SSUH2_DANRE
ID SSUH2_DANRE Reviewed; 361 AA.
AC Q08C76; A0A0R4IG68; F1QCJ3;
DT 10-MAY-2017, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2017, sequence version 2.
DT 03-AUG-2022, entry version 79.
DE RecName: Full=Protein SSUH2 homolog {ECO:0000250|UniProtKB:Q9Y2M2};
DE AltName: Full=Protein ssu-2 homolog;
GN Name=ssuh2 {ECO:0000250|UniProtKB:Q9Y2M2};
GN Synonyms=ssuh2rs1 {ECO:0000312|ZFIN:ZDB-GENE-060929-994};
GN ORFNames=zgc:153440;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Larval eye;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
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 -!- DEVELOPMENTAL STAGE: Expressed in the developing ceratobranchials and
CC abdomen from 3 to 6 dpf. {ECO:0000269|PubMed:27680507}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein results in
CC increased incidence of agomphosis (absence of teeth).
CC {ECO:0000269|PubMed:27680507}.
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DR EMBL; BX469901; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC124353; AAI24354.1; -; mRNA.
DR RefSeq; NP_001070126.1; NM_001076658.1.
DR AlphaFoldDB; Q08C76; -.
DR SMR; Q08C76; -.
DR STRING; 7955.ENSDARP00000086779; -.
DR Ensembl; ENSDART00000092347; ENSDARP00000086779; ENSDARG00000063292.
DR Ensembl; ENSDART00000192380; ENSDARP00000151445; ENSDARG00000063292.
DR GeneID; 767720; -.
DR KEGG; dre:767720; -.
DR CTD; 767720; -.
DR ZFIN; ZDB-GENE-060929-994; ssuh2rs1.
DR eggNOG; KOG2813; Eukaryota.
DR GeneTree; ENSGT00940000163873; -.
DR OrthoDB; 1140288at2759; -.
DR PhylomeDB; Q08C76; -.
DR TreeFam; TF320855; -.
DR PRO; PR:Q08C76; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 8.
DR Bgee; ENSDARG00000063292; Expressed in larva and 26 other tissues.
DR ExpressionAtlas; Q08C76; baseline.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0042476; P:odontogenesis; IMP:ZFIN.
DR InterPro; IPR036410; HSP_DnaJ_Cys-rich_dom_sf.
DR InterPro; IPR033271; SSUH2.
DR PANTHER; PTHR15852:SF49; PTHR15852:SF49; 1.
DR SUPFAM; SSF57938; SSF57938; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..361
FT /note="Protein SSUH2 homolog"
FT /id="PRO_0000439812"
FT CONFLICT 222
FT /note="S -> T (in Ref. 2; AAI24354)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 361 AA; 39475 MW; D271D2707ED0F614 CRC64;
MSASPAANTF GASAPPANMF DTVPGYEGTL AGGGGGYLPP PMPSVPMPVP EQAPHPPDWH
IPSISEERAR EAFATYVSSN CCYSSGPVTD GVITNMQSFN TYRYRLETFT ESRSTEWSQE
PYSGQPVDAG VQPAPGPWQI AAQPPPFFQD QKQAIKVPFT SSIKNCHVCL GMGNKPCTTC
AGAGNKVCWV CNGSGSRLND ERCSHCNGQG RENCSSCSGN GSSQCDTCHG KRQLIVFINL
NVKWSTEKED FVAQDLSGLK VEKLEKVSGK ELFKDSQFMV YPVMGFPDAS VAQASQRIVR
DHQTKFAQTS RILQQRQTIE LIPVTKVNYT WKGNPYVYYV YGNEFEVNAE DYPATCCCSV
M
