SMIM4_HUMAN
ID SMIM4_HUMAN Reviewed; 70 AA.
AC Q8WVI0;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 02-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Small integral membrane protein 4 {ECO:0000305};
GN Name=SMIM4 {ECO:0000303|PubMed:34969438, ECO:0000312|HGNC:HGNC:37257};
GN Synonyms=C3orf78 {ECO:0000312|HGNC:HGNC:37257};
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
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 AND BRAWNIN.
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) assembly.
CC {ECO:0000269|PubMed:34969438}.
CC -!- SUBUNIT: Associates with the mitochondrial ribosome (PubMed:34969438).
CC Interacts with BRAWNIN (PubMed:34969438). Interacts with MT-CYB;
CC interacts with newly synthesizes MT-CYB (PubMed:34969438).
CC {ECO:0000269|PubMed:34969438}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:34969438}; Single-pass membrane protein
CC {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the SMIM4 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH17996.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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; AC112215; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC017996; AAH17996.1; ALT_INIT; mRNA.
DR CCDS; CCDS46844.1; -.
DR RefSeq; NP_001118239.1; NM_001124767.1.
DR AlphaFoldDB; Q8WVI0; -.
DR SMR; Q8WVI0; -.
DR BioGRID; 137030; 3.
DR IntAct; Q8WVI0; 1.
DR STRING; 9606.ENSP00000417806; -.
DR iPTMnet; Q8WVI0; -.
DR PhosphoSitePlus; Q8WVI0; -.
DR BioMuta; SMIM4; -.
DR EPD; Q8WVI0; -.
DR jPOST; Q8WVI0; -.
DR MassIVE; Q8WVI0; -.
DR MaxQB; Q8WVI0; -.
DR PaxDb; Q8WVI0; -.
DR PeptideAtlas; Q8WVI0; -.
DR PRIDE; Q8WVI0; -.
DR ProteomicsDB; 74795; -.
DR TopDownProteomics; Q8WVI0; -.
DR Antibodypedia; 64270; 40 antibodies from 7 providers.
DR DNASU; 440957; -.
DR Ensembl; ENST00000477703.6; ENSP00000417806.1; ENSG00000168273.8.
DR GeneID; 440957; -.
DR KEGG; hsa:440957; -.
DR MANE-Select; ENST00000477703.6; ENSP00000417806.1; NM_001124767.2; NP_001118239.1.
DR UCSC; uc003dep.3; human.
DR CTD; 440957; -.
DR DisGeNET; 440957; -.
DR GeneCards; SMIM4; -.
DR HGNC; HGNC:37257; SMIM4.
DR HPA; ENSG00000168273; Tissue enhanced (adrenal gland, skeletal muscle).
DR neXtProt; NX_Q8WVI0; -.
DR OpenTargets; ENSG00000168273; -.
DR PharmGKB; PA165696922; -.
DR VEuPathDB; HostDB:ENSG00000168273; -.
DR eggNOG; ENOG502S80C; Eukaryota.
DR GeneTree; ENSGT00390000013390; -.
DR HOGENOM; CLU_187276_1_0_1; -.
DR InParanoid; Q8WVI0; -.
DR OMA; GMYRFLP; -.
DR OrthoDB; 1381186at2759; -.
DR PhylomeDB; Q8WVI0; -.
DR TreeFam; TF324402; -.
DR PathwayCommons; Q8WVI0; -.
DR SignaLink; Q8WVI0; -.
DR BioGRID-ORCS; 440957; 12 hits in 1069 CRISPR screens.
DR ChiTaRS; SMIM4; human.
DR GenomeRNAi; 440957; -.
DR Pharos; Q8WVI0; Tdark.
DR PRO; PR:Q8WVI0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8WVI0; protein.
DR Bgee; ENSG00000168273; Expressed in left adrenal gland cortex and 128 other tissues.
DR ExpressionAtlas; Q8WVI0; baseline and differential.
DR Genevisible; Q8WVI0; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR028183; UPF0640.
DR PANTHER; PTHR35250; PTHR35250; 1.
DR Pfam; PF15114; UPF0640; 1.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..70
FT /note="Small integral membrane protein 4"
FT /id="PRO_0000349243"
FT TOPO_DOM 1..19
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000305|PubMed:34969438"
FT TRANSMEM 20..41
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 42..70
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000305|PubMed:34969438"
SQ SEQUENCE 70 AA; 8696 MW; A7169DB86C6E111A CRC64;
MFTRAQVRRI LQRVPGKQRF GIYRFLPFFF VLGGTMEWIM IKVRVGQETF YDVYRRKASE
RQYQRRLEDE