ID   PITH1_HUMAN             Reviewed;         211 AA.
AC   Q9GZP4; B2R7J4; Q5QPN6; Q5QPN7; Q9NRI8;
DT   01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   27-MAR-2024, entry version 154.
DE   RecName: Full=PITH domain-containing protein 1;
GN   Name=PITHD1; Synonyms=C1orf128; ORFNames=AD039, HT014, PP603;
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=Adrenal gland;
RA   Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.;
RL   Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Hypothalamus;
RX   PubMed=10931946; DOI=10.1073/pnas.160270997;
RA   Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA   Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA   Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA   Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA   Chen M.-D., Chen J.-L.;
RT   "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT   and full-length cDNA cloning.";
RL   Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA   Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA   Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA   Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT   "Large-scale cDNA transfection screening for genes related to cancer
RT   development and progression.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Cerebellum;
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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [6]
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   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Lung;
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   [8]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-189, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=15592455; DOI=10.1038/nbt1046;
RA   Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H.,
RA   Zha X.-M., Polakiewicz R.D., Comb M.J.;
RT   "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
RL   Nat. Biotechnol. 23:94-101(2005).
RN   [9]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [10]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA   Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT   phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
RN   [11]
RP   FUNCTION, INDUCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=25134913; DOI=10.1007/s00018-014-1704-2;
RA   Lu B., Sun X., Chen Y., Jin Q., Liang Q., Liu S., Li Y., Zhou Y., Li W.,
RA   Huang Z.;
RT   "Novel function of PITH domain-containing 1 as an activator of internal
RT   ribosomal entry site to enhance RUNX1 expression and promote megakaryocyte
RT   differentiation.";
RL   Cell. Mol. Life Sci. 72:821-832(2015).
CC   -!- FUNCTION: Promotes megakaryocyte differentiation by up-regulating RUNX1
CC       expression (PubMed:25134913). Regulates RUNX1 expression by activating
CC       the proximal promoter of the RUNX1 gene and by enhancing the
CC       translation activity of an internal ribosome entry site (IRES) element
CC       in the RUNX1 gene (PubMed:25134913). {ECO:0000269|PubMed:25134913}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25134913}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9GZP4-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9GZP4-2; Sequence=VSP_024807;
CC   -!- TISSUE SPECIFICITY: Down-regulated in primary acute myeloid leukemia
CC       (AML) patients. {ECO:0000269|PubMed:25134913}.
CC   -!- INDUCTION: Up-regulated in K562 and HEL cells undergoing megakaryocyte
CC       differentiation induced by phorbol myristate acetate (PMA).
CC       {ECO:0000269|PubMed:25134913}.
CC   -!- SIMILARITY: Belongs to the PITHD1 family. {ECO:0000305}.
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DR   EMBL; AF271784; AAG44795.1; -; mRNA.
DR   EMBL; AF221595; AAF91232.1; -; mRNA.
DR   EMBL; AF218024; AAG17266.1; -; mRNA.
DR   EMBL; AK313005; BAG35841.1; -; mRNA.
DR   EMBL; AL031295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471134; EAW95075.1; -; Genomic_DNA.
DR   EMBL; BC017208; AAH17208.1; -; mRNA.
DR   CCDS; CCDS240.1; -. [Q9GZP4-1]
DR   RefSeq; NP_065095.2; NM_020362.4. [Q9GZP4-1]
DR   AlphaFoldDB; Q9GZP4; -.
DR   SMR; Q9GZP4; -.
DR   BioGRID; 121363; 53.
DR   IntAct; Q9GZP4; 11.
DR   MINT; Q9GZP4; -.
DR   STRING; 9606.ENSP00000246151; -.
DR   GlyGen; Q9GZP4; 3 sites, 2 O-linked glycans (3 sites).
DR   iPTMnet; Q9GZP4; -.
DR   PhosphoSitePlus; Q9GZP4; -.
DR   BioMuta; PITHD1; -.
DR   DMDM; 74752536; -.
DR   REPRODUCTION-2DPAGE; IPI00015351; -.
DR   EPD; Q9GZP4; -.
DR   jPOST; Q9GZP4; -.
DR   MassIVE; Q9GZP4; -.
DR   MaxQB; Q9GZP4; -.
DR   PaxDb; 9606-ENSP00000246151; -.
DR   PeptideAtlas; Q9GZP4; -.
DR   ProteomicsDB; 80105; -. [Q9GZP4-1]
DR   ProteomicsDB; 80106; -. [Q9GZP4-2]
DR   Pumba; Q9GZP4; -.
DR   Antibodypedia; 2117; 13 antibodies from 9 providers.
DR   DNASU; 57095; -.
DR   Ensembl; ENST00000246151.9; ENSP00000246151.4; ENSG00000057757.10. [Q9GZP4-1]
DR   GeneID; 57095; -.
DR   KEGG; hsa:57095; -.
DR   MANE-Select; ENST00000246151.9; ENSP00000246151.4; NM_020362.5; NP_065095.2.
DR   UCSC; uc001bhq.4; human. [Q9GZP4-1]
DR   AGR; HGNC:25022; -.
DR   CTD; 57095; -.
DR   DisGeNET; 57095; -.
DR   GeneCards; PITHD1; -.
DR   HGNC; HGNC:25022; PITHD1.
DR   HPA; ENSG00000057757; Low tissue specificity.
DR   MIM; 618784; gene.
DR   neXtProt; NX_Q9GZP4; -.
DR   OpenTargets; ENSG00000057757; -.
DR   PharmGKB; PA142672446; -.
DR   VEuPathDB; HostDB:ENSG00000057757; -.
DR   eggNOG; KOG1730; Eukaryota.
DR   GeneTree; ENSGT00490000043398; -.
DR   HOGENOM; CLU_072377_2_0_1; -.
DR   InParanoid; Q9GZP4; -.
DR   OMA; RLVFKPW; -.
DR   OrthoDB; 196725at2759; -.
DR   PhylomeDB; Q9GZP4; -.
DR   TreeFam; TF314669; -.
DR   PathwayCommons; Q9GZP4; -.
DR   SignaLink; Q9GZP4; -.
DR   BioGRID-ORCS; 57095; 11 hits in 1150 CRISPR screens.
DR   ChiTaRS; PITHD1; human.
DR   GenomeRNAi; 57095; -.
DR   Pharos; Q9GZP4; Tdark.
DR   PRO; PR:Q9GZP4; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q9GZP4; Protein.
DR   Bgee; ENSG00000057757; Expressed in secondary oocyte and 183 other cell types or tissues.
DR   ExpressionAtlas; Q9GZP4; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR   GO; GO:0097598; C:sperm cytoplasmic droplet; IEA:Ensembl.
DR   GO; GO:0061956; P:penetration of cumulus oophorus; IEA:Ensembl.
DR   GO; GO:0007341; P:penetration of zona pellucida; IEA:Ensembl.
DR   GO; GO:0045893; P:positive regulation of DNA-templated transcription; IDA:UniProtKB.
DR   GO; GO:0045654; P:positive regulation of megakaryocyte differentiation; IMP:UniProtKB.
DR   GO; GO:0061136; P:regulation of proteasomal protein catabolic process; IEA:Ensembl.
DR   GO; GO:0007286; P:spermatid development; IEA:Ensembl.
DR   Gene3D; 2.60.120.470; PITH domain; 1.
DR   InterPro; IPR008979; Galactose-bd-like_sf.
DR   InterPro; IPR045099; PITH1-like.
DR   InterPro; IPR010400; PITH_dom.
DR   InterPro; IPR037047; PITH_dom_sf.
DR   PANTHER; PTHR12175; AD039 HT014 THIOREDOXIN FAMILY TRP26; 1.
DR   PANTHER; PTHR12175:SF1; PITH DOMAIN-CONTAINING PROTEIN 1; 1.
DR   Pfam; PF06201; PITH; 1.
DR   SUPFAM; SSF49785; Galactose-binding domain-like; 1.
DR   PROSITE; PS51532; PITH; 1.
DR   Genevisible; Q9GZP4; HS.
PE   1: Evidence at protein level;
KW   Activator; Alternative splicing; Cytoplasm; Phosphoprotein;
KW   Reference proteome; Transcription; Transcription regulation.
FT   CHAIN           1..211
FT                   /note="PITH domain-containing protein 1"
FT                   /id="PRO_0000285032"
FT   DOMAIN          20..192
FT                   /note="PITH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00864"
FT   MOD_RES         189
FT                   /note="Phosphotyrosine"
FT                   /evidence="ECO:0007744|PubMed:15592455"
FT   VAR_SEQ         53
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10931946"
FT                   /id="VSP_024807"
SQ   SEQUENCE   211 AA;  24178 MW;  CFB3B6A0D75685FA CRC64;
     MSHGHSHGGG GCRCAAEREE PPEQRGLAYG LYLRIDLERL QCLNESREGS GRGVFKPWEE
     RTDRSKFVES DADEELLFNI PFTGNVKLKG IIIMGEDDDS HPSEMRLYKN IPQMSFDDTE
     REPDQTFSLN RDLTGELEYA TKISRFSNVY HLSIHISKNF GADTTKVFYI GLRGEWTELR
     RHEVTICNYE ASANPADHRV HQVTPQTHFI S
//