PKHM3_HUMAN
ID PKHM3_HUMAN Reviewed; 761 AA.
AC Q6ZWE6; B9EKV2; Q8WW68;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAR-2008, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Pleckstrin homology domain-containing family M member 3;
DE Short=PH domain-containing family M member 3;
DE AltName: Full=Differentiation associated protein {ECO:0000250|UniProtKB:Q8BM47};
GN Name=PLEKHM3 {ECO:0000312|HGNC:HGNC:34006};
GN Synonyms=DAPR {ECO:0000250|UniProtKB:Q8BM47}, PLEKHM1L;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 405-761 (ISOFORM 3).
RC TISSUE=Prostate;
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 254-761 (ISOFORM 2).
RC TISSUE=Brain cortex;
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 -!- FUNCTION: Involved in skeletal muscle differentiation. May act as a
CC scaffold protein for AKT1 during muscle differentiation.
CC {ECO:0000250|UniProtKB:Q8BM47}.
CC -!- SUBUNIT: Interacts with AKT1. {ECO:0000250|UniProtKB:Q8BM47}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BM47}. Golgi
CC apparatus {ECO:0000250|UniProtKB:Q8BM47}. Cell membrane
CC {ECO:0000250|UniProtKB:Q8BM47}. Note=Before differentiation of muscle
CC cells, localized to the Golgi apparatus. During muscle differentiation
CC shuttles to the plasma membrane. {ECO:0000250|UniProtKB:Q8BM47}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZWE6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZWE6-2; Sequence=VSP_032513;
CC Name=3;
CC IsoId=Q6ZWE6-3; Sequence=VSP_032511, VSP_032512;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85557.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AC083900; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC096772; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC020812; AAH20812.1; -; mRNA.
DR EMBL; BC151137; AAI51138.1; -; mRNA.
DR EMBL; AK123204; BAC85557.1; ALT_INIT; mRNA.
DR CCDS; CCDS42808.1; -. [Q6ZWE6-1]
DR RefSeq; NP_001073944.1; NM_001080475.2. [Q6ZWE6-1]
DR RefSeq; XP_011509462.1; XM_011511160.2. [Q6ZWE6-1]
DR AlphaFoldDB; Q6ZWE6; -.
DR SMR; Q6ZWE6; -.
DR BioGRID; 132958; 51.
DR IntAct; Q6ZWE6; 5.
DR STRING; 9606.ENSP00000417003; -.
DR iPTMnet; Q6ZWE6; -.
DR PhosphoSitePlus; Q6ZWE6; -.
DR BioMuta; PLEKHM3; -.
DR DMDM; 172046173; -.
DR jPOST; Q6ZWE6; -.
DR MassIVE; Q6ZWE6; -.
DR PaxDb; Q6ZWE6; -.
DR PeptideAtlas; Q6ZWE6; -.
DR PRIDE; Q6ZWE6; -.
DR ProteomicsDB; 68476; -. [Q6ZWE6-1]
DR ProteomicsDB; 68477; -. [Q6ZWE6-2]
DR ProteomicsDB; 68478; -. [Q6ZWE6-3]
DR Antibodypedia; 34191; 57 antibodies from 21 providers.
DR DNASU; 389072; -.
DR Ensembl; ENST00000427836.8; ENSP00000417003.2; ENSG00000178385.15. [Q6ZWE6-1]
DR Ensembl; ENST00000642765.2; ENSP00000496194.1; ENSG00000285005.2. [Q6ZWE6-1]
DR GeneID; 389072; -.
DR KEGG; hsa:389072; -.
DR MANE-Select; ENST00000427836.8; ENSP00000417003.2; NM_001080475.3; NP_001073944.1.
DR UCSC; uc002vcl.3; human. [Q6ZWE6-1]
DR CTD; 389072; -.
DR DisGeNET; 389072; -.
DR GeneCards; PLEKHM3; -.
DR HGNC; HGNC:34006; PLEKHM3.
DR HPA; ENSG00000178385; Low tissue specificity.
DR MIM; 619186; gene.
DR neXtProt; NX_Q6ZWE6; -.
DR OpenTargets; ENSG00000178385; -.
DR PharmGKB; PA162399738; -.
DR VEuPathDB; HostDB:ENSG00000178385; -.
DR eggNOG; KOG1829; Eukaryota.
DR GeneTree; ENSGT00940000159743; -.
DR HOGENOM; CLU_021585_0_0_1; -.
DR InParanoid; Q6ZWE6; -.
DR OMA; CELCHNG; -.
DR OrthoDB; 177737at2759; -.
DR PhylomeDB; Q6ZWE6; -.
DR TreeFam; TF317067; -.
DR PathwayCommons; Q6ZWE6; -.
DR SignaLink; Q6ZWE6; -.
DR BioGRID-ORCS; 389072; 13 hits in 1069 CRISPR screens.
DR ChiTaRS; PLEKHM3; human.
DR GenomeRNAi; 389072; -.
DR Pharos; Q6ZWE6; Tbio.
DR PRO; PR:Q6ZWE6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZWE6; protein.
DR Bgee; ENSG00000178385; Expressed in superior frontal gyrus and 99 other tissues.
DR ExpressionAtlas; Q6ZWE6; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0045445; P:myoblast differentiation; ISS:UniProtKB.
DR CDD; cd14674; PH_PLEKHM3_1; 1.
DR Gene3D; 2.30.29.30; -; 2.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR037812; PLEKHM3_PH_1.
DR InterPro; IPR025258; Zf-RING_9.
DR Pfam; PF00169; PH; 1.
DR Pfam; PF13901; zf-RING_9; 1.
DR SMART; SM01175; DUF4206; 1.
DR SMART; SM00233; PH; 2.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Cytoplasm; Golgi apparatus; Membrane;
KW Metal-binding; Phosphoprotein; Reference proteome; Repeat; Zinc;
KW Zinc-finger.
FT CHAIN 1..761
FT /note="Pleckstrin homology domain-containing family M
FT member 3"
FT /id="PRO_0000326034"
FT DOMAIN 211..308
FT /note="PH 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 361..456
FT /note="PH 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT ZN_FING 669..722
FT /note="Phorbol-ester/DAG-type"
FT MOD_RES 132
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BM47"
FT VAR_SEQ 517..523
FT /note="CQRSIGL -> MKQIFSL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032511"
FT VAR_SEQ 524..761
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032512"
FT VAR_SEQ 704..761
FT /note="CESCGAVFHSECKEKSVPCPRCVRRELQKKQKSFWQRLNMDESLEEACTMFE
FT LSYQNT -> FGDPYADLLQGYVA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032513"
SQ SEQUENCE 761 AA; 87166 MW; 53A2BCF3580CAE14 CRC64;
MEALEVDDIS PALEVTEEFF STLDSNLEKA VQQAEVYGIQ EVPELVGHEV LSNITDNGAM
RNVTSLGKGG MIWDHCKSRL LETKAQNVFP AKEQFMVQRG TTPDNLSWME QKEASTFNFF
NICQRRRDRP RSVNDLLDET STFKPGHARS RSDITQVDWR VVLKTTPLQQ QQQQQPLLQG
PHVTRPSFLL PSPNKIEDAQ GNTEHKQTFP NILKKGYLEI RKDHDSYWQS CYAELSPYNL
YFYSLDSSGN QNLYATYQLS HFQSISVLGN LEARMVDTVL YDNTQLQLKA ESPWEALDWG
QKLWEVVHAA VPGYMGRQNE LTISPGLGHH DDYTQNHSFQ KKTSGLLPPS PVLDSSKQYQ
NILKSGTLYR LTVQNNWKAF TFVLSRAYLM AFQPGKLDED PLLSYNVDVC LAVQMDNLDG
CDSCFQVIFP QDVLRLRAET RQRAQEWMEA LKIAANVARS SEQNLQVTLR NKPKDQMGGH
ELRKNKRQSV TTSFLSILTT LSLERGLTAQ SFKCAGCQRS IGLSNGKAKV CNYSGWYYCS
SCHVDDSFLI PARIVHNWDT SKYKVSKQAK EFLEYVYEEP LIDIQQENAM LYHHAEPLAA
VLRLRQRLKS LRAYLFSCRA AVAEDLRRRI FPREYLLQQI HLYSLADLQQ VIEGKLAPFL
GKVIKFATSH VYSCSLCSQK GFICEICNNG EILYPFEDIS TSRCESCGAV FHSECKEKSV
PCPRCVRREL QKKQKSFWQR LNMDESLEEA CTMFELSYQN T
