UFSP1_HUMAN
ID UFSP1_HUMAN Reviewed; 142 AA.
AC Q6NVU6; A4D2E4; A8K8V2; B6ZDG6; Q9BXP6;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Inactive Ufm1-specific protease 1;
DE Short=UfSP1;
GN Name=UFSP1;
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 [GENOMIC DNA].
RX PubMed=11239002; DOI=10.1093/nar/29.6.1352;
RA Wilson M.D., Riemer C., Martindale D.W., Schnupf P., Boright A.P.,
RA Cheung T.L., Hardy D.M., Schwartz S., Scherer S.W., Tsui L.-C., Miller W.,
RA Koop B.F.;
RT "Comparative analysis of the gene-dense ACHE/TFR2 region on human
RT chromosome 7q22 with the orthologous region on mouse chromosome 5.";
RL Nucleic Acids Res. 29:1352-1365(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-47.
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT VAL-47.
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].
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 -!- INTERACTION:
CC Q6NVU6; Q5SWW7: C10orf55; NbExp=3; IntAct=EBI-12068150, EBI-12809220;
CC Q6NVU6; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-12068150, EBI-7062247;
CC Q6NVU6; Q96AQ7: CIDEC; NbExp=3; IntAct=EBI-12068150, EBI-14151404;
CC Q6NVU6; Q9Y2V7: COG6; NbExp=3; IntAct=EBI-12068150, EBI-3866319;
CC Q6NVU6; Q02930-3: CREB5; NbExp=3; IntAct=EBI-12068150, EBI-10192698;
CC Q6NVU6; P33240: CSTF2; NbExp=3; IntAct=EBI-12068150, EBI-711360;
CC Q6NVU6; Q8WU58: FAM222B; NbExp=3; IntAct=EBI-12068150, EBI-2807642;
CC Q6NVU6; Q9NW38: FANCL; NbExp=3; IntAct=EBI-12068150, EBI-2339898;
CC Q6NVU6; O75593: FOXH1; NbExp=3; IntAct=EBI-12068150, EBI-1759806;
CC Q6NVU6; Q12951-2: FOXI1; NbExp=3; IntAct=EBI-12068150, EBI-12018822;
CC Q6NVU6; Q8IVS8: GLYCTK; NbExp=3; IntAct=EBI-12068150, EBI-748515;
CC Q6NVU6; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-12068150, EBI-347538;
CC Q6NVU6; P35680: HNF1B; NbExp=3; IntAct=EBI-12068150, EBI-2798841;
CC Q6NVU6; P31274: HOXC9; NbExp=3; IntAct=EBI-12068150, EBI-1779423;
CC Q6NVU6; Q9ULV5-2: HSF4; NbExp=3; IntAct=EBI-12068150, EBI-12056251;
CC Q6NVU6; Q0VD86: INCA1; NbExp=3; IntAct=EBI-12068150, EBI-6509505;
CC Q6NVU6; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-12068150, EBI-11992140;
CC Q6NVU6; Q14847-2: LASP1; NbExp=3; IntAct=EBI-12068150, EBI-9088686;
CC Q6NVU6; Q8IXL7-2: MSRB3; NbExp=3; IntAct=EBI-12068150, EBI-10699187;
CC Q6NVU6; Q8TDC0: MYOZ3; NbExp=3; IntAct=EBI-12068150, EBI-5662487;
CC Q6NVU6; P78337: PITX1; NbExp=3; IntAct=EBI-12068150, EBI-748265;
CC Q6NVU6; Q99697-2: PITX2; NbExp=3; IntAct=EBI-12068150, EBI-12138495;
CC Q6NVU6; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-12068150, EBI-1389308;
CC Q6NVU6; P78424: POU6F2; NbExp=3; IntAct=EBI-12068150, EBI-12029004;
CC Q6NVU6; O75360: PROP1; NbExp=3; IntAct=EBI-12068150, EBI-9027467;
CC Q6NVU6; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-12068150, EBI-11987469;
CC Q6NVU6; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-12068150, EBI-6257312;
CC Q6NVU6; Q92922: SMARCC1; NbExp=3; IntAct=EBI-12068150, EBI-355653;
CC Q6NVU6; P09234: SNRPC; NbExp=3; IntAct=EBI-12068150, EBI-766589;
CC Q6NVU6; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-12068150, EBI-742688;
CC Q6NVU6; O15119: TBX3; NbExp=3; IntAct=EBI-12068150, EBI-3452216;
CC Q6NVU6; Q9NQB0-10: TCF7L2; NbExp=3; IntAct=EBI-12068150, EBI-11746252;
CC Q6NVU6; O43711: TLX3; NbExp=3; IntAct=EBI-12068150, EBI-3939165;
CC Q6NVU6; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-12068150, EBI-947187;
CC Q6NVU6; Q08AM6: VAC14; NbExp=3; IntAct=EBI-12068150, EBI-2107455;
CC Q6NVU6; Q9UIW0: VAX2; NbExp=3; IntAct=EBI-12068150, EBI-12090999;
CC Q6NVU6; A8MV65-2: VGLL3; NbExp=3; IntAct=EBI-12068150, EBI-11957216;
CC Q6NVU6; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-12068150, EBI-2559305;
CC Q6NVU6; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-12068150, EBI-12040603;
CC Q6NVU6; Q15915: ZIC1; NbExp=3; IntAct=EBI-12068150, EBI-11963196;
CC -!- SIMILARITY: Belongs to the peptidase C78 family. {ECO:0000305}.
CC -!- CAUTION: Although strongly related to the Ufm1-specific proteases, it
CC is shorter in N-terminus and lacks the conserved Cys active site,
CC suggesting that it is probably catalytically inactive. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAL23814.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AF312032; AAK21004.1; -; Genomic_DNA.
DR EMBL; AK292467; BAF85156.1; -; mRNA.
DR EMBL; CH236956; EAL23814.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC011895; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC067904; AAH67904.1; -; mRNA.
DR CCDS; CCDS34710.1; -.
DR RefSeq; NP_001015072.2; NM_001015072.3.
DR AlphaFoldDB; Q6NVU6; -.
DR SMR; Q6NVU6; -.
DR BioGRID; 135544; 53.
DR IntAct; Q6NVU6; 40.
DR STRING; 9606.ENSP00000373413; -.
DR MEROPS; C78.001; -.
DR iPTMnet; Q6NVU6; -.
DR PhosphoSitePlus; Q6NVU6; -.
DR BioMuta; UFSP1; -.
DR DMDM; 296452856; -.
DR EPD; Q6NVU6; -.
DR MassIVE; Q6NVU6; -.
DR MaxQB; Q6NVU6; -.
DR PaxDb; Q6NVU6; -.
DR PeptideAtlas; Q6NVU6; -.
DR PRIDE; Q6NVU6; -.
DR ProteomicsDB; 66720; -.
DR Antibodypedia; 16700; 26 antibodies from 14 providers.
DR DNASU; 402682; -.
DR Ensembl; ENST00000388761.4; ENSP00000373413.2; ENSG00000176125.7.
DR GeneID; 402682; -.
DR KEGG; hsa:402682; -.
DR MANE-Select; ENST00000388761.4; ENSP00000373413.2; NM_001015072.4; NP_001015072.2.
DR UCSC; uc003uxc.4; human.
DR CTD; 402682; -.
DR DisGeNET; 402682; -.
DR GeneCards; UFSP1; -.
DR HGNC; HGNC:33821; UFSP1.
DR HPA; ENSG00000176125; Low tissue specificity.
DR MIM; 611481; gene.
DR neXtProt; NX_Q6NVU6; -.
DR OpenTargets; ENSG00000176125; -.
DR PharmGKB; PA162408522; -.
DR VEuPathDB; HostDB:ENSG00000176125; -.
DR eggNOG; KOG2433; Eukaryota.
DR GeneTree; ENSGT00940000162936; -.
DR HOGENOM; CLU_1815130_0_0_1; -.
DR InParanoid; Q6NVU6; -.
DR OMA; QTLCSWP; -.
DR OrthoDB; 444004at2759; -.
DR PhylomeDB; Q6NVU6; -.
DR PathwayCommons; Q6NVU6; -.
DR SignaLink; Q6NVU6; -.
DR BioGRID-ORCS; 402682; 20 hits in 1071 CRISPR screens.
DR GenomeRNAi; 402682; -.
DR Pharos; Q6NVU6; Tdark.
DR PRO; PR:Q6NVU6; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6NVU6; protein.
DR Bgee; ENSG00000176125; Expressed in hindlimb stylopod muscle and 92 other tissues.
DR ExpressionAtlas; Q6NVU6; baseline and differential.
DR Genevisible; Q6NVU6; HS.
DR InterPro; IPR012462; Peptidase_C78_UfSP1/2.
DR Pfam; PF07910; Peptidase_C78; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..142
FT /note="Inactive Ufm1-specific protease 1"
FT /id="PRO_0000280360"
FT VARIANT 47
FT /note="L -> V (in dbSNP:rs12666989)"
FT /evidence="ECO:0000269|PubMed:12690205,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_031125"
SQ SEQUENCE 142 AA; 15060 MW; 9D42E879A1D3315A CRC64;
MGDKPPGFRG SRDWIGCVEA SLCLAHFGGP QGRLCHVPRG VGLHGELERL YSHFAGGGGP
VMVGGDADAR SKALLGVCVG SGTEAYVLVL DPHYWGTPKS PSELQAAGWV GWQEVSAAFD
PNSFYNLCLT SLSSQQQQRT LD
