SNORC_HUMAN
ID SNORC_HUMAN Reviewed; 121 AA.
AC Q6UX34;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Protein SNORC {ECO:0000303|PubMed:21624478, ECO:0000305};
DE AltName: Full=Secondary ossification center-associated regulator of chondrocyte maturation protein {ECO:0000303|PubMed:21624478, ECO:0000305};
DE Flags: Precursor;
GN Name=SNORC {ECO:0000312|HGNC:HGNC:33763}; Synonyms=C2orf82;
GN ORFNames=UNQ830/PRO1757;
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 MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
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 [3]
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 [4]
RP TISSUE SPECIFICITY.
RX PubMed=21624478; DOI=10.1016/j.joca.2011.04.016;
RA Heinonen J., Taipaleenmaeki H., Roering P., Takatalo M., Harkness L.,
RA Sandholm J., Uusitalo-Jaervinen H., Kassem M., Kiviranta I.,
RA Laitala-Leinonen T., Saeaemaenen A.M.;
RT "Snorc is a novel cartilage specific small membrane proteoglycan expressed
RT in differentiating and articular chondrocytes.";
RL Osteoarthritis Cartilage 19:1026-1035(2011).
CC -!- FUNCTION: Plays a role in the regulation of chondrocyte maturation and
CC postnatal endochondral ossification. May inhibit cell growth
CC stimulation induced by FGF2. {ECO:0000250|UniProtKB:Q9CXL7}.
CC -!- SUBUNIT: Interacts (via the extracellular domain) with FGF2.
CC {ECO:0000250|UniProtKB:Q9CXL7}.
CC -!- INTERACTION:
CC Q6UX34; Q13520: AQP6; NbExp=3; IntAct=EBI-11957067, EBI-13059134;
CC Q6UX34; P19397: CD53; NbExp=3; IntAct=EBI-11957067, EBI-6657396;
CC Q6UX34; Q8N5K1: CISD2; NbExp=3; IntAct=EBI-11957067, EBI-1045797;
CC Q6UX34; Q15125: EBP; NbExp=3; IntAct=EBI-11957067, EBI-3915253;
CC Q6UX34; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-11957067, EBI-18535450;
CC Q6UX34; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-11957067, EBI-781551;
CC Q6UX34; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-11957067, EBI-18304435;
CC Q6UX34; Q8TED1: GPX8; NbExp=3; IntAct=EBI-11957067, EBI-11721746;
CC Q6UX34; P31937: HIBADH; NbExp=3; IntAct=EBI-11957067, EBI-11427100;
CC Q6UX34; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-11957067, EBI-18053395;
CC Q6UX34; P43628: KIR2DL3; NbExp=3; IntAct=EBI-11957067, EBI-8632435;
CC Q6UX34; Q6ZUX7: LHFPL2; NbExp=3; IntAct=EBI-11957067, EBI-17566767;
CC Q6UX34; Q96AG4: LRRC59; NbExp=3; IntAct=EBI-11957067, EBI-358888;
CC Q6UX34; O14880: MGST3; NbExp=3; IntAct=EBI-11957067, EBI-724754;
CC Q6UX34; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-11957067, EBI-18159983;
CC Q6UX34; Q13336-2: SLC14A1; NbExp=3; IntAct=EBI-11957067, EBI-19141793;
CC Q6UX34; Q9BXS9-3: SLC26A6; NbExp=3; IntAct=EBI-11957067, EBI-12814225;
CC Q6UX34; Q9UHI5: SLC7A8; NbExp=3; IntAct=EBI-11957067, EBI-13292283;
CC Q6UX34; Q16623: STX1A; NbExp=3; IntAct=EBI-11957067, EBI-712466;
CC Q6UX34; Q96B21: TMEM45B; NbExp=3; IntAct=EBI-11957067, EBI-3923061;
CC Q6UX34; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-11957067, EBI-2548832;
CC Q6UX34; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-11957067, EBI-12837904;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:Q9CXL7}.
CC Secreted, extracellular space, extracellular matrix
CC {ECO:0000250|UniProtKB:Q9CXL7}. Note=Appears as reticular-like
CC structures throughout the cytoplasm and adjacent to the plasma
CC membrane. In proliferation and hypertrophic chondrocytes, detected
CC intracellulary and in the pericellular extracellular matrix. In primary
CC spongiosa, detected only in the extracellular matrix.
CC {ECO:0000250|UniProtKB:Q9CXL7}.
CC -!- TISSUE SPECIFICITY: Expressed in cartilage.
CC {ECO:0000269|PubMed:21624478}.
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DR EMBL; AY358535; AAQ88899.1; -; mRNA.
DR EMBL; CH471063; EAW71022.1; -; Genomic_DNA.
DR EMBL; BC130307; AAI30308.1; -; mRNA.
DR EMBL; BC130309; AAI30310.1; -; mRNA.
DR CCDS; CCDS2499.1; -.
DR RefSeq; NP_001333049.1; NM_001346120.1.
DR RefSeq; NP_001333051.1; NM_001346122.1.
DR RefSeq; NP_996778.1; NM_206895.2.
DR RefSeq; XP_016859571.1; XM_017004082.1.
DR RefSeq; XP_016859572.1; XM_017004083.1.
DR RefSeq; XP_016859573.1; XM_017004084.1.
DR AlphaFoldDB; Q6UX34; -.
DR BioGRID; 132963; 25.
DR IntAct; Q6UX34; 22.
DR STRING; 9606.ENSP00000386804; -.
DR PhosphoSitePlus; Q6UX34; -.
DR BioMuta; C2orf82; -.
DR DMDM; 74738172; -.
DR PaxDb; Q6UX34; -.
DR PeptideAtlas; Q6UX34; -.
DR PRIDE; Q6UX34; -.
DR Antibodypedia; 65848; 5 antibodies from 5 providers.
DR DNASU; 389084; -.
DR Ensembl; ENST00000331342.4; ENSP00000333208.2; ENSG00000182600.9.
DR Ensembl; ENST00000409230.5; ENSP00000386804.1; ENSG00000182600.9.
DR Ensembl; ENST00000409533.5; ENSP00000387130.1; ENSG00000182600.9.
DR GeneID; 389084; -.
DR KEGG; hsa:389084; -.
DR MANE-Select; ENST00000331342.5; ENSP00000333208.2; NM_001394206.1; NP_001381135.1.
DR UCSC; uc002vtr.1; human.
DR CTD; 389084; -.
DR DisGeNET; 389084; -.
DR GeneCards; SNORC; -.
DR HGNC; HGNC:33763; SNORC.
DR HPA; ENSG00000182600; Tissue enhanced (brain, skin).
DR neXtProt; NX_Q6UX34; -.
DR OpenTargets; ENSG00000182600; -.
DR PharmGKB; PA162379659; -.
DR VEuPathDB; HostDB:ENSG00000182600; -.
DR eggNOG; ENOG502S8U6; Eukaryota.
DR GeneTree; ENSGT00390000008993; -.
DR HOGENOM; CLU_166240_0_0_1; -.
DR InParanoid; Q6UX34; -.
DR OMA; ATAFPPY; -.
DR OrthoDB; 1594988at2759; -.
DR PhylomeDB; Q6UX34; -.
DR TreeFam; TF338619; -.
DR PathwayCommons; Q6UX34; -.
DR SignaLink; Q6UX34; -.
DR BioGRID-ORCS; 389084; 12 hits in 1059 CRISPR screens.
DR ChiTaRS; C2orf82; human.
DR GenomeRNAi; 389084; -.
DR Pharos; Q6UX34; Tdark.
DR PRO; PR:Q6UX34; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6UX34; protein.
DR Bgee; ENSG00000182600; Expressed in spinal cord and 136 other tissues.
DR ExpressionAtlas; Q6UX34; baseline and differential.
DR GO; GO:0071944; C:cell periphery; ISS:UniProtKB.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0051216; P:cartilage development; ISS:UniProtKB.
DR InterPro; IPR031500; SNORC.
DR PANTHER; PTHR28453; PTHR28453; 1.
DR Pfam; PF15756; DUF4690; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Extracellular matrix; Membrane; Reference proteome; Secreted;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..24
FT /evidence="ECO:0000255"
FT CHAIN 25..121
FT /note="Protein SNORC"
FT /id="PRO_0000317641"
FT TOPO_DOM 25..92
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 93..113
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 114..121
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT REGION 28..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 121 AA; 12073 MW; E8AFD93BD421B7EC CRC64;
MASCLALRMA LLLVSGVLAP AVLTDDVPQE PVPTLWNEPA ELPSGEGPVE STSPGREPVD
TGPPAPTVAP GPEDSTAQER LDQGGGSLGP GAIAAIVIAA LLATCVVLAL VVVALRKFSA
S
