UNC50_HUMAN
ID UNC50_HUMAN Reviewed; 259 AA.
AC Q53HI1; D3DVH4; Q53S98; Q53TD6; Q5U5U2; Q6X7B9; Q9UQF4; Q9Y4S6;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 2.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Protein unc-50 homolog;
DE AltName: Full=Periodontal ligament-specific protein 22;
DE Short=PDLs22;
DE AltName: Full=Protein GMH1 homolog;
DE Short=hGMH1;
DE AltName: Full=Uncoordinated-like protein;
GN Name=UNC50; Synonyms=UNCL; ORFNames=HSD-23, HSD23;
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].
RA Yu L.;
RL Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RA Wu N., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Coronary artery;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
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 [8]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Lung, Placenta, and 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).
RN [10]
RP IDENTIFICATION.
RX PubMed=10980252; DOI=10.1016/s0006-8993(00)02692-5;
RA Fitzgerald J., Kennedy D., Viseshakul N., Cohen B.N., Mattick J.,
RA Bateman J.F., Forsayeth J.R.;
RT "UNCL, the mammalian homologue of UNC-50, is an inner nuclear membrane RNA-
RT binding protein.";
RL Brain Res. 877:110-123(2000).
RN [11]
RP IDENTIFICATION.
RX PubMed=11302735; DOI=10.1006/bbrc.2001.4694;
RA Park J.-C., Kim Y.-B., Kim H.-J., Jang H.-S., Kim H.-S., Kim B.-O.,
RA Han K.-Y.;
RT "Isolation and characterization of cultured human periodontal ligament
RT fibroblast-specific cDNAs.";
RL Biochem. Biophys. Res. Commun. 282:1145-1153(2001).
RN [12]
RP SUBCELLULAR LOCATION.
RX PubMed=12808035; DOI=10.1091/mbc.e02-10-0693;
RA Chantalat S., Courbeyrette R., Senic-Matuglia F., Jackson C.L., Goud B.,
RA Peyroche A.;
RT "A novel Golgi membrane protein is a partner of the ARF exchange factors
RT Gea1p and Gea2p.";
RL Mol. Biol. Cell 14:2357-2371(2003).
RN [13]
RP TISSUE SPECIFICITY.
RX PubMed=17004066; DOI=10.1007/s00441-006-0304-3;
RA Kim H.-J., Choi Y.S., Jeong M.-J., Kim B.-O., Lim S.-H., Kim D.K.,
RA Kim C.K., Park J.-C.;
RT "Expression of UNCL during development of periodontal tissue and response
RT of periodontal ligament fibroblasts to mechanical stress in vivo and in
RT vitro.";
RL Cell Tissue Res. 327:25-31(2007).
RN [14]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-6, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [16]
RP ACETYLATION AT MET-1.
RX PubMed=25732826; DOI=10.1016/j.celrep.2015.01.053;
RA Aksnes H., Van Damme P., Goris M., Starheim K.K., Marie M., Stoeve S.I.,
RA Hoel C., Kalvik T.V., Hole K., Glomnes N., Furnes C., Ljostveit S.,
RA Ziegler M., Niere M., Gevaert K., Arnesen T.;
RT "An organellar nalpha-acetyltransferase, naa60, acetylates cytosolic N
RT termini of transmembrane proteins and maintains Golgi integrity.";
RL Cell Rep. 10:1362-1374(2015).
CC -!- FUNCTION: Involved in the cell surface expression of neuronal nicotinic
CC receptors (By similarity). Binds RNA (By similarity).
CC {ECO:0000250|UniProtKB:O55227}.
CC -!- INTERACTION:
CC Q53HI1; Q13520: AQP6; NbExp=3; IntAct=EBI-7601760, EBI-13059134;
CC Q53HI1; Q8IUN9: CLEC10A; NbExp=3; IntAct=EBI-7601760, EBI-2873246;
CC Q53HI1; P58418: CLRN1; NbExp=3; IntAct=EBI-7601760, EBI-17274839;
CC Q53HI1; Q6PI48: DARS2; NbExp=3; IntAct=EBI-7601760, EBI-3917045;
CC Q53HI1; Q15125: EBP; NbExp=3; IntAct=EBI-7601760, EBI-3915253;
CC Q53HI1; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-7601760, EBI-18535450;
CC Q53HI1; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-7601760, EBI-781551;
CC Q53HI1; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-7601760, EBI-18304435;
CC Q53HI1; O15552: FFAR2; NbExp=3; IntAct=EBI-7601760, EBI-2833872;
CC Q53HI1; Q8N6M3: FITM2; NbExp=3; IntAct=EBI-7601760, EBI-11722638;
CC Q53HI1; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-7601760, EBI-13345167;
CC Q53HI1; Q8TED1: GPX8; NbExp=3; IntAct=EBI-7601760, EBI-11721746;
CC Q53HI1; Q8NBQ5: HSD17B11; NbExp=3; IntAct=EBI-7601760, EBI-1052304;
CC Q53HI1; Q7Z5P4: HSD17B13; NbExp=3; IntAct=EBI-7601760, EBI-18053395;
CC Q53HI1; P38484: IFNGR2; NbExp=3; IntAct=EBI-7601760, EBI-3905457;
CC Q53HI1; P48051: KCNJ6; NbExp=3; IntAct=EBI-7601760, EBI-12017638;
CC Q53HI1; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-7601760, EBI-11956541;
CC Q53HI1; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-7601760, EBI-373355;
CC Q53HI1; O14880: MGST3; NbExp=3; IntAct=EBI-7601760, EBI-724754;
CC Q53HI1; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-7601760, EBI-3923617;
CC Q53HI1; P15941-11: MUC1; NbExp=3; IntAct=EBI-7601760, EBI-17263240;
CC Q53HI1; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-7601760, EBI-7545592;
CC Q53HI1; Q9NR31: SAR1A; NbExp=3; IntAct=EBI-7601760, EBI-3920694;
CC Q53HI1; O95470: SGPL1; NbExp=3; IntAct=EBI-7601760, EBI-1046170;
CC Q53HI1; Q14973: SLC10A1; NbExp=3; IntAct=EBI-7601760, EBI-3923031;
CC Q53HI1; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-7601760, EBI-18159983;
CC Q53HI1; Q6PL24: TMED8; NbExp=3; IntAct=EBI-7601760, EBI-11603430;
CC Q53HI1; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-7601760, EBI-8638294;
CC Q53HI1; Q9NRX6: TMEM167B; NbExp=3; IntAct=EBI-7601760, EBI-17684533;
CC Q53HI1; Q8WY98: TMEM234; NbExp=3; IntAct=EBI-7601760, EBI-8642211;
CC -!- SUBCELLULAR LOCATION: Nucleus inner membrane
CC {ECO:0000250|UniProtKB:O55227}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:O55227}. Golgi apparatus membrane
CC {ECO:0000269|PubMed:12808035}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:12808035}.
CC -!- TISSUE SPECIFICITY: Present in periodontal ligament fibroblasts (at
CC protein level). {ECO:0000269|PubMed:17004066}.
CC -!- SIMILARITY: Belongs to the unc-50 family. {ECO:0000305}.
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DR EMBL; AY017215; AAK08987.1; -; mRNA.
DR EMBL; AF077038; AAD27771.1; -; mRNA.
DR EMBL; AL080115; CAB45714.1; -; mRNA.
DR EMBL; AY251534; AAP20057.1; -; mRNA.
DR EMBL; CR533464; CAG38495.1; -; mRNA.
DR EMBL; AK222599; BAD96319.1; -; mRNA.
DR EMBL; AC010134; AAX93232.1; -; Genomic_DNA.
DR EMBL; AC064860; AAY14975.1; -; Genomic_DNA.
DR EMBL; CH471127; EAX01900.1; -; Genomic_DNA.
DR EMBL; CH471127; EAX01901.1; -; Genomic_DNA.
DR EMBL; CH471127; EAX01902.1; -; Genomic_DNA.
DR EMBL; BC017019; AAH17019.1; -; mRNA.
DR EMBL; BC025992; AAH25992.1; -; mRNA.
DR EMBL; BC039078; AAH39078.1; -; mRNA.
DR EMBL; BC091481; AAH91481.1; -; mRNA.
DR CCDS; CCDS2035.1; -.
DR PIR; T12451; T12451.
DR RefSeq; NP_054763.2; NM_014044.6.
DR AlphaFoldDB; Q53HI1; -.
DR BioGRID; 117456; 46.
DR IntAct; Q53HI1; 35.
DR MINT; Q53HI1; -.
DR STRING; 9606.ENSP00000350409; -.
DR iPTMnet; Q53HI1; -.
DR PhosphoSitePlus; Q53HI1; -.
DR BioMuta; UNC50; -.
DR DMDM; 160358938; -.
DR EPD; Q53HI1; -.
DR jPOST; Q53HI1; -.
DR MassIVE; Q53HI1; -.
DR MaxQB; Q53HI1; -.
DR PaxDb; Q53HI1; -.
DR PeptideAtlas; Q53HI1; -.
DR PRIDE; Q53HI1; -.
DR ProteomicsDB; 62506; -.
DR Antibodypedia; 17600; 66 antibodies from 21 providers.
DR DNASU; 25972; -.
DR Ensembl; ENST00000357765.7; ENSP00000350409.2; ENSG00000115446.12.
DR GeneID; 25972; -.
DR KEGG; hsa:25972; -.
DR MANE-Select; ENST00000357765.7; ENSP00000350409.2; NM_014044.7; NP_054763.2.
DR UCSC; uc002szc.5; human.
DR CTD; 25972; -.
DR DisGeNET; 25972; -.
DR GeneCards; UNC50; -.
DR HGNC; HGNC:16046; UNC50.
DR HPA; ENSG00000115446; Low tissue specificity.
DR MIM; 617826; gene.
DR neXtProt; NX_Q53HI1; -.
DR OpenTargets; ENSG00000115446; -.
DR PharmGKB; PA134984566; -.
DR VEuPathDB; HostDB:ENSG00000115446; -.
DR eggNOG; KOG3012; Eukaryota.
DR GeneTree; ENSGT00390000018553; -.
DR HOGENOM; CLU_066239_0_0_1; -.
DR InParanoid; Q53HI1; -.
DR OMA; ISTLMWV; -.
DR OrthoDB; 1351297at2759; -.
DR PhylomeDB; Q53HI1; -.
DR TreeFam; TF105624; -.
DR PathwayCommons; Q53HI1; -.
DR SignaLink; Q53HI1; -.
DR BioGRID-ORCS; 25972; 327 hits in 1086 CRISPR screens.
DR ChiTaRS; UNC50; human.
DR GenomeRNAi; 25972; -.
DR Pharos; Q53HI1; Tbio.
DR PRO; PR:Q53HI1; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q53HI1; protein.
DR Bgee; ENSG00000115446; Expressed in palpebral conjunctiva and 202 other tissues.
DR ExpressionAtlas; Q53HI1; baseline and differential.
DR Genevisible; Q53HI1; HS.
DR GO; GO:0030173; C:integral component of Golgi membrane; IBA:GO_Central.
DR GO; GO:0005637; C:nuclear inner membrane; ISS:UniProtKB.
DR GO; GO:0003723; F:RNA binding; ISS:UniProtKB.
DR GO; GO:0034394; P:protein localization to cell surface; ISS:UniProtKB.
DR InterPro; IPR007881; UNC-50.
DR PANTHER; PTHR12841; PTHR12841; 1.
DR Pfam; PF05216; UNC-50; 1.
PE 1: Evidence at protein level;
KW Acetylation; Golgi apparatus; Membrane; Nucleus; Phosphoprotein;
KW Reference proteome; RNA-binding; Transmembrane; Transmembrane helix.
FT CHAIN 1..259
FT /note="Protein unc-50 homolog"
FT /id="PRO_0000308961"
FT TOPO_DOM 1..82
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 104..115
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..136
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 137..163
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 164..184
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 185..187
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 188..208
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 209..222
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 223..243
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 244..259
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0000269|PubMed:25732826,
FT ECO:0007744|PubMed:22814378"
FT MOD_RES 6
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CONFLICT 34
FT /note="Y -> C (in Ref. 4; AAP20057)"
FT /evidence="ECO:0000305"
FT CONFLICT 66
FT /note="N -> S (in Ref. 6; BAD96319)"
FT /evidence="ECO:0000305"
FT CONFLICT 115
FT /note="L -> P (in Ref. 9; AAH39078)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="L -> F (in Ref. 6; BAD96319)"
FT /evidence="ECO:0000305"
FT CONFLICT 173
FT /note="F -> L (in Ref. 1; AAK08987, 3; CAB45714 and 5;
FT CAG38495)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 259 AA; 30373 MW; F0BAF2594B84330B CRC64;
MLPSTSVNSL VQGNGVLNSR DAARHTAGAK RYKYLRRLFR FRQMDFEFAA WQMLYLFTSP
QRVYRNFHYR KQTKDQWARD DPAFLVLLSI WLCVSTIGFG FVLDMGFFET IKLLLWVVLI
DCVGVGLLIA TLMWFISNKY LVKRQSRDYD VEWGYAFDVH LNAFYPLLVI LHFIQLFFIN
HVILTDTFIG YLVGNTLWLV AVGYYIYVTF LGYSALPFLK NTVILLYPFA PLILLYGLSL
ALGWNFTHTL CSFYKYRVK
