PKHB1_HUMAN
ID PKHB1_HUMAN Reviewed; 243 AA.
AC Q9UF11; A8K0Q5; B2RBP1; B7Z716; Q9UBF5; Q9UI37; Q9UI44;
DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Pleckstrin homology domain-containing family B member 1;
DE Short=PH domain-containing family B member 1;
DE AltName: Full=Evectin-1;
DE AltName: Full=PH domain-containing protein in retina 1;
DE Short=PHRET1;
DE AltName: Full=Pleckstrin homology domain retinal protein 1;
GN Name=PLEKHB1;
GN Synonyms=EVT1, KPL1, PHR1 {ECO:0000303|PubMed:10585447}, PHRET1;
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; 2; 3 AND 4), INTERACTION WITH
RP TRANSDUCIN, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RC TISSUE=Brain, and Retina;
RX PubMed=10585447; DOI=10.1074/jbc.274.50.35676;
RA Xu S., Ladak R., Swanson D.A., Soltyk A., Sun H., Ploder L., Vidgen D.,
RA Duncan A.M.V., Garami E., McInnes R.R., Valle D.;
RT "PHR1 encodes an abundant, pleckstrin homology domain-containing integral
RT membrane protein in the photoreceptor outer segments.";
RL J. Biol. Chem. 274:35676-35685(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Brain, Retina, and Tracheal epithelium;
RX PubMed=10923244; DOI=10.1080/019021400404537;
RA Andrews K.L., Potdar P.D., Nettesheim P., Ostrowski L.E.;
RT "KPL1, which encodes a novel PH domain-containing protein, is induced
RT during ciliated cell differentiation of rat tracheal epithelial cells.";
RL Exp. Lung Res. 26:257-271(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
RC TISSUE=Amygdala, Corpus callosum, Stomach, and Subthalamic nucleus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=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).
CC -!- SUBUNIT: Homodimer. Interacts (via PH domain) with MYO1C. Interacts
CC (via PH domain) with MYO7A (By similarity). Binds transducins
CC (PubMed:10585447). {ECO:0000250|UniProtKB:Q9QYE9,
CC ECO:0000269|PubMed:10585447}.
CC -!- INTERACTION:
CC Q9UF11; P52306: RAP1GDS1; NbExp=3; IntAct=EBI-6447271, EBI-746389;
CC Q9UF11-2; O95817: BAG3; NbExp=3; IntAct=EBI-12832742, EBI-747185;
CC Q9UF11-2; Q5SWW7: C10orf55; NbExp=4; IntAct=EBI-12832742, EBI-12809220;
CC Q9UF11-2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-12832742, EBI-10976677;
CC Q9UF11-2; Q9BZE0: GLIS2; NbExp=3; IntAct=EBI-12832742, EBI-7251368;
CC Q9UF11-2; P04792: HSPB1; NbExp=3; IntAct=EBI-12832742, EBI-352682;
CC Q9UF11-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-12832742, EBI-10975473;
CC Q9UF11-2; P52306-5: RAP1GDS1; NbExp=5; IntAct=EBI-12832742, EBI-12832744;
CC Q9UF11-2; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-12832742, EBI-396669;
CC Q9UF11-2; Q9NQB0-10: TCF7L2; NbExp=3; IntAct=EBI-12832742, EBI-11746252;
CC Q9UF11-2; O95231: VENTX; NbExp=3; IntAct=EBI-12832742, EBI-10191303;
CC Q9UF11-2; O76024: WFS1; NbExp=3; IntAct=EBI-12832742, EBI-720609;
CC Q9UF11-4; Q9NP31: SH2D2A; NbExp=3; IntAct=EBI-9089825, EBI-490630;
CC Q9UF11-4; Q8IUH5: ZDHHC17; NbExp=4; IntAct=EBI-9089825, EBI-524753;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10585447}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9QYE9}. Note=Localizes to the apical juxta-
CC nuclear Golgi region of the cytoplasm (By similarity). Membrane-
CC associated (PubMed:10585447). Highly expressed in the outer segments of
CC photoreceptor cells, both in rods and cones (PubMed:10585447).
CC {ECO:0000250|UniProtKB:Q9QYE9, ECO:0000269|PubMed:10585447}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9UF11-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UF11-2; Sequence=VSP_009780;
CC Name=3;
CC IsoId=Q9UF11-3; Sequence=VSP_009779;
CC Name=4;
CC IsoId=Q9UF11-4; Sequence=VSP_009779, VSP_009780;
CC -!- TISSUE SPECIFICITY: Highly expressed in retina and brain. Levels are
CC very low or not detectable in all other tissues tested.
CC {ECO:0000269|PubMed:10585447}.
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DR EMBL; U89715; AAF16675.1; -; mRNA.
DR EMBL; AF093249; AAF16684.1; -; mRNA.
DR EMBL; AF101054; AAF18572.1; -; mRNA.
DR EMBL; AF100612; AAF18932.1; -; mRNA.
DR EMBL; AF081583; AAF21786.1; -; mRNA.
DR EMBL; AK289620; BAF82309.1; -; mRNA.
DR EMBL; AK289909; BAF82598.1; -; mRNA.
DR EMBL; AK290109; BAF82798.1; -; mRNA.
DR EMBL; AK301299; BAH13452.1; -; mRNA.
DR EMBL; AK314748; BAG37288.1; -; mRNA.
DR EMBL; CH471076; EAW74900.1; -; Genomic_DNA.
DR EMBL; CH471076; EAW74903.1; -; Genomic_DNA.
DR EMBL; CH471076; EAW74904.1; -; Genomic_DNA.
DR EMBL; BC008075; AAH08075.1; -; mRNA.
DR CCDS; CCDS44672.1; -. [Q9UF11-1]
DR CCDS; CCDS44673.1; -. [Q9UF11-2]
DR CCDS; CCDS44674.1; -. [Q9UF11-3]
DR CCDS; CCDS44675.1; -. [Q9UF11-4]
DR RefSeq; NP_001123505.1; NM_001130033.1. [Q9UF11-2]
DR RefSeq; NP_001123506.1; NM_001130034.1. [Q9UF11-3]
DR RefSeq; NP_001123507.1; NM_001130035.1. [Q9UF11-4]
DR RefSeq; NP_001123508.1; NM_001130036.1. [Q9UF11-4]
DR RefSeq; NP_067023.1; NM_021200.2. [Q9UF11-1]
DR RefSeq; XP_011543494.1; XM_011545192.2. [Q9UF11-3]
DR RefSeq; XP_011543495.1; XM_011545193.2. [Q9UF11-4]
DR AlphaFoldDB; Q9UF11; -.
DR SMR; Q9UF11; -.
DR BioGRID; 121807; 26.
DR IntAct; Q9UF11; 17.
DR MINT; Q9UF11; -.
DR STRING; 9606.ENSP00000346127; -.
DR iPTMnet; Q9UF11; -.
DR PhosphoSitePlus; Q9UF11; -.
DR BioMuta; PLEKHB1; -.
DR DMDM; 48474683; -.
DR jPOST; Q9UF11; -.
DR MassIVE; Q9UF11; -.
DR MaxQB; Q9UF11; -.
DR PaxDb; Q9UF11; -.
DR PeptideAtlas; Q9UF11; -.
DR PRIDE; Q9UF11; -.
DR ProteomicsDB; 84163; -. [Q9UF11-1]
DR ProteomicsDB; 84164; -. [Q9UF11-2]
DR ProteomicsDB; 84165; -. [Q9UF11-3]
DR ProteomicsDB; 84166; -. [Q9UF11-4]
DR Antibodypedia; 30966; 46 antibodies from 22 providers.
DR DNASU; 58473; -.
DR Ensembl; ENST00000227214.10; ENSP00000227214.6; ENSG00000021300.14. [Q9UF11-4]
DR Ensembl; ENST00000354190.10; ENSP00000346127.5; ENSG00000021300.14. [Q9UF11-1]
DR Ensembl; ENST00000398492.8; ENSP00000381505.4; ENSG00000021300.14. [Q9UF11-2]
DR Ensembl; ENST00000398494.8; ENSP00000381507.4; ENSG00000021300.14. [Q9UF11-3]
DR Ensembl; ENST00000535129.5; ENSP00000442616.1; ENSG00000021300.14. [Q9UF11-4]
DR GeneID; 58473; -.
DR KEGG; hsa:58473; -.
DR MANE-Select; ENST00000354190.10; ENSP00000346127.5; NM_021200.3; NP_067023.1.
DR UCSC; uc001oua.3; human. [Q9UF11-1]
DR CTD; 58473; -.
DR DisGeNET; 58473; -.
DR GeneCards; PLEKHB1; -.
DR HGNC; HGNC:19079; PLEKHB1.
DR HPA; ENSG00000021300; Group enriched (brain, choroid plexus, retina).
DR MIM; 607651; gene.
DR neXtProt; NX_Q9UF11; -.
DR OpenTargets; ENSG00000021300; -.
DR PharmGKB; PA38787; -.
DR VEuPathDB; HostDB:ENSG00000021300; -.
DR eggNOG; ENOG502RQ6P; Eukaryota.
DR GeneTree; ENSGT00390000013989; -.
DR HOGENOM; CLU_102020_0_0_1; -.
DR InParanoid; Q9UF11; -.
DR OMA; HFNVRDV; -.
DR PhylomeDB; Q9UF11; -.
DR TreeFam; TF331787; -.
DR PathwayCommons; Q9UF11; -.
DR SignaLink; Q9UF11; -.
DR BioGRID-ORCS; 58473; 16 hits in 1073 CRISPR screens.
DR ChiTaRS; PLEKHB1; human.
DR GenomeRNAi; 58473; -.
DR Pharos; Q9UF11; Tbio.
DR PRO; PR:Q9UF11; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9UF11; protein.
DR Bgee; ENSG00000021300; Expressed in C1 segment of cervical spinal cord and 176 other tissues.
DR ExpressionAtlas; Q9UF11; baseline and differential.
DR Genevisible; Q9UF11; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IDA:UniProtKB.
DR GO; GO:0007602; P:phototransduction; NAS:UniProtKB.
DR GO; GO:0045595; P:regulation of cell differentiation; IBA:GO_Central.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR039816; PLEKHB1.
DR InterPro; IPR039680; PLEKHB1/2.
DR PANTHER; PTHR14309; PTHR14309; 1.
DR PANTHER; PTHR14309:SF7; PTHR14309:SF7; 1.
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; Cytoplasm; Developmental protein; Membrane;
KW Reference proteome.
FT CHAIN 1..243
FT /note="Pleckstrin homology domain-containing family B
FT member 1"
FT /id="PRO_0000053886"
FT DOMAIN 21..128
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT VAR_SEQ 1..19
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:10585447,
FT ECO:0000303|PubMed:10923244, ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_009779"
FT VAR_SEQ 131..165
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:10585447,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_009780"
SQ SEQUENCE 243 AA; 27186 MW; 8F60531721CF76CA CRC64;
MSPAAPVPPD SALESPFEEM ALVRGGWLWR QSSILRRWKR NWFALWLDGT LGYYHDETAQ
DEEDRVLIHF NVRDIKIGPE CHDVQPPEGR SRDGLLTVNL REGGRLHLCA ETKDDALAWK
TALLEANSTP APAGATVPPR SRRVCSKVRC VTRSWSPCKV ERRIWVRVYS PYQDYYEVVP
PNAHEATYVR SYYGPPYAGP GVTHVIVRED PCYSAGAPLA MGMLAGAATG AALGSLMWSP
CWF
