PBLD_HUMAN
ID PBLD_HUMAN Reviewed; 288 AA.
AC P30039; A8MZJ3; C9JIM0; Q9HCC2;
DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot.
DT 26-SEP-2001, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Phenazine biosynthesis-like domain-containing protein;
DE EC=5.1.-.-;
DE AltName: Full=MAWD-binding protein;
DE Short=MAWDBP;
DE AltName: Full=Unknown protein 32 from 2D-page of liver tissue;
GN Name=PBLD; Synonyms=MAWBP;
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).
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=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 [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=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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 44-288 (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=11355021; DOI=10.1007/s100380170081;
RA Iriyama C., Matsuda S., Katsumata R., Hamaguchi M.;
RT "Cloning and sequencing of a novel human gene which encodes a putative
RT hydroxylase.";
RL J. Hum. Genet. 46:289-292(2001).
RN [6]
RP PROTEIN SEQUENCE OF 1-14.
RC TISSUE=Liver;
RX PubMed=1286669; DOI=10.1002/elps.11501301201;
RA Hochstrasser D.F., Frutiger S., Paquet N., Bairoch A., Ravier F.,
RA Pasquali C., Sanchez J.-C., Tissot J.-D., Bjellqvist B., Vargas R.,
RA Appel R.D., Hughes G.J.;
RT "Human liver protein map: a reference database established by
RT microsequencing and gel comparison.";
RL Electrophoresis 13:992-1001(1992).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
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 [9]
RP VARIANTS CYS-17 AND ARG-257.
RC TISSUE=Placenta;
RX PubMed=15806103; DOI=10.1038/ng1541;
RA van Dijk M., Mulders J., Poutsma A., Koenst A.A.M., Lachmeijer A.M.A.,
RA Dekker G.A., Blankenstein M.A., Oudejans C.B.M.;
RT "Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new
RT member of the winged helix gene family.";
RL Nat. Genet. 37:514-519(2005).
RN [10]
RP VARIANT ILE-62.
RX PubMed=22068589; DOI=10.1093/hmg/ddr509;
RA Khan K., Logan C.V., McKibbin M., Sheridan E., Elcioglu N.H., Yenice O.,
RA Parry D.A., Fernandez-Fuentes N., Abdelhamed Z.I., Al-Maskari A.,
RA Poulter J.A., Mohamed M.D., Carr I.M., Morgan J.E., Jafri H., Raashid Y.,
RA Taylor G.R., Johnson C.A., Inglehearn C.F., Toomes C., Ali M.;
RT "Next generation sequencing identifies mutations in Atonal homolog 7
RT (ATOH7) in families with global eye developmental defects.";
RL Hum. Mol. Genet. 21:776-783(2012).
CC -!- SUBUNIT: Interacts with UNRIP/MAWD.
CC -!- INTERACTION:
CC P30039; A2BDD9: AMOT; NbExp=3; IntAct=EBI-750589, EBI-17286414;
CC P30039; Q8N7W2-2: BEND7; NbExp=3; IntAct=EBI-750589, EBI-10181188;
CC P30039; Q52MB2: CCDC184; NbExp=6; IntAct=EBI-750589, EBI-10179526;
CC P30039; Q5JST6: EFHC2; NbExp=7; IntAct=EBI-750589, EBI-2349927;
CC P30039; O75791: GRAP2; NbExp=3; IntAct=EBI-750589, EBI-740418;
CC P30039; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-750589, EBI-739832;
CC P30039; P30039: PBLD; NbExp=4; IntAct=EBI-750589, EBI-750589;
CC P30039; P15884: TCF4; NbExp=3; IntAct=EBI-750589, EBI-533224;
CC P30039; Q15645: TRIP13; NbExp=4; IntAct=EBI-750589, EBI-358993;
CC P30039; Q08AM6: VAC14; NbExp=3; IntAct=EBI-750589, EBI-2107455;
CC P30039; Q9UGI0: ZRANB1; NbExp=4; IntAct=EBI-750589, EBI-527853;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P30039-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P30039-2; Sequence=VSP_053822;
CC -!- SIMILARITY: Belongs to the PhzF family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB55285.1; Type=Frameshift; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK027673; BAB55285.1; ALT_FRAME; mRNA.
DR EMBL; AC016395; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471083; EAW54274.1; -; Genomic_DNA.
DR EMBL; CH471083; EAW54273.1; -; Genomic_DNA.
DR EMBL; BC009738; AAH09738.1; -; mRNA.
DR EMBL; AB049758; BAB16606.1; -; mRNA.
DR CCDS; CCDS44413.1; -. [P30039-2]
DR CCDS; CCDS7277.2; -. [P30039-1]
DR RefSeq; NP_001028255.1; NM_001033083.1. [P30039-2]
DR RefSeq; NP_071412.2; NM_022129.3. [P30039-1]
DR RefSeq; XP_005270085.1; XM_005270028.3. [P30039-1]
DR AlphaFoldDB; P30039; -.
DR SMR; P30039; -.
DR BioGRID; 122047; 22.
DR IntAct; P30039; 13.
DR STRING; 9606.ENSP00000351619; -.
DR iPTMnet; P30039; -.
DR PhosphoSitePlus; P30039; -.
DR BioMuta; PBLD; -.
DR DMDM; 17380331; -.
DR SWISS-2DPAGE; P30039; -.
DR EPD; P30039; -.
DR jPOST; P30039; -.
DR MassIVE; P30039; -.
DR MaxQB; P30039; -.
DR PaxDb; P30039; -.
DR PeptideAtlas; P30039; -.
DR PRIDE; P30039; -.
DR ProteomicsDB; 10356; -.
DR ProteomicsDB; 54618; -. [P30039-1]
DR Antibodypedia; 28440; 255 antibodies from 23 providers.
DR DNASU; 64081; -.
DR Ensembl; ENST00000309049.8; ENSP00000308466.4; ENSG00000108187.16. [P30039-1]
DR Ensembl; ENST00000358769.7; ENSP00000351619.2; ENSG00000108187.16. [P30039-1]
DR Ensembl; ENST00000495025.2; ENSP00000476306.1; ENSG00000108187.16. [P30039-2]
DR GeneID; 64081; -.
DR KEGG; hsa:64081; -.
DR MANE-Select; ENST00000358769.7; ENSP00000351619.2; NM_022129.4; NP_071412.2.
DR UCSC; uc001jnr.1; human. [P30039-1]
DR CTD; 64081; -.
DR DisGeNET; 64081; -.
DR GeneCards; PBLD; -.
DR HGNC; HGNC:23301; PBLD.
DR HPA; ENSG00000108187; Group enriched (intestine, kidney, liver).
DR MIM; 612189; gene.
DR neXtProt; NX_P30039; -.
DR OpenTargets; ENSG00000108187; -.
DR PharmGKB; PA162398821; -.
DR VEuPathDB; HostDB:ENSG00000108187; -.
DR eggNOG; KOG3033; Eukaryota.
DR GeneTree; ENSGT00390000017595; -.
DR HOGENOM; CLU_048756_2_0_1; -.
DR InParanoid; P30039; -.
DR OMA; DWALRWF; -.
DR PhylomeDB; P30039; -.
DR TreeFam; TF314596; -.
DR PathwayCommons; P30039; -.
DR SignaLink; P30039; -.
DR BioGRID-ORCS; 64081; 16 hits in 1077 CRISPR screens.
DR ChiTaRS; PBLD; human.
DR GenomeRNAi; 64081; -.
DR Pharos; P30039; Tbio.
DR PRO; PR:P30039; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P30039; protein.
DR Bgee; ENSG00000108187; Expressed in nephron tubule and 171 other tissues.
DR ExpressionAtlas; P30039; baseline and differential.
DR Genevisible; P30039; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0016853; F:isomerase activity; IBA:GO_Central.
DR GO; GO:0009058; P:biosynthetic process; IEA:InterPro.
DR GO; GO:0030277; P:maintenance of gastrointestinal epithelium; IMP:UniProtKB.
DR GO; GO:0060392; P:negative regulation of SMAD protein signal transduction; IGI:UniProtKB.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IMP:UniProtKB.
DR InterPro; IPR003719; Phenazine_PhzF.
DR PANTHER; PTHR13774; PTHR13774; 1.
DR Pfam; PF02567; PhzC-PhzF; 1.
DR PIRSF; PIRSF016184; PhzC_PhzF; 1.
DR TIGRFAMs; TIGR00654; PhzF_family; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Direct protein sequencing; Isomerase;
KW Reference proteome.
FT CHAIN 1..288
FT /note="Phenazine biosynthesis-like domain-containing
FT protein"
FT /id="PRO_0000162383"
FT ACT_SITE 46
FT /evidence="ECO:0000250"
FT VAR_SEQ 252..288
FT /note="AFQCSHRGGELGISLRPDGRVDIRGGAAVVLEGTLTA -> GRTALYQFLFY
FT LPNSKLVFLLICTIPLKM (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_053822"
FT VARIANT 17
FT /note="R -> C (in dbSNP:rs12359690)"
FT /evidence="ECO:0000269|PubMed:15806103"
FT /id="VAR_022684"
FT VARIANT 62
FT /note="S -> I (in dbSNP:rs756247151)"
FT /evidence="ECO:0000269|PubMed:22068589"
FT /id="VAR_072403"
FT VARIANT 257
FT /note="H -> R (in dbSNP:rs4142048)"
FT /evidence="ECO:0000269|PubMed:15806103"
FT /id="VAR_022685"
FT CONFLICT 12..13
FT /note="TA -> NV (in Ref. 6; AA sequence)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 288 AA; 31785 MW; AF79ECB704E6D62F CRC64;
MKLPIFIADA FTARAFRGNP AAVCLLENEL DEDMHQKIAR EMNLSETAFI RKLHPTDNFA
QSSCFGLRWF TPASEVPLCG HATLASAAVL FHKIKNMNST LTFVTLSGEL RARRAEDGIV
LDLPLYPAHP QDFHEVEDLI KTAIGNTLVQ DICYSPDTQK LLVRLSDVYN RSFLENLKVN
TENLLQVENT GKVKGLILTL KGEPGGQTQA FDFYSRYFAP WVGVAEDPVT GSAHAVLSSY
WSQHLGKKEM HAFQCSHRGG ELGISLRPDG RVDIRGGAAV VLEGTLTA