SSUH2_HUMAN
ID SSUH2_HUMAN Reviewed; 375 AA.
AC Q9Y2M2; A6NFA9; B3KS84; B7Z6E3; F5H2S5; Q7Z7K4;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Protein SSUH2 homolog {ECO:0000305};
DE AltName: Full=Protein ssu-2 homolog;
GN Name=SSUH2 {ECO:0000312|HGNC:HGNC:24809}; Synonyms=C3orf32;
GN ORFNames=FLS485;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RA Nezu J.;
RT "Fetal gene fls485 preferentially expressed in hepatoma.";
RL Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta, and 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].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
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.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Liver;
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 [6]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=20205943; DOI=10.1186/1471-230x-10-27;
RA Reinartz A., Ehling J., Franz S., Simon V., Bravo I.G., Tessmer C.,
RA Zentgraf H., Lyer S., Schneider U., Koster J., Raupach K., Kammerer E.,
RA Klaus C., Tischendorf J.J., Kopitz J., Alonso A., Gassler N.;
RT "Small intestinal mucosa expression of putative chaperone fls485.";
RL BMC Gastroenterol. 10:27-27(2010).
RN [7]
RP INVOLVEMENT IN DENTIN DYSPLASIA, VARIANT DENTIN DYSPLASIA GLN-140,
RP SUBCELLULAR LOCATION, FUNCTION, AND TISSUE SPECIFICITY.
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 -!- INTERACTION:
CC Q9Y2M2-2; P49639: HOXA1; NbExp=5; IntAct=EBI-12231891, EBI-740785;
CC Q9Y2M2-2; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-12231891, EBI-739909;
CC Q9Y2M2-2; P78424: POU6F2; NbExp=3; IntAct=EBI-12231891, EBI-12029004;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20205943}. Nucleus
CC {ECO:0000269|PubMed:27680507}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2;
CC IsoId=Q9Y2M2-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9Y2M2-1; Sequence=VSP_061238;
CC Name=3;
CC IsoId=Q9Y2M2-3; Sequence=VSP_061237;
CC -!- TISSUE SPECIFICITY: Expressed in enterocytes of small and large
CC intestinal mucosa (at protein level). Expressed in chromaffine and
CC interstitial cells. Expressed in peripheral blood and gingival cells
CC (PubMed:27680507). {ECO:0000269|PubMed:20205943,
CC ECO:0000269|PubMed:27680507}.
CC -!- DISEASE: Note=Defects in SSUH2 are associated with dentin dysplasia, a
CC genetic disorder characterized by severe tooth hypermobility, short
CC dental roots, and obliterated pulp chambers.
CC {ECO:0000269|PubMed:27680507}.
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DR EMBL; AB024705; BAA76932.1; -; mRNA.
DR EMBL; AK093066; BAG52646.1; -; mRNA.
DR EMBL; AK300175; BAH13229.1; -; mRNA.
DR EMBL; AC034187; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC068312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW63941.1; -; Genomic_DNA.
DR EMBL; BC052614; AAH52614.1; -; mRNA.
DR CCDS; CCDS2568.1; -. [Q9Y2M2-3]
DR CCDS; CCDS58815.1; -. [Q9Y2M2-2]
DR PIR; T44500; T44500.
DR RefSeq; NP_001243677.1; NM_001256748.1. [Q9Y2M2-2]
DR RefSeq; NP_001243678.1; NM_001256749.1.
DR RefSeq; NP_057015.1; NM_015931.2. [Q9Y2M2-1]
DR RefSeq; XP_016862027.1; XM_017006538.1. [Q9Y2M2-1]
DR RefSeq; XP_016862028.1; XM_017006539.1. [Q9Y2M2-1]
DR RefSeq; XP_016862029.1; XM_017006540.1. [Q9Y2M2-1]
DR RefSeq; XP_016862030.1; XM_017006541.1. [Q9Y2M2-1]
DR RefSeq; XP_016862031.1; XM_017006542.1. [Q9Y2M2-1]
DR AlphaFoldDB; Q9Y2M2; -.
DR BioGRID; 119257; 216.
DR IntAct; Q9Y2M2; 5.
DR MINT; Q9Y2M2; -.
DR STRING; 9606.ENSP00000439378; -.
DR iPTMnet; Q9Y2M2; -.
DR PhosphoSitePlus; Q9Y2M2; -.
DR BioMuta; SSUH2; -.
DR DMDM; 74721317; -.
DR MassIVE; Q9Y2M2; -.
DR PaxDb; Q9Y2M2; -.
DR PeptideAtlas; Q9Y2M2; -.
DR PRIDE; Q9Y2M2; -.
DR ProteomicsDB; 26057; -.
DR ProteomicsDB; 85843; -. [Q9Y2M2-1]
DR Antibodypedia; 53444; 69 antibodies from 11 providers.
DR DNASU; 51066; -.
DR Ensembl; ENST00000317371.8; ENSP00000324551.4; ENSG00000125046.16. [Q9Y2M2-1]
DR Ensembl; ENST00000341795.7; ENSP00000339150.3; ENSG00000125046.16. [Q9Y2M2-1]
DR Ensembl; ENST00000544814.7; ENSP00000439378.1; ENSG00000125046.16. [Q9Y2M2-2]
DR GeneID; 51066; -.
DR KEGG; hsa:51066; -.
DR MANE-Select; ENST00000544814.7; ENSP00000439378.1; NM_001256748.3; NP_001243677.1.
DR UCSC; uc003bqu.5; human. [Q9Y2M2-2]
DR CTD; 51066; -.
DR DisGeNET; 51066; -.
DR GeneCards; SSUH2; -.
DR HGNC; HGNC:24809; SSUH2.
DR HPA; ENSG00000125046; Tissue enhanced (intestine, testis).
DR MalaCards; SSUH2; -.
DR MIM; 617479; gene.
DR neXtProt; NX_Q9Y2M2; -.
DR OpenTargets; ENSG00000125046; -.
DR Orphanet; 99789; Dentin dysplasia type I.
DR PharmGKB; PA142672393; -.
DR VEuPathDB; HostDB:ENSG00000125046; -.
DR eggNOG; KOG2813; Eukaryota.
DR GeneTree; ENSGT00440000038003; -.
DR HOGENOM; CLU_044550_2_0_1; -.
DR InParanoid; Q9Y2M2; -.
DR OMA; YKENQMT; -.
DR OrthoDB; 1140288at2759; -.
DR PhylomeDB; Q9Y2M2; -.
DR TreeFam; TF320855; -.
DR PathwayCommons; Q9Y2M2; -.
DR SignaLink; Q9Y2M2; -.
DR BioGRID-ORCS; 51066; 9 hits in 1069 CRISPR screens.
DR ChiTaRS; SSUH2; human.
DR GenomeRNAi; 51066; -.
DR Pharos; Q9Y2M2; Tbio.
DR PRO; PR:Q9Y2M2; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9Y2M2; protein.
DR Bgee; ENSG00000125046; Expressed in sperm and 106 other tissues.
DR ExpressionAtlas; Q9Y2M2; baseline and differential.
DR Genevisible; Q9Y2M2; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA: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; IPR033271; SSUH2.
DR PANTHER; PTHR15852:SF7; PTHR15852:SF7; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disease variant; Nucleus;
KW Reference proteome.
FT CHAIN 1..375
FT /note="Protein SSUH2 homolog"
FT /id="PRO_0000260082"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 3)"
FT /id="VSP_061237"
FT VAR_SEQ 1..69
FT /note="MDRDLNEDDSVVDLSFEAESPLAPPTELLERLPSYDWLLQGGRGQIFFPPLE
FT APGRPQEQRSWPSFLEH -> MPSPVGLLRALPLPWPQFLACTLRRLAGPRESTGPSQK
FT PPPLCSVPC (in isoform 1)"
FT /id="VSP_061238"
FT VARIANT 50
FT /note="P -> L (in dbSNP:rs2276800)"
FT /id="VAR_033659"
FT VARIANT 140
FT /note="P -> Q (probable disease-associated variant found in
FT patients with dentin dysplasia; decreased protein
FT abundance; no effect on nuclear localization;
FT dbSNP:rs140981580)"
FT /evidence="ECO:0000269|PubMed:27680507"
FT /id="VAR_078099"
FT CONFLICT 243
FT /note="E -> G (in Ref. 2; BAH13229)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 375 AA; 42732 MW; D5B84353A89786CC CRC64;
MDRDLNEDDS VVDLSFEAES PLAPPTELLE RLPSYDWLLQ GGRGQIFFPP LEAPGRPQEQ
RSWPSFLEHR VPAMTEEVAR EALLSFVDSK CCYSSTVAGD LVIQELKRQT LCRYRLETFS
ESRISEWTFQ PFTNHSVDGP QRGASPRLWD IKVQGPPMFQ EDTRKFQVPH SSLVKECHKC
HGRGRYKCSG CHGAGTVRCP SCCGAKRKAK QSRRCQLCAG SGRRRCSTCS GRGNKTCATC
KGEKKLLHFI QLVIMWKNSL FEFVSEHRLN CPRELLAKAK GENLFKDENS VVYPIVDFPL
RDISLASQRG IAEHSAALAS RARVLQQRQT IELIPLTEVH YWYQGKTYVY YIYGTDHQVY
AVDYPERYCC GCTIV
