PIHD2_HUMAN
ID PIHD2_HUMAN Reviewed; 315 AA.
AC Q8WWB5; B4DU48; E9PD82;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=PIH1 domain-containing protein 2;
GN Name=PIH1D2;
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 3).
RC TISSUE=Prostate;
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 131-315 (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=16344560; DOI=10.1101/gr.4039406;
RA Kimura K., Wakamatsu A., Suzuki Y., Ota T., Nishikawa T., Yamashita R.,
RA Yamamoto J., Sekine M., Tsuritani K., Wakaguri H., Ishii S., Sugiyama T.,
RA Saito K., Isono Y., Irie R., Kushida N., Yoneyama T., Otsuka R., Kanda K.,
RA Yokoi T., Kondo H., Wagatsuma M., Murakawa K., Ishida S., Ishibashi T.,
RA Takahashi-Fujii A., Tanase T., Nagai K., Kikuchi H., Nakai K., Isogai T.,
RA Sugano S.;
RT "Diversification of transcriptional modulation: large-scale identification
RT and characterization of putative alternative promoters of human genes.";
RL Genome Res. 16:55-65(2006).
CC -!- INTERACTION:
CC Q8WWB5; X5D778: ANKRD11; NbExp=3; IntAct=EBI-10232538, EBI-17183751;
CC Q8WWB5; O95817: BAG3; NbExp=3; IntAct=EBI-10232538, EBI-747185;
CC Q8WWB5; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-10232538, EBI-11524452;
CC Q8WWB5; Q8N7E2: CBLL2; NbExp=3; IntAct=EBI-10232538, EBI-12196065;
CC Q8WWB5; Q9HC52: CBX8; NbExp=3; IntAct=EBI-10232538, EBI-712912;
CC Q8WWB5; Q96S94-5: CCNL2; NbExp=3; IntAct=EBI-10232538, EBI-12024864;
CC Q8WWB5; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-10232538, EBI-396137;
CC Q8WWB5; Q53HL2: CDCA8; NbExp=3; IntAct=EBI-10232538, EBI-979174;
CC Q8WWB5; Q8IVW4: CDKL3; NbExp=3; IntAct=EBI-10232538, EBI-3919850;
CC Q8WWB5; Q8IYR0: CFAP206; NbExp=3; IntAct=EBI-10232538, EBI-749051;
CC Q8WWB5; Q9UBI1: COMMD3; NbExp=5; IntAct=EBI-10232538, EBI-714979;
CC Q8WWB5; Q8WUE5: CT55; NbExp=3; IntAct=EBI-10232538, EBI-6873363;
CC Q8WWB5; P78358: CTAG1B; NbExp=3; IntAct=EBI-10232538, EBI-1188472;
CC Q8WWB5; P17661: DES; NbExp=3; IntAct=EBI-10232538, EBI-1055572;
CC Q8WWB5; Q96FX2: DPH3; NbExp=6; IntAct=EBI-10232538, EBI-465363;
CC Q8WWB5; O60469: DSCAM; NbExp=3; IntAct=EBI-10232538, EBI-19949317;
CC Q8WWB5; Q14240-2: EIF4A2; NbExp=3; IntAct=EBI-10232538, EBI-10232522;
CC Q8WWB5; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-10232538, EBI-744099;
CC Q8WWB5; Q9NQT4: EXOSC5; NbExp=3; IntAct=EBI-10232538, EBI-371876;
CC Q8WWB5; O43559: FRS3; NbExp=3; IntAct=EBI-10232538, EBI-725515;
CC Q8WWB5; P14136: GFAP; NbExp=4; IntAct=EBI-10232538, EBI-744302;
CC Q8WWB5; Q96IK5: GMCL1; NbExp=3; IntAct=EBI-10232538, EBI-2548508;
CC Q8WWB5; Q96D09: GPRASP2; NbExp=3; IntAct=EBI-10232538, EBI-473189;
CC Q8WWB5; Q9BYE0: HES7; NbExp=3; IntAct=EBI-10232538, EBI-12163087;
CC Q8WWB5; Q9ULV5-2: HSF4; NbExp=3; IntAct=EBI-10232538, EBI-12056251;
CC Q8WWB5; O43464: HTRA2; NbExp=3; IntAct=EBI-10232538, EBI-517086;
CC Q8WWB5; P42858: HTT; NbExp=3; IntAct=EBI-10232538, EBI-466029;
CC Q8WWB5; Q8NA54: IQUB; NbExp=3; IntAct=EBI-10232538, EBI-10220600;
CC Q8WWB5; Q13352: ITGB3BP; NbExp=7; IntAct=EBI-10232538, EBI-712105;
CC Q8WWB5; Q13352-5: ITGB3BP; NbExp=3; IntAct=EBI-10232538, EBI-10175826;
CC Q8WWB5; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-10232538, EBI-10176379;
CC Q8WWB5; P60329: KRTAP12-4; NbExp=6; IntAct=EBI-10232538, EBI-10176396;
CC Q8WWB5; P28838: LAP3; NbExp=3; IntAct=EBI-10232538, EBI-2339312;
CC Q8WWB5; P20700: LMNB1; NbExp=3; IntAct=EBI-10232538, EBI-968218;
CC Q8WWB5; P59942: MCCD1; NbExp=3; IntAct=EBI-10232538, EBI-11987923;
CC Q8WWB5; Q99750: MDFI; NbExp=6; IntAct=EBI-10232538, EBI-724076;
CC Q8WWB5; Q9H944: MED20; NbExp=3; IntAct=EBI-10232538, EBI-394644;
CC Q8WWB5; Q8IVT2: MISP; NbExp=3; IntAct=EBI-10232538, EBI-2555085;
CC Q8WWB5; Q96HT8: MRFAP1L1; NbExp=8; IntAct=EBI-10232538, EBI-748896;
CC Q8WWB5; P35240: NF2; NbExp=3; IntAct=EBI-10232538, EBI-1014472;
CC Q8WWB5; Q16649: NFIL3; NbExp=3; IntAct=EBI-10232538, EBI-3951858;
CC Q8WWB5; Q5HYW2: NHSL2; NbExp=3; IntAct=EBI-10232538, EBI-2859639;
CC Q8WWB5; A8MTQ0: NOTO; NbExp=3; IntAct=EBI-10232538, EBI-17490746;
CC Q8WWB5; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10232538, EBI-741158;
CC Q8WWB5; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-10232538, EBI-398874;
CC Q8WWB5; Q9BYU1: PBX4; NbExp=6; IntAct=EBI-10232538, EBI-10302990;
CC Q8WWB5; Q9NW61: PLEKHJ1; NbExp=3; IntAct=EBI-10232538, EBI-1057560;
CC Q8WWB5; O15160: POLR1C; NbExp=3; IntAct=EBI-10232538, EBI-1055079;
CC Q8WWB5; Q9NQX0: PRDM6; NbExp=3; IntAct=EBI-10232538, EBI-11320284;
CC Q8WWB5; O60678: PRMT3; NbExp=3; IntAct=EBI-10232538, EBI-2809009;
CC Q8WWB5; P41219: PRPH; NbExp=3; IntAct=EBI-10232538, EBI-752074;
CC Q8WWB5; Q04864: REL; NbExp=4; IntAct=EBI-10232538, EBI-307352;
CC Q8WWB5; Q2I0M5: RSPO4; NbExp=3; IntAct=EBI-10232538, EBI-12821217;
CC Q8WWB5; O00560: SDCBP; NbExp=3; IntAct=EBI-10232538, EBI-727004;
CC Q8WWB5; Q9UHV2: SERTAD1; NbExp=3; IntAct=EBI-10232538, EBI-748601;
CC Q8WWB5; P03973: SLPI; NbExp=3; IntAct=EBI-10232538, EBI-355293;
CC Q8WWB5; Q7Z699: SPRED1; NbExp=8; IntAct=EBI-10232538, EBI-5235340;
CC Q8WWB5; Q99909: SSX3; NbExp=3; IntAct=EBI-10232538, EBI-10295431;
CC Q8WWB5; P51687: SUOX; NbExp=3; IntAct=EBI-10232538, EBI-3921347;
CC Q8WWB5; P49848-3: TAF6; NbExp=3; IntAct=EBI-10232538, EBI-12940148;
CC Q8WWB5; Q5VWN6: TASOR2; NbExp=5; IntAct=EBI-10232538, EBI-745958;
CC Q8WWB5; Q96M53: TBATA; NbExp=3; IntAct=EBI-10232538, EBI-24203456;
CC Q8WWB5; Q15560: TCEA2; NbExp=3; IntAct=EBI-10232538, EBI-710310;
CC Q8WWB5; P19237: TNNI1; NbExp=3; IntAct=EBI-10232538, EBI-746692;
CC Q8WWB5; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-10232538, EBI-9090990;
CC Q8WWB5; Q9Y2K1: ZBTB1; NbExp=3; IntAct=EBI-10232538, EBI-2682961;
CC Q8WWB5; Q9UDW3: ZMAT5; NbExp=3; IntAct=EBI-10232538, EBI-7850213;
CC Q8WWB5; O15231: ZNF185; NbExp=3; IntAct=EBI-10232538, EBI-6874731;
CC Q8WWB5; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-10232538, EBI-740727;
CC Q8WWB5; Q7Z4V0: ZNF438; NbExp=3; IntAct=EBI-10232538, EBI-11962468;
CC Q8WWB5; P0C7X2: ZNF688; NbExp=3; IntAct=EBI-10232538, EBI-4395732;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WWB5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WWB5-2; Sequence=VSP_054022, VSP_054025;
CC Name=3;
CC IsoId=Q8WWB5-3; Sequence=VSP_054023, VSP_054024;
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to a competing donor splice
CC site. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the PIH1 family. {ECO:0000305}.
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DR EMBL; AK300496; BAG62210.1; -; mRNA.
DR EMBL; AP000907; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471065; EAW67177.1; -; Genomic_DNA.
DR EMBL; BC019238; AAH19238.1; -; mRNA.
DR EMBL; BP369833; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS44730.1; -. [Q8WWB5-2]
DR CCDS; CCDS8355.1; -. [Q8WWB5-1]
DR RefSeq; NP_001076088.1; NM_001082619.1. [Q8WWB5-2]
DR RefSeq; NP_620144.1; NM_138789.3. [Q8WWB5-1]
DR AlphaFoldDB; Q8WWB5; -.
DR SMR; Q8WWB5; -.
DR BioGRID; 125683; 72.
DR ComplexPortal; CPX-6150; R2SP co-chaperone complex.
DR IntAct; Q8WWB5; 72.
DR STRING; 9606.ENSP00000280350; -.
DR PhosphoSitePlus; Q8WWB5; -.
DR BioMuta; PIH1D2; -.
DR DMDM; 74730959; -.
DR MassIVE; Q8WWB5; -.
DR PaxDb; Q8WWB5; -.
DR PeptideAtlas; Q8WWB5; -.
DR PRIDE; Q8WWB5; -.
DR ProteomicsDB; 19604; -.
DR ProteomicsDB; 5149; -.
DR ProteomicsDB; 74873; -. [Q8WWB5-1]
DR Antibodypedia; 51744; 163 antibodies from 16 providers.
DR DNASU; 120379; -.
DR Ensembl; ENST00000280350.10; ENSP00000280350.4; ENSG00000150773.12. [Q8WWB5-1]
DR Ensembl; ENST00000431456.6; ENSP00000388209.1; ENSG00000150773.12. [Q8WWB5-2]
DR Ensembl; ENST00000528775.6; ENSP00000434275.1; ENSG00000150773.12. [Q8WWB5-2]
DR Ensembl; ENST00000530641.5; ENSP00000431147.1; ENSG00000150773.12. [Q8WWB5-3]
DR Ensembl; ENST00000532211.5; ENSP00000431841.1; ENSG00000150773.12. [Q8WWB5-1]
DR Ensembl; ENST00000676994.1; ENSP00000503801.1; ENSG00000150773.12. [Q8WWB5-1]
DR GeneID; 120379; -.
DR KEGG; hsa:120379; -.
DR MANE-Select; ENST00000280350.10; ENSP00000280350.4; NM_138789.4; NP_620144.1.
DR UCSC; uc001pmp.5; human. [Q8WWB5-1]
DR CTD; 120379; -.
DR DisGeNET; 120379; -.
DR GeneCards; PIH1D2; -.
DR HGNC; HGNC:25210; PIH1D2.
DR HPA; ENSG00000150773; Tissue enriched (testis).
DR MalaCards; PIH1D2; -.
DR neXtProt; NX_Q8WWB5; -.
DR OpenTargets; ENSG00000150773; -.
DR PharmGKB; PA162399536; -.
DR VEuPathDB; HostDB:ENSG00000150773; -.
DR eggNOG; KOG4356; Eukaryota.
DR GeneTree; ENSGT00510000048581; -.
DR HOGENOM; CLU_075974_0_0_1; -.
DR InParanoid; Q8WWB5; -.
DR OMA; PEPQFCL; -.
DR OrthoDB; 1394603at2759; -.
DR PhylomeDB; Q8WWB5; -.
DR TreeFam; TF324376; -.
DR PathwayCommons; Q8WWB5; -.
DR SignaLink; Q8WWB5; -.
DR BioGRID-ORCS; 120379; 17 hits in 1070 CRISPR screens.
DR ChiTaRS; PIH1D2; human.
DR GenomeRNAi; 120379; -.
DR Pharos; Q8WWB5; Tdark.
DR PRO; PR:Q8WWB5; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8WWB5; protein.
DR Bgee; ENSG00000150773; Expressed in left testis and 106 other tissues.
DR ExpressionAtlas; Q8WWB5; baseline and differential.
DR Genevisible; Q8WWB5; HS.
DR GO; GO:0101031; C:chaperone complex; IPI:ComplexPortal.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0097255; C:R2TP complex; IBA:GO_Central.
DR GO; GO:1990904; C:ribonucleoprotein complex; IBA:GO_Central.
DR GO; GO:0031267; F:small GTPase binding; IPI:UniProtKB.
DR GO; GO:0000492; P:box C/D snoRNP assembly; IBA:GO_Central.
DR GO; GO:0050821; P:protein stabilization; IC:ComplexPortal.
DR GO; GO:0006364; P:rRNA processing; IBA:GO_Central.
DR InterPro; IPR012981; PIH1_N.
DR InterPro; IPR041442; PIH1D1/2/3_CS-like.
DR Pfam; PF08190; PIH1; 1.
DR Pfam; PF18201; PIH1_CS; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..315
FT /note="PIH1 domain-containing protein 2"
FT /id="PRO_0000307334"
FT VAR_SEQ 272..288
FT /note="DDLLIEVSEKYRLHLNL -> GTTEPQALAKDELSLKF (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:16344560"
FT /id="VSP_054022"
FT VAR_SEQ 272..273
FT /note="DD -> VS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054023"
FT VAR_SEQ 274..315
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054024"
FT VAR_SEQ 289..315
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16344560"
FT /id="VSP_054025"
FT VARIANT 117
FT /note="A -> V (in dbSNP:rs1425917)"
FT /id="VAR_035415"
SQ SEQUENCE 315 AA; 35957 MW; F136BA2D0B28182C CRC64;
METSSKGLLT QVTQFWNLLD DLAQSDPEGY EKFIQQQLKE GKQLCAAPEP QLCLQTRILK
PKEKILFINL CQWTRIPAPQ STTHPVPLTV GKPEDTTEIS DAYTVIDVAY NPDVLHAAEK
DQVKKNQLIQ MAMKCIEEKF QFTLSHSYHI TKFRIKGSIQ RMKQNLMGIQ TDSIDLREKM
RRELTLGQIR SSTMSNPDHF PQLLLPKDQV SGKAVCLIEE ISSTEIQVEM KMPAYELKIV
HDHSEKPLKI ELKVELPGIN SVSLCDLSVS EDDLLIEVSE KYRLHLNLPK LIDTEMTTAK
FIKEKSTLII TMPLV
