SSUH2_MOUSE
ID SSUH2_MOUSE Reviewed; 340 AA.
AC Q8C3L1; Q14AZ1;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Protein SSUH2 homolog {ECO:0000305};
DE AltName: Full=Protein ssu-2 homolog;
GN Name=Ssuh2 {ECO:0000312|MGI:MGI:2443733}; Synonyms=Ssu2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Kidney;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF
RP PRO-141.
RX PubMed=27680507; DOI=10.1002/humu.23130;
RA Xiong F., Ji Z., Liu Y., Zhang Y., Hu L., Yang Q., Qiu Q., Zhao L.,
RA Chen D., Tian Z., Shang X., Zhang L., Wei X., Liu C., Yu Q., Zhang M.,
RA Cheng J., Xiong J., Li D., Wu X., Yuan H., Zhang W., Xu X.;
RT "Mutation in SSUH2 causes autosomal-dominant dentin dysplasia type I.";
RL Hum. Mutat. 38:95-104(2017).
CC -!- FUNCTION: Plays a role in odontogenesis. {ECO:0000269|PubMed:27680507}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Y2M2}. Nucleus
CC {ECO:0000250|UniProtKB:Q9Y2M2}.
CC -!- TISSUE SPECIFICITY: Widely expressed, with highest levels in the liver,
CC intestine, tongue and underjaw. {ECO:0000269|PubMed:27680507}.
CC -!- DEVELOPMENTAL STAGE: In the developing brain, expressed at low levels
CC prior to 15 dpc. Expression increases in the early postnatal stages,
CC peaks at P16, and decreases in adulthood.
CC {ECO:0000269|PubMed:27680507}.
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DR EMBL; AK085578; BAC39477.1; -; mRNA.
DR EMBL; BC116438; AAI16439.1; -; mRNA.
DR EMBL; BC116439; AAI16440.1; -; mRNA.
DR CCDS; CCDS20405.1; -.
DR RefSeq; NP_780734.1; NM_175525.3.
DR RefSeq; XP_006506173.2; XM_006506110.3.
DR AlphaFoldDB; Q8C3L1; -.
DR STRING; 10090.ENSMUSP00000052328; -.
DR iPTMnet; Q8C3L1; -.
DR PhosphoSitePlus; Q8C3L1; -.
DR PaxDb; Q8C3L1; -.
DR PRIDE; Q8C3L1; -.
DR ProteomicsDB; 257423; -.
DR Antibodypedia; 53444; 69 antibodies from 11 providers.
DR Ensembl; ENSMUST00000060847; ENSMUSP00000052328; ENSMUSG00000034387.
DR GeneID; 243612; -.
DR KEGG; mmu:243612; -.
DR UCSC; uc009ddx.1; mouse.
DR CTD; 243612; -.
DR MGI; MGI:2443733; Ssu2.
DR VEuPathDB; HostDB:ENSMUSG00000034387; -.
DR eggNOG; KOG2813; Eukaryota.
DR GeneTree; ENSGT00440000038003; -.
DR HOGENOM; CLU_044550_2_0_1; -.
DR InParanoid; Q8C3L1; -.
DR OrthoDB; 1140288at2759; -.
DR PhylomeDB; Q8C3L1; -.
DR TreeFam; TF320855; -.
DR BioGRID-ORCS; 243612; 0 hits in 71 CRISPR screens.
DR PRO; PR:Q8C3L1; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q8C3L1; protein.
DR Bgee; ENSMUSG00000034387; Expressed in morula and 41 other tissues.
DR ExpressionAtlas; Q8C3L1; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0031072; F:heat shock protein binding; IEA:InterPro.
DR GO; GO:0051082; F:unfolded protein binding; IEA:InterPro.
DR GO; GO:0042476; P:odontogenesis; IMP:UniProtKB.
DR CDD; cd10719; DnaJ_zf; 1.
DR InterPro; IPR001305; HSP_DnaJ_Cys-rich_dom.
DR InterPro; IPR036410; HSP_DnaJ_Cys-rich_dom_sf.
DR InterPro; IPR033271; SSUH2.
DR PANTHER; PTHR15852:SF7; PTHR15852:SF7; 1.
DR SUPFAM; SSF57938; SSF57938; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..340
FT /note="Protein SSUH2 homolog"
FT /id="PRO_0000260083"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 141
FT /note="P->Q: Mice carrying this mutant show narrowed dental
FT pulp cavities, increased dentin thickness, and abnormal
FT tooth attrition, as well as anomalies in the number and
FT organization of dentinal tubules, indicating dysplasia of
FT the mineralized dentin; the width of the predentin zone is
FT reduced in heterozygous animals or null in homozygotes,
FT with significantly increased numbers of odontoblasts in the
FT pulp cavity compared to wild-type mice."
FT /evidence="ECO:0000269|PubMed:27680507"
FT CONFLICT 70
FT /note="Missing (in Ref. 2; AAI16439/AAI16440)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 340 AA; 38544 MW; 90E760355D3F600B CRC64;
MDRDPSEEDS MADLSFEAES PVLPPDELLE GLPSYDWLLQ GRERQVFFPP LEALGRSQEP
ACWSSVLEHS RVPVVTEEVA REALLSFVNS HCCYSSAAAG NLIIQELRQQ TLCRYRLETF
SESRVSEWTF QPVTNHSVDG PQRGTSPRLW DMKVQVPPMF QEDTRKLQVP HSSLVKECHK
CHGRGRYKCS GCHGAGMVRC SSCSGTKRKA KQPRRCHLCS GSGRRRCSTC SGRGNKTCAT
CKGERKLEHF VQLVIMWKNS LFEFMSPHHL HCPKELLAKA RGENLFRDEN ATVYPIVDFP
LQDISLASQR GIEEHSTMLA SRARILQQMF FYSGGPFHHS
