ID   PXDC1_HUMAN             Reviewed;         231 AA.
AC   Q5TGL8; A8K0N3; Q6PGP0; Q86XB7;
DT   21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT   25-NOV-2008, sequence version 3.
DT   03-AUG-2022, entry version 124.
DE   RecName: Full=PX domain-containing protein 1;
GN   Name=PXDC1; Synonyms=C6orf145;
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].
RC   TISSUE=Brain cortex;
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 MRNA], AND VARIANT HIS-184.
RC   TISSUE=Lymph node;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS HIS-184 AND GLN-189.
RC   TISSUE=Brain, and 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).
RN   [5]
RP   VARIANT [LARGE SCALE ANALYSIS] GLN-203.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
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DR   EMBL; AK289598; BAF82287.1; -; mRNA.
DR   EMBL; AL832792; CAI46167.1; -; mRNA.
DR   EMBL; AL391422; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL033523; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC045715; AAH45715.3; -; mRNA.
DR   EMBL; BC056908; AAH56908.1; -; mRNA.
DR   CCDS; CCDS4486.1; -.
DR   RefSeq; NP_899229.2; NM_183373.3.
DR   AlphaFoldDB; Q5TGL8; -.
DR   SMR; Q5TGL8; -.
DR   BioGRID; 128751; 7.
DR   IntAct; Q5TGL8; 6.
DR   STRING; 9606.ENSP00000369636; -.
DR   iPTMnet; Q5TGL8; -.
DR   PhosphoSitePlus; Q5TGL8; -.
DR   BioMuta; PXDC1; -.
DR   DMDM; 215274177; -.
DR   EPD; Q5TGL8; -.
DR   jPOST; Q5TGL8; -.
DR   MassIVE; Q5TGL8; -.
DR   MaxQB; Q5TGL8; -.
DR   PaxDb; Q5TGL8; -.
DR   PeptideAtlas; Q5TGL8; -.
DR   PRIDE; Q5TGL8; -.
DR   ProteomicsDB; 65122; -.
DR   TopDownProteomics; Q5TGL8; -.
DR   Antibodypedia; 2913; 40 antibodies from 8 providers.
DR   DNASU; 221749; -.
DR   Ensembl; ENST00000380283.5; ENSP00000369636.5; ENSG00000168994.14.
DR   GeneID; 221749; -.
DR   KEGG; hsa:221749; -.
DR   MANE-Select; ENST00000380283.5; ENSP00000369636.5; NM_183373.4; NP_899229.2.
DR   UCSC; uc003mvt.3; human.
DR   CTD; 221749; -.
DR   DisGeNET; 221749; -.
DR   GeneCards; PXDC1; -.
DR   HGNC; HGNC:21361; PXDC1.
DR   HPA; ENSG00000168994; Tissue enhanced (liver).
DR   neXtProt; NX_Q5TGL8; -.
DR   OpenTargets; ENSG00000168994; -.
DR   PharmGKB; PA134944183; -.
DR   VEuPathDB; HostDB:ENSG00000168994; -.
DR   eggNOG; ENOG502QQ4P; Eukaryota.
DR   GeneTree; ENSGT00390000009209; -.
DR   HOGENOM; CLU_1199438_0_0_1; -.
DR   InParanoid; Q5TGL8; -.
DR   OMA; YLHRSYA; -.
DR   OrthoDB; 1192509at2759; -.
DR   PhylomeDB; Q5TGL8; -.
DR   TreeFam; TF331154; -.
DR   PathwayCommons; Q5TGL8; -.
DR   SignaLink; Q5TGL8; -.
DR   BioGRID-ORCS; 221749; 16 hits in 1074 CRISPR screens.
DR   ChiTaRS; PXDC1; human.
DR   GenomeRNAi; 221749; -.
DR   Pharos; Q5TGL8; Tdark.
DR   PRO; PR:Q5TGL8; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; Q5TGL8; protein.
DR   Bgee; ENSG00000168994; Expressed in ascending aorta and 200 other tissues.
DR   ExpressionAtlas; Q5TGL8; baseline and differential.
DR   Genevisible; Q5TGL8; HS.
DR   GO; GO:0035091; F:phosphatidylinositol binding; IEA:InterPro.
DR   Gene3D; 3.30.1520.10; -; 1.
DR   InterPro; IPR036871; PX_dom_sf.
DR   InterPro; IPR040288; PXDC1.
DR   PANTHER; PTHR31433; PTHR31433; 1.
DR   SUPFAM; SSF64268; SSF64268; 1.
PE   2: Evidence at transcript level;
KW   Reference proteome.
FT   CHAIN           1..231
FT                   /note="PX domain-containing protein 1"
FT                   /id="PRO_0000297573"
FT   DOMAIN          1..134
FT                   /note="PX"
FT   VARIANT         184
FT                   /note="Q -> H (in dbSNP:rs226959)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:17974005"
FT                   /id="VAR_034643"
FT   VARIANT         189
FT                   /note="P -> Q (in dbSNP:rs17855666)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_034644"
FT   VARIANT         203
FT                   /note="E -> Q (in a breast cancer sample; somatic mutation;
FT                   dbSNP:rs368727869)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035619"
SQ   SEQUENCE   231 AA;  26560 MW;  22FD56F8F1562CFE CRC64;
     MASAVFEGTS LVNMFVRGCW VNGIRRLIVS RRGDEEEFFE IRTEWSDRSV LYLHRSLADL
     GRLWQRLRDA FPEDRSELAQ GPLRQGLVAI KEAHDIETRL NEVEKLLKTI ISMPCKYSRS
     EVVLTFFERS PLDQVLKNDN VHKIQPSFQS PVKISEIMRS NGFCLANTET IVIDHSIPNG
     RDQQLGVDPT EHLFENGSEF PSELEDGDDP AAYVTNLSYY HLVPFETDIW D