PKHS1_HUMAN
ID PKHS1_HUMAN Reviewed; 465 AA.
AC Q5SXH7; A8KA02; B3KX00; B6EDE1; Q5SXH8; Q5SXI0; Q6ZQR5; Q8NE42; Q9H5D9;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 07-OCT-2020, sequence version 4.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Pleckstrin homology domain-containing family S member 1 {ECO:0000305};
DE Short=PH domain-containing family S member 1;
DE AltName: Full=Epididymis luminal protein 185;
DE Short=hEL185;
GN Name=PLEKHS1 {ECO:0000312|HGNC:HGNC:26285}; Synonyms=C10orf81;
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] (ISOFORM 5), AND VARIANT TYR-254.
RA Li J., Wang H.;
RL Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 199-465 (ISOFORM 2), AND VARIANT TYR-254.
RC TISSUE=Lung, Small intestine, and Trachea;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 179-465 (ISOFORM 1), AND VARIANT TYR-254.
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 Q5SXH7-1; P28329-3: CHAT; NbExp=3; IntAct=EBI-26412802, EBI-25837549;
CC Q5SXH7-1; O75460-2: ERN1; NbExp=3; IntAct=EBI-26412802, EBI-25852368;
CC Q5SXH7-1; P22607: FGFR3; NbExp=3; IntAct=EBI-26412802, EBI-348399;
CC Q5SXH7-1; Q0VDC6: FKBP1A; NbExp=3; IntAct=EBI-26412802, EBI-10226858;
CC Q5SXH7-1; P62993: GRB2; NbExp=2; IntAct=EBI-26412802, EBI-401755;
CC Q5SXH7-1; Q14957: GRIN2C; NbExp=3; IntAct=EBI-26412802, EBI-8285963;
CC Q5SXH7-1; P06396: GSN; NbExp=3; IntAct=EBI-26412802, EBI-351506;
CC Q5SXH7-1; P54652: HSPA2; NbExp=3; IntAct=EBI-26412802, EBI-356991;
CC Q5SXH7-1; Q9BUL8: PDCD10; NbExp=3; IntAct=EBI-26412802, EBI-740195;
CC Q5SXH7-1; Q92569: PIK3R3; NbExp=4; IntAct=EBI-26412802, EBI-79893;
CC Q5SXH7-1; Q9NUJ3: TCP11L1; NbExp=3; IntAct=EBI-26412802, EBI-2555179;
CC Q5SXH7-1; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-26412802, EBI-741480;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=5;
CC IsoId=Q5SXH7-5; Sequence=Displayed;
CC Name=1;
CC IsoId=Q5SXH7-1; Sequence=VSP_060738, VSP_060741, VSP_060742;
CC Name=2;
CC IsoId=Q5SXH7-2; Sequence=VSP_060740;
CC Name=3;
CC IsoId=Q5SXH7-3; Sequence=VSP_060736, VSP_060741, VSP_060742;
CC Name=4;
CC IsoId=Q5SXH7-4; Sequence=VSP_060737, VSP_060738, VSP_060739;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH36365.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15687.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; FJ236306; ACI45238.1; -; mRNA.
DR EMBL; AK027190; BAB15687.1; ALT_INIT; mRNA.
DR EMBL; AK126354; BAG54312.1; -; mRNA.
DR EMBL; AK128811; BAC87618.1; -; mRNA.
DR EMBL; AK292867; BAF85556.1; -; mRNA.
DR EMBL; AL592546; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036365; AAH36365.2; ALT_INIT; mRNA.
DR EMBL; BC037870; AAH37870.1; -; mRNA.
DR CCDS; CCDS53580.1; -. [Q5SXH7-5]
DR CCDS; CCDS53581.1; -. [Q5SXH7-3]
DR CCDS; CCDS7583.1; -. [Q5SXH7-4]
DR RefSeq; NP_001180363.1; NM_001193434.1.
DR RefSeq; NP_001180364.1; NM_001193435.1.
DR RefSeq; NP_079165.3; NM_024889.4.
DR RefSeq; NP_872407.1; NM_182601.1.
DR AlphaFoldDB; Q5SXH7; -.
DR BioGRID; 123020; 5.
DR IntAct; Q5SXH7; 13.
DR STRING; 9606.ENSP00000358316; -.
DR iPTMnet; Q5SXH7; -.
DR PhosphoSitePlus; Q5SXH7; -.
DR BioMuta; PLEKHS1; -.
DR DMDM; 172045921; -.
DR jPOST; Q5SXH7; -.
DR MassIVE; Q5SXH7; -.
DR PaxDb; Q5SXH7; -.
DR PeptideAtlas; Q5SXH7; -.
DR PRIDE; Q5SXH7; -.
DR ProteomicsDB; 63989; -. [Q5SXH7-1]
DR ProteomicsDB; 63990; -. [Q5SXH7-2]
DR ProteomicsDB; 63991; -. [Q5SXH7-3]
DR ProteomicsDB; 63992; -. [Q5SXH7-4]
DR ProteomicsDB; 63993; -. [Q5SXH7-5]
DR Antibodypedia; 31887; 68 antibodies from 12 providers.
DR DNASU; 79949; -.
DR Ensembl; ENST00000361048.6; ENSP00000354332.1; ENSG00000148735.15.
DR Ensembl; ENST00000369310.7; ENSP00000358316.3; ENSG00000148735.15.
DR Ensembl; ENST00000369312.9; ENSP00000358318.4; ENSG00000148735.15.
DR Ensembl; ENST00000619563.5; ENSP00000483759.1; ENSG00000148735.15.
DR GeneID; 79949; -.
DR KEGG; hsa:79949; -.
DR UCSC; uc001lar.3; human. [Q5SXH7-5]
DR CTD; 79949; -.
DR DisGeNET; 79949; -.
DR GeneCards; PLEKHS1; -.
DR HGNC; HGNC:26285; PLEKHS1.
DR HPA; ENSG00000148735; Group enriched (breast, cervix, intestine, pancreas, salivary gland).
DR neXtProt; NX_Q5SXH7; -.
DR PharmGKB; PA134886856; -.
DR VEuPathDB; HostDB:ENSG00000148735; -.
DR eggNOG; ENOG502RDEC; Eukaryota.
DR HOGENOM; CLU_049125_1_0_1; -.
DR InParanoid; Q5SXH7; -.
DR OrthoDB; 924973at2759; -.
DR PhylomeDB; Q5SXH7; -.
DR TreeFam; TF334193; -.
DR PathwayCommons; Q5SXH7; -.
DR SignaLink; Q5SXH7; -.
DR BioGRID-ORCS; 79949; 6 hits in 1064 CRISPR screens.
DR ChiTaRS; PLEKHS1; human.
DR GenomeRNAi; 79949; -.
DR Pharos; Q5SXH7; Tbio.
DR PRO; PR:Q5SXH7; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5SXH7; protein.
DR Bgee; ENSG00000148735; Expressed in olfactory segment of nasal mucosa and 112 other tissues.
DR ExpressionAtlas; Q5SXH7; baseline and differential.
DR Genevisible; Q5SXH7; HS.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR042986; PLEKHS1.
DR PANTHER; PTHR47014; PTHR47014; 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; Reference proteome.
FT CHAIN 1..465
FT /note="Pleckstrin homology domain-containing family S
FT member 1"
FT /id="PRO_0000320675"
FT DOMAIN 14..129
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 159..179
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 255..283
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 255..276
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..82
FT /note="Missing (in isoform 3)"
FT /id="VSP_060736"
FT VAR_SEQ 1..3
FT /note="MAG -> MEPKPQKSP (in isoform 4)"
FT /id="VSP_060737"
FT VAR_SEQ 310
FT /note="G -> GSASLTVVQLSILIN (in isoform 4 and isoform 1)"
FT /id="VSP_060738"
FT VAR_SEQ 344..465
FT /note="Missing (in isoform 4)"
FT /id="VSP_060739"
FT VAR_SEQ 390..465
FT /note="DSFRILSYQVAFGEGTELRDRAPGFRTSDRHDVAKRACMESDWCRDSKTAPS
FT TNLCLSFLFCKIMTNDGAGCWIIK -> KLKLTIGRIPNSETFHAASCMCPSKCQSAAP
FT SQLDKPRLNRAPKRSPAIKKSQQKGARE (in isoform 2)"
FT /id="VSP_060740"
FT VAR_SEQ 390..448
FT /note="DSFRILSYQVAFGEGTELRDRAPGFRTSDRHDVAKRACMESDWCRDSKTAPS
FT TNLCLSF -> KLKLTIGRIPNSETFHAASCMCPSKCQSAAPSQLDKPRLNRAPKRSPA
FT IKKSQQKGARE (in isoform 3 and isoform 1)"
FT /id="VSP_060741"
FT VAR_SEQ 449..465
FT /note="Missing (in isoform 3 and isoform 1)"
FT /id="VSP_060742"
FT VARIANT 254
FT /note="S -> Y"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_080192"
FT VARIANT 323
FT /note="V -> I (in dbSNP:rs34024791)"
FT /id="VAR_039275"
FT CONFLICT 352
FT /note="P -> R (in Ref. 4; AAH36365)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 465 AA; 52459 MW; A9A9C93E5F2B9262 CRC64;
MAGGKQFTFS YENEVCKQDY FIKSPPSQLF SSVTSWKKRF FILSKAGEKS FSLSYYKDHH
HRGSIEIDQN SSVEVGISSQ EKMQSVQKMF KCHPDEVMSI RTTNREYFLI GHDREKIKDW
VSFMSSFRQD IKATQQNTEE ELSLGNKRTL FYSSPLLGPS STSEAVGSSS PRNGLQDKHL
MEQSSPGFRQ THLQDLSEAT QDVKEENHYL TPRSVLLELD NIIASSDSGE SIETDGPDQV
SGRIECHYEP MESSFFKETS HESVDSSKEE PQTLPETQDG DLHLQEQGSG IDWCLSPADV
EAQTTNDQKG NIPDESQVEK LNVFLSPPDV INYLALTEAT GRICVSQWEG PPRLGCIFCH
GDHLLAVNDL KPQSLEEVSL FLTRSIQKED SFRILSYQVA FGEGTELRDR APGFRTSDRH
DVAKRACMES DWCRDSKTAP STNLCLSFLF CKIMTNDGAG CWIIK
