MOSMO_HUMAN
ID MOSMO_HUMAN Reviewed; 167 AA.
AC Q8NHV5; H3BNM6;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 3.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Modulator of smoothened protein {ECO:0000312|HGNC:HGNC:27087};
DE AltName: Full=Attenuator of hedgehog {ECO:0000250|UniProtKB:Q8C784};
GN Name=MOSMO {ECO:0000312|HGNC:HGNC:27087};
GN Synonyms=ATTHOG {ECO:0000250|UniProtKB:Q8C784},
GN C16orf52 {ECO:0000312|HGNC:HGNC:27087};
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 GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 -!- FUNCTION: Acts as a negative regulator of hedgehog signaling probably
CC by promoting internalization and subsequent degradation of smoothened
CC protein (SMO) present in the ciliary membrane. Plays a role in sonic
CC hedgehog (SHH)-induced spinal neural progenitor cells differentiation.
CC {ECO:0000250|UniProtKB:Q8C784}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane; Multi-pass
CC membrane protein {ECO:0000250|UniProtKB:Q8C784}. Cell membrane; Multi-
CC pass membrane protein {ECO:0000250|UniProtKB:Q8C784}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NHV5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NHV5-3; Sequence=VSP_054465, VSP_054466;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; AC009019; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092119; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC027604; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC053950; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS58431.1; -. [Q8NHV5-1]
DR RefSeq; NP_001158051.1; NM_001164579.1. [Q8NHV5-1]
DR RefSeq; XP_006726675.1; XM_006726612.3.
DR AlphaFoldDB; Q8NHV5; -.
DR STRING; 9606.ENSP00000454926; -.
DR GlyGen; Q8NHV5; 1 site.
DR iPTMnet; Q8NHV5; -.
DR PhosphoSitePlus; Q8NHV5; -.
DR BioMuta; C16orf52; -.
DR DMDM; 122063373; -.
DR MassIVE; Q8NHV5; -.
DR PaxDb; Q8NHV5; -.
DR PeptideAtlas; Q8NHV5; -.
DR PRIDE; Q8NHV5; -.
DR ProteomicsDB; 41242; -.
DR ProteomicsDB; 73765; -. [Q8NHV5-1]
DR DNASU; 730094; -.
DR Ensembl; ENST00000331057.8; ENSP00000454543.1; ENSG00000185716.12. [Q8NHV5-3]
DR Ensembl; ENST00000542527.7; ENSP00000454926.1; ENSG00000185716.12. [Q8NHV5-1]
DR GeneID; 730094; -.
DR KEGG; hsa:730094; -.
DR MANE-Select; ENST00000542527.7; ENSP00000454926.1; NM_001164579.2; NP_001158051.1.
DR UCSC; uc002dkd.3; human. [Q8NHV5-1]
DR CTD; 730094; -.
DR GeneCards; MOSMO; -.
DR HGNC; HGNC:27087; MOSMO.
DR HPA; ENSG00000185716; Low tissue specificity.
DR neXtProt; NX_Q8NHV5; -.
DR OpenTargets; ENSG00000185716; -.
DR VEuPathDB; HostDB:ENSG00000185716; -.
DR eggNOG; ENOG502R4TC; Eukaryota.
DR GeneTree; ENSGT00390000018266; -.
DR HOGENOM; CLU_111296_0_0_1; -.
DR InParanoid; Q8NHV5; -.
DR OMA; VCFTPDL; -.
DR OrthoDB; 1466125at2759; -.
DR PhylomeDB; Q8NHV5; -.
DR TreeFam; TF324757; -.
DR PathwayCommons; Q8NHV5; -.
DR BioGRID-ORCS; 730094; 12 hits in 1072 CRISPR screens.
DR ChiTaRS; MOSMO; human.
DR Pharos; Q8NHV5; Tdark.
DR PRO; PR:Q8NHV5; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8NHV5; protein.
DR Bgee; ENSG00000185716; Expressed in pancreatic ductal cell and 193 other tissues.
DR ExpressionAtlas; Q8NHV5; baseline and differential.
DR Genevisible; Q8NHV5; HS.
DR GO; GO:0060170; C:ciliary membrane; ISS:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0045879; P:negative regulation of smoothened signaling pathway; ISS:UniProtKB.
DR GO; GO:0045664; P:regulation of neuron differentiation; ISS:UniProtKB.
DR GO; GO:0031647; P:regulation of protein stability; ISS:UniProtKB.
DR InterPro; IPR037663; Mosmo.
DR PANTHER; PTHR31186; PTHR31186; 1.
DR Pfam; PF18800; Atthog; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Cell projection; Differentiation;
KW Glycoprotein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..167
FT /note="Modulator of smoothened protein"
FT /id="PRO_0000271082"
FT TRANSMEM 7..29
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 101..121
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 139..159
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 135
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 36..38
FT /note="GAL -> VSP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054465"
FT VAR_SEQ 39..167
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054466"
SQ SEQUENCE 167 AA; 18250 MW; 8159F69DBEBF1F47 CRC64;
MDKLTIISGC LFLAADIFAI ASIANPDWIN TGESAGALTV GLVRQCQTIH GRDRTCIPPR
LPPEWVTTLF FIIMGIISLT VTCGLLVASH WRREATKYAR WIAFTGMILF CMAALIFPIG
FYINEVGGQP YKLPNNTVVG SSYVLFVLSI FFTIVGLLFA GKVCLPG
