TM223_HUMAN
ID TM223_HUMAN Reviewed; 202 AA.
AC A0PJW6; Q504S0; Q86YD4; Q8WUC5; Q96HG0;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 09-JAN-2007, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Transmembrane protein 223 {ECO:0000305};
GN Name=TMEM223 {ECO:0000303|PubMed:34969438, ECO:0000312|HGNC:HGNC:28464};
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-28.
RC TISSUE=Colon, Hippocampus, and Lung;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, AND INTERACTION WITH
RP MITOCHONDRIAL RIBOSOME.
RX PubMed=34969438; DOI=10.7554/elife.68213;
RA Dennerlein S., Poerschke S., Oeljeklaus S., Wang C., Richter-Dennerlein R.,
RA Sattmann J., Bauermeister D., Hanitsch E., Stoldt S., Langer T., Jakobs S.,
RA Warscheid B., Rehling P.;
RT "Defining the interactome of the human mitochondrial ribosome identifies
RT SMIM4 and TMEM223 as respiratory chain assembly factors.";
RL Elife 10:0-0(2021).
CC -!- FUNCTION: Mitochondrial ribosome-associated protein involved in the
CC first steps of cytochrome c oxidase complex (complex IV) biogenesis
CC (PubMed:34969438). Stimulates the translation of MT-CO1 mRNA and is a
CC constituent of early MT-CO1 assembly intermediates (PubMed:34969438).
CC {ECO:0000269|PubMed:34969438}.
CC -!- SUBUNIT: Associates with the mitochondrial ribosome.
CC {ECO:0000269|PubMed:34969438}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:34969438}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the TMEM223 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH20914.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; CH471076; EAW74102.1; -; Genomic_DNA.
DR EMBL; BC008643; AAH08643.1; -; mRNA.
DR EMBL; BC020914; AAH20914.1; ALT_INIT; mRNA.
DR EMBL; BC042801; AAH42801.1; -; mRNA.
DR EMBL; BC094837; AAH94837.1; -; mRNA.
DR EMBL; BC127679; AAI27680.1; -; mRNA.
DR CCDS; CCDS44628.1; -.
DR RefSeq; NP_001073970.1; NM_001080501.2.
DR AlphaFoldDB; A0PJW6; -.
DR BioGRID; 122517; 59.
DR IntAct; A0PJW6; 34.
DR STRING; 9606.ENSP00000303987; -.
DR TCDB; 8.A.115.1.1; the transmembrane protein 223 (tmem223) family.
DR iPTMnet; A0PJW6; -.
DR PhosphoSitePlus; A0PJW6; -.
DR SwissPalm; A0PJW6; -.
DR BioMuta; TMEM223; -.
DR EPD; A0PJW6; -.
DR jPOST; A0PJW6; -.
DR MassIVE; A0PJW6; -.
DR MaxQB; A0PJW6; -.
DR PaxDb; A0PJW6; -.
DR PeptideAtlas; A0PJW6; -.
DR PRIDE; A0PJW6; -.
DR ProteomicsDB; 64; -.
DR Antibodypedia; 3050; 8 antibodies from 7 providers.
DR DNASU; 79064; -.
DR Ensembl; ENST00000307366.8; ENSP00000303987.7; ENSG00000168569.8.
DR GeneID; 79064; -.
DR KEGG; hsa:79064; -.
DR MANE-Select; ENST00000307366.8; ENSP00000303987.7; NM_001080501.3; NP_001073970.1.
DR UCSC; uc001nve.3; human.
DR CTD; 79064; -.
DR GeneCards; TMEM223; -.
DR HGNC; HGNC:28464; TMEM223.
DR HPA; ENSG00000168569; Low tissue specificity.
DR neXtProt; NX_A0PJW6; -.
DR OpenTargets; ENSG00000168569; -.
DR PharmGKB; PA164726538; -.
DR VEuPathDB; HostDB:ENSG00000168569; -.
DR eggNOG; ENOG502S0RN; Eukaryota.
DR GeneTree; ENSGT00390000012589; -.
DR HOGENOM; CLU_099187_0_0_1; -.
DR InParanoid; A0PJW6; -.
DR OMA; CMAHRDE; -.
DR OrthoDB; 1478337at2759; -.
DR PhylomeDB; A0PJW6; -.
DR TreeFam; TF324862; -.
DR PathwayCommons; A0PJW6; -.
DR SignaLink; A0PJW6; -.
DR BioGRID-ORCS; 79064; 12 hits in 1084 CRISPR screens.
DR ChiTaRS; TMEM223; human.
DR GenomeRNAi; 79064; -.
DR Pharos; A0PJW6; Tdark.
DR PRO; PR:A0PJW6; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; A0PJW6; protein.
DR Bgee; ENSG00000168569; Expressed in mucosa of transverse colon and 93 other tissues.
DR ExpressionAtlas; A0PJW6; baseline and differential.
DR Genevisible; A0PJW6; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0007399; P:nervous system development; IBA:GO_Central.
DR InterPro; IPR026100; Tmem223.
DR InterPro; IPR045325; TMEM70/TMEM186/TMEM223.
DR PANTHER; PTHR14549; PTHR14549; 1.
DR Pfam; PF06979; TMEM70; 1.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..202
FT /note="Transmembrane protein 223"
FT /id="PRO_0000321833"
FT TOPO_DOM 1..43
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000305|PubMed:34969438"
FT TRANSMEM 44..64
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 65..97
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000305|PubMed:34969438"
FT TRANSMEM 98..118
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 119..202
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000305|PubMed:34969438"
FT VARIANT 28
FT /note="T -> A (in dbSNP:rs2584918)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039357"
FT VARIANT 196
FT /note="V -> G (in dbSNP:rs11827177)"
FT /id="VAR_039358"
FT CONFLICT 175
FT /note="R -> S (in Ref. 2; AAH42801)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 202 AA; 22049 MW; A233432FF880DAAC CRC64;
MAAPWRRWPT GLLAVLRPLL TCRPLQGTTL QRDVLLFEHD RGRFFTILGL FCAGQGVFWA
SMAVAAVSRP PVPVQPLDAE VPNRGPFDLR SALWRYGLAV GCGAIGALVL GAGLLFSLRS
VRSVVLRAGG QQVTLTTHAP FGLGAHFTVP LKQVSCMAHR GEVPAMLPLK VKGRRFYFLL
DKTGHFPNTK LFDNTVGAYR SL