PWP3B_HUMAN
ID PWP3B_HUMAN Reviewed; 696 AA.
AC Q5H9M0; D3DUX2; Q49AS5; Q8N2C0; Q96MT6;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=PWWP domain-containing DNA repair factor 3B {ECO:0000305};
DE Short=PWWP3B {ECO:0000305};
DE AltName: Full=Mutated melanoma-associated antigen 1-like protein 1;
DE Short=MUM1-like protein 1;
DE AltName: Full=PWWP domain-containing protein MUM1L1;
GN Name=PWWP3B {ECO:0000312|HGNC:HGNC:26583};
GN Synonyms=MUM1L1 {ECO:0000312|HGNC:HGNC:26583};
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=Amygdala;
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=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 -!- SIMILARITY: Belongs to the PWWP3A family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH31229.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB71194.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK056478; BAB71194.1; ALT_SEQ; mRNA.
DR EMBL; AK090835; BAC03529.1; -; mRNA.
DR EMBL; Z68289; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471120; EAX02743.1; -; Genomic_DNA.
DR EMBL; CH471120; EAX02744.1; -; Genomic_DNA.
DR EMBL; BC031229; AAH31229.1; ALT_FRAME; mRNA.
DR CCDS; CCDS55469.1; -.
DR RefSeq; NP_001164491.1; NM_001171020.1.
DR RefSeq; NP_689636.3; NM_152423.4.
DR RefSeq; XP_005262134.1; XM_005262077.2.
DR RefSeq; XP_011529158.1; XM_011530856.1.
DR RefSeq; XP_011529159.1; XM_011530857.1.
DR RefSeq; XP_016884758.1; XM_017029269.1.
DR AlphaFoldDB; Q5H9M0; -.
DR SMR; Q5H9M0; -.
DR BioGRID; 126552; 6.
DR IntAct; Q5H9M0; 1.
DR STRING; 9606.ENSP00000338641; -.
DR iPTMnet; Q5H9M0; -.
DR PhosphoSitePlus; Q5H9M0; -.
DR BioMuta; MUM1L1; -.
DR DMDM; 74762184; -.
DR jPOST; Q5H9M0; -.
DR MassIVE; Q5H9M0; -.
DR PaxDb; Q5H9M0; -.
DR PeptideAtlas; Q5H9M0; -.
DR PRIDE; Q5H9M0; -.
DR ProteomicsDB; 62899; -.
DR Antibodypedia; 427; 87 antibodies from 20 providers.
DR DNASU; 139221; -.
DR Ensembl; ENST00000337685.6; ENSP00000338641.2; ENSG00000157502.13.
DR Ensembl; ENST00000357175.6; ENSP00000349699.2; ENSG00000157502.13.
DR Ensembl; ENST00000372552.1; ENSP00000361632.1; ENSG00000157502.13.
DR GeneID; 139221; -.
DR KEGG; hsa:139221; -.
DR MANE-Select; ENST00000357175.6; ENSP00000349699.2; NM_001171020.2; NP_001164491.1.
DR UCSC; uc004emf.2; human.
DR CTD; 139221; -.
DR DisGeNET; 139221; -.
DR GeneCards; PWWP3B; -.
DR HGNC; HGNC:26583; PWWP3B.
DR HPA; ENSG00000157502; Tissue enriched (ovary).
DR neXtProt; NX_Q5H9M0; -.
DR OpenTargets; ENSG00000157502; -.
DR PharmGKB; PA134880222; -.
DR VEuPathDB; HostDB:ENSG00000157502; -.
DR eggNOG; ENOG502QPRU; Eukaryota.
DR GeneTree; ENSGT00390000001700; -.
DR HOGENOM; CLU_388271_0_0_1; -.
DR InParanoid; Q5H9M0; -.
DR OMA; KYRKHEG; -.
DR OrthoDB; 339225at2759; -.
DR PhylomeDB; Q5H9M0; -.
DR TreeFam; TF328774; -.
DR PathwayCommons; Q5H9M0; -.
DR SignaLink; Q5H9M0; -.
DR BioGRID-ORCS; 139221; 13 hits in 698 CRISPR screens.
DR ChiTaRS; MUM1L1; human.
DR GenomeRNAi; 139221; -.
DR Pharos; Q5H9M0; Tdark.
DR PRO; PR:Q5H9M0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5H9M0; protein.
DR Bgee; ENSG00000157502; Expressed in left ovary and 139 other tissues.
DR Genevisible; Q5H9M0; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR CDD; cd06080; MUM1_like; 1.
DR InterPro; IPR035504; MUM1-like_PWWP.
DR InterPro; IPR040263; PWP3A/B.
DR PANTHER; PTHR31333; PTHR31333; 1.
PE 2: Evidence at transcript level;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..696
FT /note="PWWP domain-containing DNA repair factor 3B"
FT /id="PRO_0000257832"
FT DOMAIN 392..453
FT /note="PWWP"
FT REGION 119..143
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 278..303
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 128..143
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 288..302
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 128
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q4VA55"
FT VARIANT 95
FT /note="G -> D (in dbSNP:rs12392298)"
FT /id="VAR_057776"
FT CONFLICT 9
FT /note="N -> D (in Ref. 1; BAB71194)"
FT /evidence="ECO:0000305"
FT CONFLICT 296
FT /note="N -> D (in Ref. 1; BAC03529)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 696 AA; 79040 MW; 0B2D3256846FB291 CRC64;
MESEYVLCNW KDQLWPAKVL SRSETSSNSK RKKAFSLEVQ ILSLDEKIKL DSTETKILNK
SQIEAIAASL GLQSEDSAPP TEETAYGRSL KVALGILNER TNLSQASTSD EEEITMLSQN
VPQKQSDSPP HKKYRKDEGD LPGCLEEREN SACLLASSES DDSLYDDKSQ APTMVDTIPS
EVETKSLQNS SWCETFPSLS EDNDEKENKN KIDISAVMSV HSAVKEESAC VKDEKFAPPL
SPLSSDMLIM PKALKEESED TCLETLAVPS ECSAFSENIE DPGEGPSNPC LDTSQNQPSM
ESEMGAAACP GSCSRECEVS FSASNPVWDY SHLMSSERNF QRLDFEELEE EGQASDKSLL
PSRINLSLLD DDEEDEELPR FILHYETHPF ETGMIVWFKY QKYPFWPAVI KSIRRKERKA
SVLFVEANMN SEKKGIRVNF RRLKKFDCKE KQMLVDKARE DYSESIDWCI SLICDYRVRI
GCGSFTGSLL EYYAADISYP VRKETKQDTF RNKFPKLHNE DAREPMAVTS QTKKMSFQKI
LPDRMKAARD RANKNLVDFI VNAKGTENHL LAIVNGTKGS RWLKSFLNAN RFTPCIETYF
EDEDQLDEVV KYLQEVCNQI DQIMPTWIKD DKIKFILEVL LPEAIICSIS AVDGLDYEAA
EAKYLKGPCL GYRERELFDA KIIYEKRRKA PTNEAH
