PKHG4_HUMAN
ID PKHG4_HUMAN Reviewed; 1191 AA.
AC Q58EX7; Q4G0J8; Q4H485; Q56A69; Q9H7K4; Q9UFW0;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 26-APR-2005, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Puratrophin-1;
DE AltName: Full=Pleckstrin homology domain-containing family G member 4;
DE Short=PH domain-containing family G member 4;
DE AltName: Full=Purkinje cell atrophy-associated protein 1;
GN Name=PLEKHG4; Synonyms=PRTPHN1;
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] (ISOFORMS 1 AND 3), AND TISSUE SPECIFICITY.
RC TISSUE=Cerebellum;
RX PubMed=16001362; DOI=10.1086/432518;
RA Ishikawa K., Toru S., Tsunemi T., Li M., Kobayashi K., Yokota T., Amino T.,
RA Owada K., Fujigasaki H., Sakamoto M., Tomimitsu H., Takashima M.,
RA Kumagai J., Noguchi Y., Kawashima Y., Ohkoshi N., Ishida G., Gomyoda M.,
RA Yoshida M., Hashizume Y., Saito Y., Murayama S., Yamanouchi H.,
RA Mizutani T., Kondo I., Toda T., Mizusawa H.;
RT "An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is
RT associated with a single-nucleotide substitution in the 5' untranslated
RT region of the gene encoding a protein with spectrin repeat and Rho guanine-
RT nucleotide exchange-factor domains.";
RL Am. J. Hum. Genet. 77:280-296(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Spleen;
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 MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, Eye, and Skin;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 278-1191 (ISOFORMS 1/2).
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 [5]
RP LACK OF INVOLVEMENT IN SPINOCEREBELLAR ATAXIA, AND REDEFINITION OF THE
RP SPINOCEREBELLAR ATAXIA LOCUS ON CHROMOSOME 16.
RX PubMed=17611710; DOI=10.1007/s10038-007-0154-1;
RA Amino T., Ishikawa K., Toru S., Ishiguro T., Sato N., Tsunemi T.,
RA Murata M., Kobayashi K., Inazawa J., Toda T., Mizusawa H.;
RT "Redefining the disease locus of 16q22.1-linked autosomal dominant
RT cerebellar ataxia.";
RL J. Hum. Genet. 52:643-649(2007).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-64, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-64, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Possible role in intracellular signaling and cytoskeleton
CC dynamics at the Golgi.
CC -!- INTERACTION:
CC Q58EX7; Q9NQ94: A1CF; NbExp=3; IntAct=EBI-949255, EBI-2809489;
CC Q58EX7; Q12774: ARHGEF5; NbExp=3; IntAct=EBI-949255, EBI-602199;
CC Q58EX7; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-949255, EBI-742909;
CC Q58EX7; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-949255, EBI-745073;
CC Q58EX7; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-949255, EBI-744556;
CC Q58EX7; P42773: CDKN2C; NbExp=3; IntAct=EBI-949255, EBI-711290;
CC Q58EX7; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-949255, EBI-741528;
CC Q58EX7; Q9BTE7: DCUN1D5; NbExp=3; IntAct=EBI-949255, EBI-3924013;
CC Q58EX7; Q6W0C5: DPPA3; NbExp=3; IntAct=EBI-949255, EBI-12082590;
CC Q58EX7; Q86UW9: DTX2; NbExp=3; IntAct=EBI-949255, EBI-740376;
CC Q58EX7; Q9UII6: DUSP13; NbExp=3; IntAct=EBI-949255, EBI-749800;
CC Q58EX7; Q3B820: FAM161A; NbExp=3; IntAct=EBI-949255, EBI-719941;
CC Q58EX7; Q7Z6J4: FGD2; NbExp=3; IntAct=EBI-949255, EBI-1057190;
CC Q58EX7; P23771-2: GATA3; NbExp=3; IntAct=EBI-949255, EBI-6672518;
CC Q58EX7; O75603: GCM2; NbExp=3; IntAct=EBI-949255, EBI-10188645;
CC Q58EX7; O43708: GSTZ1; NbExp=3; IntAct=EBI-949255, EBI-748043;
CC Q58EX7; P08631-2: HCK; NbExp=3; IntAct=EBI-949255, EBI-9834454;
CC Q58EX7; P17482: HOXB9; NbExp=3; IntAct=EBI-949255, EBI-745290;
CC Q58EX7; P31273: HOXC8; NbExp=3; IntAct=EBI-949255, EBI-1752118;
CC Q58EX7; P12035: KRT3; NbExp=3; IntAct=EBI-949255, EBI-2430095;
CC Q58EX7; O95678: KRT75; NbExp=3; IntAct=EBI-949255, EBI-2949715;
CC Q58EX7; Q96EH3: MALSU1; NbExp=3; IntAct=EBI-949255, EBI-2339737;
CC Q58EX7; P43243: MATR3; NbExp=3; IntAct=EBI-949255, EBI-352602;
CC Q58EX7; Q99750: MDFI; NbExp=3; IntAct=EBI-949255, EBI-724076;
CC Q58EX7; P53582: METAP1; NbExp=3; IntAct=EBI-949255, EBI-1051435;
CC Q58EX7; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-949255, EBI-14086479;
CC Q58EX7; Q8IXL7-2: MSRB3; NbExp=3; IntAct=EBI-949255, EBI-10699187;
CC Q58EX7; Q13330: MTA1; NbExp=3; IntAct=EBI-949255, EBI-714236;
CC Q58EX7; Q9P2K5-2: MYEF2; NbExp=3; IntAct=EBI-949255, EBI-10318831;
CC Q58EX7; Q9NP98: MYOZ1; NbExp=3; IntAct=EBI-949255, EBI-744402;
CC Q58EX7; Q8N6N6: NATD1; NbExp=3; IntAct=EBI-949255, EBI-8656665;
CC Q58EX7; P32242: OTX1; NbExp=3; IntAct=EBI-949255, EBI-740446;
CC Q58EX7; P16118: PFKFB1; NbExp=3; IntAct=EBI-949255, EBI-709807;
CC Q58EX7; Q99959-2: PKP2; NbExp=3; IntAct=EBI-949255, EBI-10987518;
CC Q58EX7; Q7Z5V6-2: PPP1R32; NbExp=3; IntAct=EBI-949255, EBI-12000762;
CC Q58EX7; Q99633: PRPF18; NbExp=3; IntAct=EBI-949255, EBI-2798416;
CC Q58EX7; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-949255, EBI-1567797;
CC Q58EX7; P20618: PSMB1; NbExp=3; IntAct=EBI-949255, EBI-372273;
CC Q58EX7; Q13671: RIN1; NbExp=3; IntAct=EBI-949255, EBI-366017;
CC Q58EX7; Q8IYX7: SAXO1; NbExp=3; IntAct=EBI-949255, EBI-3957636;
CC Q58EX7; Q9C0A6-3: SETD5; NbExp=3; IntAct=EBI-949255, EBI-12233047;
CC Q58EX7; Q9H788: SH2D4A; NbExp=3; IntAct=EBI-949255, EBI-747035;
CC Q58EX7; Q6ZSJ9: SHISA6; NbExp=3; IntAct=EBI-949255, EBI-12037847;
CC Q58EX7; Q15475: SIX1; NbExp=3; IntAct=EBI-949255, EBI-743675;
CC Q58EX7; P49901: SMCP; NbExp=3; IntAct=EBI-949255, EBI-750494;
CC Q58EX7; Q9H0W8: SMG9; NbExp=3; IntAct=EBI-949255, EBI-2872322;
CC Q58EX7; Q9NU19: TBC1D22B; NbExp=3; IntAct=EBI-949255, EBI-8787464;
CC Q58EX7; O95935: TBX18; NbExp=3; IntAct=EBI-949255, EBI-12085364;
CC Q58EX7; Q9BXF9: TEKT3; NbExp=3; IntAct=EBI-949255, EBI-8644516;
CC Q58EX7; Q8NEK8: TENT5D; NbExp=3; IntAct=EBI-949255, EBI-744726;
CC Q58EX7; Q7Z6R9: TFAP2D; NbExp=3; IntAct=EBI-949255, EBI-11952651;
CC Q58EX7; Q92734: TFG; NbExp=3; IntAct=EBI-949255, EBI-357061;
CC Q58EX7; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-949255, EBI-3918381;
CC Q58EX7; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-949255, EBI-9090990;
CC Q58EX7; O75604: USP2; NbExp=3; IntAct=EBI-949255, EBI-743272;
CC Q58EX7; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-949255, EBI-2559305;
CC Q58EX7; Q8WYQ9: ZCCHC14; NbExp=3; IntAct=EBI-949255, EBI-3937908;
CC Q58EX7; Q9UQR1-2: ZNF148; NbExp=3; IntAct=EBI-949255, EBI-11742222;
CC Q58EX7; Q9P2F9: ZNF319; NbExp=3; IntAct=EBI-949255, EBI-11993110;
CC Q58EX7; Q5T619: ZNF648; NbExp=3; IntAct=EBI-949255, EBI-11985915;
CC Q58EX7-2; P21810: BGN; NbExp=3; IntAct=EBI-21503705, EBI-762076;
CC Q58EX7-2; P55212: CASP6; NbExp=3; IntAct=EBI-21503705, EBI-718729;
CC Q58EX7-2; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-21503705, EBI-745535;
CC Q58EX7-2; O75460-2: ERN1; NbExp=3; IntAct=EBI-21503705, EBI-25852368;
CC Q58EX7-2; Q0VDC6: FKBP1A; NbExp=3; IntAct=EBI-21503705, EBI-10226858;
CC Q58EX7-2; P28799: GRN; NbExp=3; IntAct=EBI-21503705, EBI-747754;
CC Q58EX7-2; P54652: HSPA2; NbExp=3; IntAct=EBI-21503705, EBI-356991;
CC Q58EX7-2; P04792: HSPB1; NbExp=3; IntAct=EBI-21503705, EBI-352682;
CC Q58EX7-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-21503705, EBI-10975473;
CC Q58EX7-2; O14901: KLF11; NbExp=3; IntAct=EBI-21503705, EBI-948266;
CC Q58EX7-2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-21503705, EBI-21591415;
CC Q58EX7-2; P60891: PRPS1; NbExp=3; IntAct=EBI-21503705, EBI-749195;
CC Q58EX7-2; O76024: WFS1; NbExp=3; IntAct=EBI-21503705, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q58EX7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q58EX7-2; Sequence=VSP_017329;
CC Name=3; Synonyms=short;
CC IsoId=Q58EX7-3; Sequence=VSP_017330, VSP_017331;
CC -!- TISSUE SPECIFICITY: Expressed in kidney, Leydig cells in the testis,
CC epithelial cells in the prostate gland and Langerhans islet in the
CC pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje
CC cells and to a lower extent in other neurons (at protein level). Widely
CC expressed at low levels. More strongly expressed in testis and
CC pancreas. {ECO:0000269|PubMed:16001362}.
CC -!- CAUTION: Defects in PLEKHG4 were initially thought (PubMed:16001362) to
CC be the cause of spinocerebellar ataxia 16q22-linked. However, it was
CC later shown (PubMed:17611710) that it is not the case. Spinocerebellar
CC ataxia 16q22-linked, also known as spinocerebellar ataxia type 31
CC (SCA31), is caused by defects in BEAN gene.
CC {ECO:0000305|PubMed:16001362, ECO:0000305|PubMed:17611710}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH82974.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB15765.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB197663; BAE07054.1; -; mRNA.
DR EMBL; AB197664; BAE07055.1; -; mRNA.
DR EMBL; AK024475; BAB15765.1; ALT_INIT; mRNA.
DR EMBL; BC054486; AAH54486.1; -; mRNA.
DR EMBL; BC063501; AAH63501.1; -; mRNA.
DR EMBL; BC082974; AAH82974.1; ALT_FRAME; mRNA.
DR EMBL; AL117435; CAB55923.1; -; mRNA.
DR CCDS; CCDS32466.1; -. [Q58EX7-1]
DR CCDS; CCDS45512.1; -. [Q58EX7-2]
DR PIR; T17233; T17233.
DR RefSeq; NP_001123199.1; NM_001129727.2. [Q58EX7-1]
DR RefSeq; NP_001123200.1; NM_001129728.1. [Q58EX7-1]
DR RefSeq; NP_001123201.1; NM_001129729.2. [Q58EX7-1]
DR RefSeq; NP_001123203.1; NM_001129731.2. [Q58EX7-2]
DR RefSeq; XP_011521287.1; XM_011522985.2. [Q58EX7-1]
DR RefSeq; XP_011521288.1; XM_011522986.2. [Q58EX7-1]
DR RefSeq; XP_011521289.1; XM_011522987.2. [Q58EX7-1]
DR RefSeq; XP_011521290.1; XM_011522988.2. [Q58EX7-1]
DR AlphaFoldDB; Q58EX7; -.
DR SMR; Q58EX7; -.
DR BioGRID; 117402; 158.
DR IntAct; Q58EX7; 86.
DR MINT; Q58EX7; -.
DR STRING; 9606.ENSP00000353646; -.
DR iPTMnet; Q58EX7; -.
DR PhosphoSitePlus; Q58EX7; -.
DR BioMuta; PLEKHG4; -.
DR DMDM; 74755121; -.
DR EPD; Q58EX7; -.
DR jPOST; Q58EX7; -.
DR MassIVE; Q58EX7; -.
DR MaxQB; Q58EX7; -.
DR PaxDb; Q58EX7; -.
DR PeptideAtlas; Q58EX7; -.
DR PRIDE; Q58EX7; -.
DR ProteomicsDB; 62615; -. [Q58EX7-1]
DR ProteomicsDB; 62616; -. [Q58EX7-2]
DR ProteomicsDB; 62617; -. [Q58EX7-3]
DR Antibodypedia; 29493; 94 antibodies from 21 providers.
DR DNASU; 25894; -.
DR Ensembl; ENST00000360461.9; ENSP00000353646.5; ENSG00000196155.13. [Q58EX7-1]
DR Ensembl; ENST00000379344.8; ENSP00000368649.3; ENSG00000196155.13. [Q58EX7-1]
DR Ensembl; ENST00000393966.1; ENSP00000462601.1; ENSG00000196155.13. [Q58EX7-3]
DR Ensembl; ENST00000427155.6; ENSP00000401118.2; ENSG00000196155.13. [Q58EX7-1]
DR Ensembl; ENST00000450733.5; ENSP00000398030.1; ENSG00000196155.13. [Q58EX7-2]
DR Ensembl; ENST00000563969.5; ENSP00000457086.1; ENSG00000196155.13. [Q58EX7-3]
DR GeneID; 25894; -.
DR KEGG; hsa:25894; -.
DR MANE-Select; ENST00000379344.8; ENSP00000368649.3; NM_001129729.3; NP_001123201.1.
DR UCSC; uc002eso.5; human. [Q58EX7-1]
DR CTD; 25894; -.
DR DisGeNET; 25894; -.
DR GeneCards; PLEKHG4; -.
DR HGNC; HGNC:24501; PLEKHG4.
DR HPA; ENSG00000196155; Tissue enhanced (testis).
DR MalaCards; PLEKHG4; -.
DR MIM; 609526; gene.
DR neXtProt; NX_Q58EX7; -.
DR OpenTargets; ENSG00000196155; -.
DR Orphanet; 98765; Spinocerebellar ataxia type 4.
DR PharmGKB; PA142671163; -.
DR VEuPathDB; HostDB:ENSG00000196155; -.
DR eggNOG; KOG0689; Eukaryota.
DR GeneTree; ENSGT00940000158845; -.
DR HOGENOM; CLU_1408307_0_0_1; -.
DR InParanoid; Q58EX7; -.
DR OMA; GENDSQG; -.
DR PhylomeDB; Q58EX7; -.
DR TreeFam; TF334329; -.
DR PathwayCommons; Q58EX7; -.
DR Reactome; R-HSA-8980692; RHOA GTPase cycle.
DR Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR Reactome; R-HSA-9013149; RAC1 GTPase cycle.
DR SignaLink; Q58EX7; -.
DR SIGNOR; Q58EX7; -.
DR BioGRID-ORCS; 25894; 21 hits in 1082 CRISPR screens.
DR ChiTaRS; PLEKHG4; human.
DR GeneWiki; PLEKHG4; -.
DR GenomeRNAi; 25894; -.
DR Pharos; Q58EX7; Tbio.
DR PRO; PR:Q58EX7; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q58EX7; protein.
DR Bgee; ENSG00000196155; Expressed in right testis and 131 other tissues.
DR ExpressionAtlas; Q58EX7; baseline and differential.
DR Genevisible; Q58EX7; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:Reactome.
DR GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR CDD; cd00160; RhoGEF; 1.
DR Gene3D; 1.20.900.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR036865; CRAL-TRIO_dom_sf.
DR InterPro; IPR035899; DBL_dom_sf.
DR InterPro; IPR000219; DH-domain.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR Pfam; PF00621; RhoGEF; 1.
DR SMART; SM00233; PH; 1.
DR SMART; SM00325; RhoGEF; 1.
DR SUPFAM; SSF48065; SSF48065; 1.
DR SUPFAM; SSF52087; SSF52087; 1.
DR PROSITE; PS50010; DH_2; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Guanine-nucleotide releasing factor; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..1191
FT /note="Puratrophin-1"
FT /id="PRO_0000224996"
FT DOMAIN 732..908
FT /note="DH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT DOMAIN 920..1027
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..152
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 707..728
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1150..1176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..16
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 27..41
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 83..97
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1152..1176
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 64
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT VAR_SEQ 118..198
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017329"
FT VAR_SEQ 167..193
FT /note="APSGSGLPKPADCLLAQDLCWELLASG -> GKEGWAREVWEGNGDAWRDEC
FT QDFGGL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16001362"
FT /id="VSP_017330"
FT VAR_SEQ 194..1191
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16001362"
FT /id="VSP_017331"
FT VARIANT 412
FT /note="T -> I (in dbSNP:rs11860295)"
FT /id="VAR_050509"
FT VARIANT 525
FT /note="D -> G (in dbSNP:rs8044843)"
FT /id="VAR_050510"
FT VARIANT 830
FT /note="R -> H (in dbSNP:rs3868142)"
FT /id="VAR_050511"
FT VARIANT 1064
FT /note="R -> H (in dbSNP:rs56077142)"
FT /id="VAR_061519"
FT VARIANT 1090
FT /note="S -> T (in dbSNP:rs17680862)"
FT /id="VAR_050512"
FT CONFLICT 474
FT /note="W -> L (in Ref. 3; AAH54486)"
FT /evidence="ECO:0000305"
FT CONFLICT 998
FT /note="R -> G (in Ref. 3; AAH54486)"
FT /evidence="ECO:0000305"
FT CONFLICT 1134
FT /note="P -> L (in Ref. 4; CAB55923)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1191 AA; 130803 MW; ACFF5EE342CE56FD CRC64;
MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGES
DTPGVGLVGD PGPSRAMPSG LSPGALDSDP VGLGDPLSEI SKLLEAAPSG SGLPKPADCL
LAQDLCWELL ASGMATLPGT RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR
PEVQALGLTV LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL LQGAIESVKA
VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE LTWLKQEVPE VTLSPDYRTA
MDKADELYDR VDGLLHQLTL QSNQRIQALE LVQTLEARES GLHQIEVWLQ QVGWPALEEA
GEPSLDMLLQ AQGSFQELYQ VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE
FSRALAQRCQ RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP PVGSTASLCV
SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA ACRRPEAGGG ALPQASPTVP
PPGSSDPRSL NRLQLVLAEM VATEREYVRA LEYTMENYFP ELDRPDVPQG LRGQRAHLFG
NLEKLRDFHC HFFLRELEAC TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH
TFFKDKQQAL GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE ELLLFSKPRH
GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK ARDTFVLQAS SLAIKQAWTA
DISHLLWRQA VHNKEVRMAE MVSMGVGNKA FRDIAPSEEA INDRTVNYVL KCREVRSRAS
IAVAPFDHDS LYLGASNSLP GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE
AEAELGGQPS LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V
