PKHH1_HUMAN
ID PKHH1_HUMAN Reviewed; 1364 AA.
AC Q9ULM0; A6H8X6; Q6PJL4; Q6ZWC7;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 2.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Pleckstrin homology domain-containing family H member 1;
DE Short=PH domain-containing family H member 1;
GN Name=PLEKHH1; Synonyms=KIAA1200;
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 1).
RC TISSUE=Brain;
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Amygdala;
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] (ISOFORM 1).
RC TISSUE=Placenta;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9ULM0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9ULM0-2; Sequence=VSP_029347, VSP_029348, VSP_029349;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA86514.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB033026; BAA86514.1; ALT_INIT; mRNA.
DR EMBL; AK123305; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC014159; AAH14159.1; -; mRNA.
DR EMBL; BC146787; AAI46788.1; -; mRNA.
DR CCDS; CCDS45128.1; -. [Q9ULM0-1]
DR RefSeq; NP_065766.1; NM_020715.2. [Q9ULM0-1]
DR AlphaFoldDB; Q9ULM0; -.
DR SMR; Q9ULM0; -.
DR BioGRID; 121545; 11.
DR IntAct; Q9ULM0; 6.
DR MINT; Q9ULM0; -.
DR STRING; 9606.ENSP00000330278; -.
DR GlyGen; Q9ULM0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9ULM0; -.
DR PhosphoSitePlus; Q9ULM0; -.
DR BioMuta; PLEKHH1; -.
DR DMDM; 160418959; -.
DR EPD; Q9ULM0; -.
DR jPOST; Q9ULM0; -.
DR MassIVE; Q9ULM0; -.
DR MaxQB; Q9ULM0; -.
DR PaxDb; Q9ULM0; -.
DR PeptideAtlas; Q9ULM0; -.
DR PRIDE; Q9ULM0; -.
DR ProteomicsDB; 85075; -. [Q9ULM0-1]
DR ProteomicsDB; 85076; -. [Q9ULM0-2]
DR Antibodypedia; 64198; 74 antibodies from 17 providers.
DR DNASU; 57475; -.
DR Ensembl; ENST00000329153.10; ENSP00000330278.5; ENSG00000054690.14. [Q9ULM0-1]
DR GeneID; 57475; -.
DR KEGG; hsa:57475; -.
DR MANE-Select; ENST00000329153.10; ENSP00000330278.5; NM_020715.3; NP_065766.1.
DR UCSC; uc001xjl.2; human. [Q9ULM0-1]
DR CTD; 57475; -.
DR DisGeNET; 57475; -.
DR GeneCards; PLEKHH1; -.
DR HGNC; HGNC:17733; PLEKHH1.
DR HPA; ENSG00000054690; Group enriched (brain, thyroid gland).
DR neXtProt; NX_Q9ULM0; -.
DR OpenTargets; ENSG00000054690; -.
DR PharmGKB; PA134879998; -.
DR VEuPathDB; HostDB:ENSG00000054690; -.
DR eggNOG; KOG0248; Eukaryota.
DR GeneTree; ENSGT00940000159456; -.
DR HOGENOM; CLU_001626_3_1_1; -.
DR InParanoid; Q9ULM0; -.
DR OMA; NRKASMP; -.
DR OrthoDB; 75793at2759; -.
DR PhylomeDB; Q9ULM0; -.
DR TreeFam; TF312866; -.
DR PathwayCommons; Q9ULM0; -.
DR SignaLink; Q9ULM0; -.
DR BioGRID-ORCS; 57475; 16 hits in 1077 CRISPR screens.
DR ChiTaRS; PLEKHH1; human.
DR GenomeRNAi; 57475; -.
DR Pharos; Q9ULM0; Tdark.
DR PRO; PR:Q9ULM0; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9ULM0; protein.
DR Bgee; ENSG00000054690; Expressed in right lobe of thyroid gland and 170 other tissues.
DR ExpressionAtlas; Q9ULM0; baseline and differential.
DR Genevisible; Q9ULM0; HS.
DR GO; GO:0005856; C:cytoskeleton; IEA:InterPro.
DR CDD; cd14473; FERM_B-lobe; 1.
DR Gene3D; 1.20.80.10; -; 1.
DR Gene3D; 1.25.40.530; -; 1.
DR Gene3D; 2.30.29.30; -; 3.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_sf.
DR InterPro; IPR035963; FERM_2.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR000857; MyTH4_dom.
DR InterPro; IPR038185; MyTH4_dom_sf.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR040105; PKHH1.
DR PANTHER; PTHR22903:SF4; PTHR22903:SF4; 1.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF00784; MyTH4; 1.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00295; B41; 1.
DR SMART; SM00139; MyTH4; 1.
DR SMART; SM00233; PH; 2.
DR SUPFAM; SSF47031; SSF47031; 1.
DR PROSITE; PS50057; FERM_3; 1.
DR PROSITE; PS51016; MYTH4; 1.
DR PROSITE; PS50003; PH_DOMAIN; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome;
KW Repeat.
FT CHAIN 1..1364
FT /note="Pleckstrin homology domain-containing family H
FT member 1"
FT /id="PRO_0000310948"
FT DOMAIN 578..672
FT /note="PH 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 687..796
FT /note="PH 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT DOMAIN 832..986
FT /note="MyTH4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00359"
FT DOMAIN 997..1333
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT REGION 184..266
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 296..321
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 356..395
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 487..529
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 546..568
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 28..169
FT /evidence="ECO:0000255"
FT COMPBIAS 195..209
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 223..249
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 364..395
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 487..519
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 745
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80TI1"
FT VAR_SEQ 1..485
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029347"
FT VAR_SEQ 724..754
FT /note="RPLGCLPVRDAHIEEVDRSCDSDEDYEAGGT -> VLLSLLTIPTLLLPPKH
FT MTATLCPDESPYPT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029348"
FT VAR_SEQ 755..1364
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029349"
FT VARIANT 75
FT /note="N -> S (in dbSNP:rs7150973)"
FT /id="VAR_037094"
FT VARIANT 113
FT /note="Q -> L (in dbSNP:rs3825723)"
FT /id="VAR_037095"
FT VARIANT 322
FT /note="R -> Q (in dbSNP:rs2236235)"
FT /id="VAR_037096"
FT VARIANT 430
FT /note="T -> A (in dbSNP:rs3825725)"
FT /id="VAR_037097"
FT VARIANT 438
FT /note="M -> V (in dbSNP:rs17104428)"
FT /id="VAR_037098"
FT VARIANT 735
FT /note="H -> R (in dbSNP:rs11158685)"
FT /id="VAR_037099"
SQ SEQUENCE 1364 AA; 151232 MW; 695F4B1A05566F6C CRC64;
MAELKVEAPA SVDWQKRCLT LETQLFRFRL QASKIRELLA DKMQELEQRL LEAEQRAENA
ETQVGVMEEK VKLSNLKNVD SEGSLHRKYQ ELLKAIKGKD ELISQLEAQL EKQKQMRAEE
AKTVQEKAAK IKEWVTLKLA KLEMENQHLK SHNQRLVEQV GSLQDALEAI QIAPSRKLLV
PPYGAAEQDS VPSEPGIQPM GQDSGSQAQG LKAAVLAPSP GALQSKDSVS EAASPLEDSS
SSTVHSGETV EAKPLQPHLG RESPPHQPCM KLLTFRCSSA SWGEGLVTAQ RGMLPGTKTS
AREGGPGSSL TLPKVRAPGT PRDSIQLAKR HHSQPQVGHG HFGRVVNIET EAFSALHPSG
LPELESRARS REEPEKMEME EPPPAGKNEE RESPKALGAE LEEVELGNKP PTPPLHQFSS
WESRIYAVAT SGMRLSDMSP RSNTACCASS PPALVSPGSF SGLVYKNVTV PVYTALKGRA
TQISNMPFMD ESSGSDDDCS SQASFRISVP SSESRKTSGL GSPRAIKRGV SMSSLSSEGD
YAIPPDACSL DSDYSEPEHK LQRTSSYSTD GLGLGGESLE KSGYLLKMGS QVKTWKRRWF
VLRQGQIMYY KSPSDVIRKP QGQVDLNSRC QIVRGEGSQT FQLISEKKTY YLTADSPSLL
EEWIRVLQSL LKVQATGPPA LLRGGTKPTV KGWLTKVKHG HSKVVWCALV GKIFYYYRSH
EDKRPLGCLP VRDAHIEEVD RSCDSDEDYE AGGTRRLLSS HCTLVIHPTE HSPTYLLIGT
KHEKDTWLYH LTVAAGGSSA KVGTAYEQLI GKLMDGEGDP DSPLWRHPML CYSKDGLYAS
LTTLPSEALQ TEALKLFKSC QLFINVPVEA ASVDYHVSLA QTALQVCLVH PELQSEIYCQ
LMKQTSCRPP QKYSLMQCWQ LLALCAPLFL PQHHFLWYVK QQLQRHADPR SETGQYATYC
QRAVERTLRT GEREARPSRM EVVSILLRNP FHHSLPFSIP VHFTNGTYHV VGFDGSSTVD
EFLQRLNQEI GMRKPSHSGF ALFTDDPSGR DLEHCLQGSV KICDAISKWE QAMKELHPGK
SEGGTRVVKL MYKNRLYFRS QVKGETDRER LLLASQTSRE IVAGRFPINK ELALEMAALM
AQVEYGDLEK PALPGPGGTS PAKAQHLLQQ VLDRFHPRRY RHGAPAEQLR HLADMLTTKW
ATLQGCSPPE CIRIYLTVAR KWPFFGAKLF AAQPAQLSSK ENALVWIAVN EDGVSILDHN
TMQVHITYPY SSVTTFGGCR DDFMLVIRSI PDKSSGKSHI EKLIFRMAAP KIAEATFIMA
SYMNHCTTTV NPPTNPPGAC QLWELDGRQF FSSVSCATKG PTLL
