PHLB3_HUMAN
ID PHLB3_HUMAN Reviewed; 640 AA.
AC Q6NSJ2; Q8N7Z4;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Pleckstrin homology-like domain family B member 3;
GN Name=PHLDB3;
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] (ISOFORM 2).
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ARG-239.
RC TISSUE=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).
CC -!- INTERACTION:
CC Q6NSJ2-2; Q9Y3Y2-3: CHTOP; NbExp=3; IntAct=EBI-11018958, EBI-11984237;
CC Q6NSJ2-2; P06753: TPM3; NbExp=3; IntAct=EBI-11018958, EBI-355607;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6NSJ2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NSJ2-2; Sequence=VSP_039923, VSP_039924;
CC -!- DOMAIN: The PH domain mediates the binding to phosphoinositides.
CC {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC05082.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK097512; BAC05082.1; ALT_SEQ; mRNA.
DR EMBL; AC018758; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC070094; AAH70094.1; -; mRNA.
DR CCDS; CCDS12621.2; -. [Q6NSJ2-1]
DR RefSeq; NP_942147.3; NM_198850.3. [Q6NSJ2-1]
DR AlphaFoldDB; Q6NSJ2; -.
DR SMR; Q6NSJ2; -.
DR BioGRID; 575902; 81.
DR IntAct; Q6NSJ2; 24.
DR MINT; Q6NSJ2; -.
DR STRING; 9606.ENSP00000292140; -.
DR iPTMnet; Q6NSJ2; -.
DR PhosphoSitePlus; Q6NSJ2; -.
DR BioMuta; PHLDB3; -.
DR DMDM; 311033417; -.
DR EPD; Q6NSJ2; -.
DR jPOST; Q6NSJ2; -.
DR MassIVE; Q6NSJ2; -.
DR MaxQB; Q6NSJ2; -.
DR PaxDb; Q6NSJ2; -.
DR PeptideAtlas; Q6NSJ2; -.
DR PRIDE; Q6NSJ2; -.
DR ProteomicsDB; 66637; -. [Q6NSJ2-1]
DR ProteomicsDB; 66638; -. [Q6NSJ2-2]
DR Antibodypedia; 48957; 8 antibodies from 7 providers.
DR DNASU; 653583; -.
DR Ensembl; ENST00000292140.10; ENSP00000292140.5; ENSG00000176531.11. [Q6NSJ2-1]
DR Ensembl; ENST00000599242.1; ENSP00000471158.1; ENSG00000176531.11. [Q6NSJ2-2]
DR GeneID; 653583; -.
DR KEGG; hsa:653583; -.
DR MANE-Select; ENST00000292140.10; ENSP00000292140.5; NM_198850.4; NP_942147.3.
DR UCSC; uc002own.5; human. [Q6NSJ2-1]
DR CTD; 653583; -.
DR DisGeNET; 653583; -.
DR GeneCards; PHLDB3; -.
DR HGNC; HGNC:30499; PHLDB3.
DR HPA; ENSG00000176531; Tissue enhanced (esophagus, skin).
DR neXtProt; NX_Q6NSJ2; -.
DR OpenTargets; ENSG00000176531; -.
DR VEuPathDB; HostDB:ENSG00000176531; -.
DR eggNOG; ENOG502RF6E; Eukaryota.
DR GeneTree; ENSGT00940000160803; -.
DR HOGENOM; CLU_028602_0_0_1; -.
DR InParanoid; Q6NSJ2; -.
DR OMA; MGTRSRP; -.
DR PhylomeDB; Q6NSJ2; -.
DR TreeFam; TF338037; -.
DR PathwayCommons; Q6NSJ2; -.
DR SignaLink; Q6NSJ2; -.
DR BioGRID-ORCS; 653583; 24 hits in 1072 CRISPR screens.
DR ChiTaRS; PHLDB3; human.
DR GenomeRNAi; 653583; -.
DR Pharos; Q6NSJ2; Tdark.
DR PRO; PR:Q6NSJ2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6NSJ2; protein.
DR Bgee; ENSG00000176531; Expressed in lower esophagus mucosa and 117 other tissues.
DR ExpressionAtlas; Q6NSJ2; baseline and differential.
DR Genevisible; Q6NSJ2; HS.
DR GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR CDD; cd14673; PH_PHLDB1_2; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR037810; PHLDB1/2/3_PH.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00233; PH; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..640
FT /note="Pleckstrin homology-like domain family B member 3"
FT /id="PRO_0000053896"
FT DOMAIN 532..635
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 1..100
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 162..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 241..262
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 387..412
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 476..504
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 104..327
FT /evidence="ECO:0000255"
FT COILED 454..481
FT /evidence="ECO:0000255"
FT COMPBIAS 24..40
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 170..189
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 241..257
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 276..279
FT /note="RGAL -> VSHA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_039923"
FT VAR_SEQ 280..640
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_039924"
FT VARIANT 239
FT /note="Q -> R (in dbSNP:rs11083711)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_056671"
SQ SEQUENCE 640 AA; 71912 MW; A752825E3FFBFEDE CRC64;
MGTRSSPEEG TPPPLVPECD VEVQPQGHPE ESREQEASEV LAEPSSRGGA EQQAEEEEVG
EGSSTESSRD APEATPPIAM AATPPASTSS REGVRGAARR LQGQQLEALT RVALMEQRVK
ELQRQRKELR IEMEVEVALL RGELAGERVA ARREEEQLRE LLEQQAASEQ RGRQQREQEQ
RRLSQERDRL EGLRQRLRKA QGQLDSQPED QRERLLQGVQ EMREQLDVAQ RAYEDLEFQQ
LERESRQEEE DRDSPGPQVP DPKVQELQAS MAQHRRGALQ HRIRVLEEQL KSLGEQMAAE
SRGLSRKKEE ALQALSQERS RLLELNCLQG TPGGDFSEPN PALTKLLFTQ KTDRQLLVLQ
DAVAHSAATP TSSCLFSVHS SLQGSIGLQR TGSLPRKRGE RGSQRGSPRP LSFHCTESLE
ASALPPAVGD SGRYPLYQLL NCGRGNSCGA IHPDIAHMER LLQQAMAERE RLLKAREGTR
RGTEGSSGPA VPAITAPPTP PHPPGPRILD LRQHLEGWGH NPENCPHVQV SGCCCRGPLV
KMGGRIKTWR KRWFCFDRQA RRLAYYADKE ETKLKGVIYF QAIEEVYYDH LRCAFKSPNP
RLTFCVKTYE RLFYMVAPSP EAMRIWMDVI VTAADENHAP
