UMAD1_HUMAN
ID UMAD1_HUMAN Reviewed; 137 AA.
AC C9J7I0; A4D104;
DT 26-NOV-2014, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 2.
DT 03-AUG-2022, entry version 78.
DE RecName: Full=UBAP1-MVB12-associated (UMA)-domain containing protein 1 {ECO:0000312|HGNC:HGNC:48955};
DE AltName: Full=RPA3 antisense RNA 1 {ECO:0000312|HGNC:HGNC:48955};
DE AltName: Full=RPA3 opposite strand {ECO:0000312|HGNC:HGNC:48955};
GN Name=UMAD1 {ECO:0000312|HGNC:HGNC:48955};
GN Synonyms=RPA3-AS1 {ECO:0000312|HGNC:HGNC:48955},
GN RPA3OS {ECO:0000312|HGNC:HGNC:48955};
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].
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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC TISSUE=Caudate nucleus;
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
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.
CC -!- INTERACTION:
CC C9J7I0; Q9H0R8: GABARAPL1; NbExp=3; IntAct=EBI-10989060, EBI-746969;
CC C9J7I0; P07101-3: TH; NbExp=3; IntAct=EBI-10989060, EBI-12001016;
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DR EMBL; AK295253; BAG58242.1; -; mRNA.
DR EMBL; AC004948; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006042; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006465; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007161; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC009473; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF458367; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF511046; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236948; EAL24303.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93606.1; -; Genomic_DNA.
DR CCDS; CCDS83158.1; -.
DR RefSeq; NP_001289277.1; NM_001302348.1.
DR RefSeq; NP_001289278.1; NM_001302349.1.
DR AlphaFoldDB; C9J7I0; -.
DR BioGRID; 610246; 13.
DR IntAct; C9J7I0; 11.
DR PhosphoSitePlus; C9J7I0; -.
DR BioMuta; UMAD1; -.
DR EPD; C9J7I0; -.
DR jPOST; C9J7I0; -.
DR MassIVE; C9J7I0; -.
DR MaxQB; C9J7I0; -.
DR PaxDb; C9J7I0; -.
DR PeptideAtlas; C9J7I0; -.
DR PRIDE; C9J7I0; -.
DR ProteomicsDB; 601; -.
DR DNASU; 729852; -.
DR Ensembl; ENST00000636849.1; ENSP00000489648.1; ENSG00000219545.12.
DR Ensembl; ENST00000682710.1; ENSP00000507605.1; ENSG00000219545.12.
DR GeneID; 729852; -.
DR KEGG; hsa:729852; -.
DR MANE-Select; ENST00000682710.1; ENSP00000507605.1; NM_001302348.2; NP_001289277.1.
DR CTD; 729852; -.
DR DisGeNET; 729852; -.
DR GeneCards; UMAD1; -.
DR HGNC; HGNC:48955; UMAD1.
DR HPA; ENSG00000219545; Low tissue specificity.
DR neXtProt; NX_C9J7I0; -.
DR OpenTargets; ENSG00000219545; -.
DR VEuPathDB; HostDB:ENSG00000219545; -.
DR eggNOG; ENOG502S575; Eukaryota.
DR GeneTree; ENSGT00390000003051; -.
DR OMA; RDINHNL; -.
DR OrthoDB; 1522376at2759; -.
DR TreeFam; TF335997; -.
DR PathwayCommons; C9J7I0; -.
DR SignaLink; C9J7I0; -.
DR BioGRID-ORCS; 729852; 0 hits in 149 CRISPR screens.
DR ChiTaRS; UMAD1; human.
DR GenomeRNAi; 729852; -.
DR Pharos; C9J7I0; Tdark.
DR PRO; PR:C9J7I0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; C9J7I0; protein.
DR Bgee; ENSG00000219545; Expressed in body of pancreas and 178 other tissues.
DR ExpressionAtlas; C9J7I0; baseline and differential.
DR InterPro; IPR023340; UMA.
DR PROSITE; PS51497; UMA; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..137
FT /note="UBAP1-MVB12-associated (UMA)-domain containing
FT protein 1"
FT /id="PRO_0000431388"
FT DOMAIN 86..134
FT /note="UMA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00830"
FT REGION 1..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..17
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 41..72
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 137 AA; 15200 MW; BD85FC03B5AF255B CRC64;
MFHFFRKPPE SKKPSVPETE ADGFVLLGDT TDEQRMTARG KTSDIEANQP LETNKENSSS
VTVSDPEMEN KAGQTLENSS LMAELLSDVP FTLAPHVLAV QGTITDLPDH LLSYDGSENL
SRFWYDFTLE NSVLCDS
