC Name=3;
CC IsoId=Q6ZR37-3; Sequence=VSP_061133, VSP_061134;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI37087.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC87483.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC016136; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC043363; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC105728; AAI05729.1; -; mRNA.
DR EMBL; BC107813; AAI07814.1; -; mRNA.
DR EMBL; BC137086; AAI37087.1; ALT_INIT; mRNA.
DR EMBL; AK128530; BAC87483.1; ALT_INIT; mRNA.
DR CCDS; CCDS41819.1; -. [Q6ZR37-2]
DR CCDS; CCDS53818.1; -. [Q6ZR37-3]
DR RefSeq; NP_001004330.1; NM_001004330.2.
DR RefSeq; NP_001032760.1; NM_001037671.3. [Q6ZR37-2]
DR RefSeq; NP_001171568.1; NM_001178097.2. [Q6ZR37-3]
DR AlphaFoldDB; Q6ZR37; -.
DR SMR; Q6ZR37; -.
DR BioGRID; 130800; 168.
DR BioGRID; 136300; 25.
DR IntAct; Q6ZR37; 43.
DR STRING; 9606.ENSP00000380933; -.
DR iPTMnet; Q6ZR37; -.
DR PhosphoSitePlus; Q6ZR37; -.
DR BioMuta; C12orf74; -.
DR BioMuta; PLEKHG7; -.
DR DMDM; 74758773; -.
DR jPOST; Q6ZR37; -.
DR PaxDb; Q6ZR37; -.
DR PeptideAtlas; Q6ZR37; -.
DR PRIDE; Q6ZR37; -.
DR ProteomicsDB; 26631; -.
DR ProteomicsDB; 61630; -.
DR Antibodypedia; 66814; 13 antibodies from 8 providers.
DR DNASU; 440107; -.
DR Ensembl; ENST00000344636.6; ENSP00000344961.5; ENSG00000187510.11. [Q6ZR37-1]
DR Ensembl; ENST00000397833.3; ENSP00000380933.3; ENSG00000187510.11. [Q6ZR37-2]
DR Ensembl; ENST00000544406.2; ENSP00000446043.2; ENSG00000187510.11. [Q6ZR37-3]
DR GeneID; 440107; -.
DR KEGG; hsa:440107; -.
DR MANE-Select; ENST00000344636.6; ENSP00000344961.5; NM_001377329.1; NP_001364258.1.
DR UCSC; uc001tcj.3; human. [Q6ZR37-1]
DR CTD; 440107; -.
DR GeneCards; PLEKHG7; -.
DR HGNC; HGNC:33829; PLEKHG7.
DR HPA; ENSG00000187510; Tissue enhanced (cervix, epididymis, fallopian tube).
DR neXtProt; NX_Q6ZR37; -.
DR OpenTargets; ENSG00000187510; -.
DR PharmGKB; PA162399708; -.
DR VEuPathDB; HostDB:ENSG00000187510; -.
DR eggNOG; ENOG502S9PS; Eukaryota.
DR eggNOG; KOG3521; Eukaryota.
DR GeneTree; ENSGT00510000046843; -.
DR HOGENOM; CLU_030833_0_0_1; -.
DR InParanoid; Q6ZR37; -.
DR OMA; WDEVMET; -.
DR OrthoDB; 368523at2759; -.
DR PhylomeDB; Q6ZR37; -.
DR TreeFam; TF316247; -.
DR TreeFam; TF353652; -.
DR PathwayCommons; Q6ZR37; -.
DR SignaLink; Q6ZR37; -.
DR BioGRID-ORCS; 338809; 9 hits in 1027 CRISPR screens.
DR BioGRID-ORCS; 440107; 9 hits in 1058 CRISPR screens.
DR ChiTaRS; PLEKHG7; human.
DR GenomeRNAi; 440107; -.
DR Pharos; Q6ZR37; Tdark.
DR PRO; PR:Q6ZR37; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6ZR37; protein.
DR GO; GO:0110165; C:cellular anatomical entity; IEA:UniProt.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:InterPro.
DR GO; GO:0007266; P:Rho protein signal transduction; IBA:GO_Central.
DR CDD; cd00160; RhoGEF; 1.
DR Gene3D; 1.20.900.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR040181; PKHG5/7.
DR PANTHER; PTHR13217; PTHR13217; 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; Glycoprotein; Reference proteome.
FT CHAIN 1..691
FT /note="Pleckstrin homology domain-containing family G
FT member 7"
FT /id="PRO_0000317287"
FT DOMAIN 313..488
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 535..668
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..48
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 109..140
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 24..48
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 395
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 170..173
FT /note="GEEL -> VTQL (in isoform 3)"
FT /id="VSP_061133"
FT VAR_SEQ 174..691
FT /note="Missing (in isoform 3)"
FT /id="VSP_061134"
FT VAR_SEQ 178..190
FT /note="FYEHRRSSVVLNL -> CVCIYFLRCYDIC (in isoform 2)"
FT /id="VSP_061135"
FT VAR_SEQ 191..691
FT /note="Missing (in isoform 2)"
FT /id="VSP_061136"
FT VARIANT 411
FT /note="D -> G (in dbSNP:rs17790310)"
FT /id="VAR_050513"
FT VARIANT 524
FT /note="M -> T (in dbSNP:rs924326)"
FT /id="VAR_050514"
SQ SEQUENCE 691 AA; 79526 MW; 384CE88882B6E6D2 CRC64;
MEKTESFCPE VPPQDCGASP RPSLRSLPKN QGSLLQFDRQ APGRISTSPT LRRLRTRGCG
TRQDAWQVTT WGSWGAPVGF PCYLSKSLPG SPKDSSHLLS PLRLHSRLTS EPERALNAAD
SLEPQTRPTD KYLPPELQPV NEGSLHQASL RQQEGHFLPS PTLRHPSPQG EELHPSRFYE
HRRSSVVLNL PGLEVFPGDL LVSDGAADYL CHPLLLLNSE SKKPRWPFSK RGVGKDKHKH
ISDLENCLSS VKITSFRGYD FYGLKDKTWD EVLETHHKLP TDQLDLKKQQ EAVWELFTSE
CTYFLDHLLV LKMIFMNTLR YLQTHEYLLD VDLWRLFANL EELTQTSLGF VNSLFGIIKD
YVDASEISSS LDFISVLTKY FRGSLCQSHQ TYCLNYSAAI FYLESLRQRD DFGIYLKWCE
QNEQCRRLHV PELLVAPLQR LTRYPLLLKN IWKRSMDSAE KIMIYSIKEK VEKSIRDLEG
KVKWLDNFQK FRYLQEIIVW PPLWDRDKRF FIPECLKHIF KEHMAENILS PTSRHLLYEG
KLTLAESTRF LDVYLFLFND FLLVTKTKCN KKKLGGSDPG LMCPSLTPEL QAVIKEGGSC
TVLDQPIPLD RLVVKSIEPL HVSVFGLRNA FLIQHENRYR QCIAAFLLQA QTENIKKTWM
AQITTAISCF TKSQETKKIS LFTLPAESSE I
