TMCO4_HUMAN
ID TMCO4_HUMAN Reviewed; 634 AA.
AC Q5TGY1; Q5TGY2; Q6MZN5; Q7Z6K6; Q9UQP4; Q9Y3K1;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Transmembrane and coiled-coil domain-containing protein 4;
GN Name=TMCO4;
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] (ISOFORM 1), AND VARIANT HIS-478.
RC TISSUE=Small intestine;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT HIS-478.
RC TISSUE=Brain;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-421 (ISOFORMS 1 AND 2).
RA Rhodes S.;
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC Q5TGY1; Q9UBQ0-2: VPS29; NbExp=5; IntAct=EBI-6530446, EBI-11141397;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5TGY1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TGY1-2; Sequence=VSP_028242;
CC -!- SIMILARITY: Belongs to the TMCO4 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB42850.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAB42851.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BX640987; CAE45994.1; -; mRNA.
DR EMBL; AL031727; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031730; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC053600; AAH53600.1; -; mRNA.
DR EMBL; AL049846; CAB42850.1; ALT_INIT; mRNA.
DR EMBL; AL049847; CAB42851.1; ALT_INIT; mRNA.
DR CCDS; CCDS198.1; -. [Q5TGY1-1]
DR RefSeq; NP_859070.3; NM_181719.4. [Q5TGY1-1]
DR RefSeq; XP_005245879.1; XM_005245822.4. [Q5TGY1-1]
DR RefSeq; XP_005245881.1; XM_005245824.4.
DR RefSeq; XP_005245884.1; XM_005245827.3. [Q5TGY1-2]
DR RefSeq; XP_011539487.1; XM_011541185.2. [Q5TGY1-1]
DR RefSeq; XP_011539488.1; XM_011541186.2. [Q5TGY1-1]
DR RefSeq; XP_016856402.1; XM_017000913.1. [Q5TGY1-2]
DR RefSeq; XP_016856407.1; XM_017000918.1.
DR RefSeq; XP_016856408.1; XM_017000919.1.
DR RefSeq; XP_016856409.1; XM_017000920.1.
DR AlphaFoldDB; Q5TGY1; -.
DR SMR; Q5TGY1; -.
DR BioGRID; 129076; 11.
DR IntAct; Q5TGY1; 5.
DR MINT; Q5TGY1; -.
DR STRING; 9606.ENSP00000294543; -.
DR ESTHER; human-TMCO4; Duf_726.
DR iPTMnet; Q5TGY1; -.
DR PhosphoSitePlus; Q5TGY1; -.
DR BioMuta; TMCO4; -.
DR DMDM; 74746530; -.
DR EPD; Q5TGY1; -.
DR jPOST; Q5TGY1; -.
DR MassIVE; Q5TGY1; -.
DR MaxQB; Q5TGY1; -.
DR PaxDb; Q5TGY1; -.
DR PeptideAtlas; Q5TGY1; -.
DR PRIDE; Q5TGY1; -.
DR ProteomicsDB; 65131; -. [Q5TGY1-1]
DR ProteomicsDB; 65132; -. [Q5TGY1-2]
DR Antibodypedia; 3034; 78 antibodies from 15 providers.
DR DNASU; 255104; -.
DR Ensembl; ENST00000294543.11; ENSP00000294543.6; ENSG00000162542.14. [Q5TGY1-1]
DR GeneID; 255104; -.
DR KEGG; hsa:255104; -.
DR MANE-Select; ENST00000294543.11; ENSP00000294543.6; NM_181719.7; NP_859070.3.
DR UCSC; uc001bcn.3; human. [Q5TGY1-1]
DR CTD; 255104; -.
DR DisGeNET; 255104; -.
DR GeneCards; TMCO4; -.
DR HGNC; HGNC:27393; TMCO4.
DR HPA; ENSG00000162542; Low tissue specificity.
DR neXtProt; NX_Q5TGY1; -.
DR OpenTargets; ENSG00000162542; -.
DR PharmGKB; PA142670794; -.
DR VEuPathDB; HostDB:ENSG00000162542; -.
DR eggNOG; KOG2385; Eukaryota.
DR GeneTree; ENSGT00390000001400; -.
DR InParanoid; Q5TGY1; -.
DR OMA; EHISWSW; -.
DR OrthoDB; 1281288at2759; -.
DR PhylomeDB; Q5TGY1; -.
DR TreeFam; TF312951; -.
DR PathwayCommons; Q5TGY1; -.
DR SignaLink; Q5TGY1; -.
DR BioGRID-ORCS; 255104; 15 hits in 1071 CRISPR screens.
DR ChiTaRS; TMCO4; human.
DR GenomeRNAi; 255104; -.
DR Pharos; Q5TGY1; Tdark.
DR PRO; PR:Q5TGY1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TGY1; protein.
DR Bgee; ENSG00000162542; Expressed in lower esophagus mucosa and 138 other tissues.
DR ExpressionAtlas; Q5TGY1; baseline and differential.
DR Genevisible; Q5TGY1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR007941; DUF726.
DR PANTHER; PTHR17920; PTHR17920; 1.
DR Pfam; PF05277; DUF726; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..634
FT /note="Transmembrane and coiled-coil domain-containing
FT protein 4"
FT /id="PRO_0000305149"
FT TRANSMEM 203..223
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 231..251
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 346..366
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 542..612
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 150..190
FT /evidence="ECO:0000255"
FT COMPBIAS 551..588
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 254..293
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_028242"
FT VARIANT 72
FT /note="Q -> K (in dbSNP:rs10917536)"
FT /id="VAR_035169"
FT VARIANT 478
FT /note="R -> H (in dbSNP:rs4515815)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_035170"
FT CONFLICT 605
FT /note="P -> S (in Ref. 1; CAE45994)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 634 AA; 67910 MW; 9D2F5E263A9E98E3 CRC64;
MAMWNRPCQR LPQQPLVAEP TAEGEPHLPT GRELTEANRF AYAALCGISL SQLFPEPEHS
SFCTEFMAGL VQWLELSEAV LPTMTAFASG LGGEGADVFV QILLKDPILK DDPTVITQDL
LSFSLKDGHY DARARVLVCH MTSLLQVPLE ELDVLEEMFL ESLKEIKEEE SEMAEASRKK
KENRRKWKRY LLIGLATVGG GTVIGVTGGL AAPLVAAGAA TIIGSAGAAA LGSAAGIAIM
TSLFGAAGAG LTGYKMKKRV GAIEEFTFLP LTEGRQLHIT IAVTGWLASG KYRTFSAPWA
ALAHSREQYC LAWEAKYLME LGNALETILS GLANMVAQEA LKYTVLSGIV AALTWPASLL
SVANVIDNPW GVCLHRSAEV GKHLAHILLS RQQGRRPVTL IGFSLGARVI YFCLQEMAQE
KDCQGIIEDV ILLGAPVEGE AKHWEPFRKV VSGRIINGYC RGDWLLSFVY RTSSVQLRVA
GLQPVLLQDR RVENVDLTSV VSGHLDYAKQ MDAILKAVGI RTKPGWDEKG LLLAPGCLPS
EEPRQAAAAA SSGETPHQVG QTQGPISGDT SKLAMSTDPS QAQVPVGLDQ SEGASLPAAA
SPERPPICSH GMDPNPLGCP DCACKTQGPS TGLD
