TMM69_HUMAN
ID TMM69_HUMAN Reviewed; 247 AA.
AC Q5SWH9; Q3SWW5; Q7Z2G0; Q9P0P9;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Transmembrane protein 69;
GN Name=TMEM69; Synonyms=C1orf154; ORFNames=HSPC229;
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].
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 [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 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, Lymph, Ovary, Skin, and Uterus;
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).
CC -!- INTERACTION:
CC Q5SWH9; Q13520: AQP6; NbExp=3; IntAct=EBI-17963363, EBI-13059134;
CC Q5SWH9; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-17963363, EBI-8638294;
CC Q5SWH9; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-17963363, EBI-11988865;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF36149.1; Type=Frameshift; 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; AF151063; AAF36149.1; ALT_FRAME; mRNA.
DR EMBL; AL604028; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06954.1; -; Genomic_DNA.
DR EMBL; BC013608; AAH13608.2; -; mRNA.
DR EMBL; BC034147; AAH34147.2; -; mRNA.
DR EMBL; BC039718; AAH39718.2; -; mRNA.
DR EMBL; BC046130; AAH46130.2; -; mRNA.
DR EMBL; BC064539; AAH64539.2; -; mRNA.
DR EMBL; BC073836; AAH73836.2; -; mRNA.
DR EMBL; BC121117; AAI21118.2; -; mRNA.
DR EMBL; BC133692; AAI33693.1; -; mRNA.
DR CCDS; CCDS41325.1; -.
DR RefSeq; NP_057570.2; NM_016486.3.
DR AlphaFoldDB; Q5SWH9; -.
DR BioGRID; 119406; 21.
DR IntAct; Q5SWH9; 3.
DR STRING; 9606.ENSP00000361095; -.
DR iPTMnet; Q5SWH9; -.
DR PhosphoSitePlus; Q5SWH9; -.
DR BioMuta; TMEM69; -.
DR DMDM; 74743934; -.
DR EPD; Q5SWH9; -.
DR jPOST; Q5SWH9; -.
DR MassIVE; Q5SWH9; -.
DR MaxQB; Q5SWH9; -.
DR PaxDb; Q5SWH9; -.
DR PeptideAtlas; Q5SWH9; -.
DR PRIDE; Q5SWH9; -.
DR ProteomicsDB; 63975; -.
DR Antibodypedia; 32710; 28 antibodies from 16 providers.
DR DNASU; 51249; -.
DR Ensembl; ENST00000372025.5; ENSP00000361095.4; ENSG00000159596.7.
DR GeneID; 51249; -.
DR KEGG; hsa:51249; -.
DR MANE-Select; ENST00000372025.5; ENSP00000361095.4; NM_016486.4; NP_057570.2.
DR UCSC; uc001cor.2; human.
DR CTD; 51249; -.
DR DisGeNET; 51249; -.
DR GeneCards; TMEM69; -.
DR HGNC; HGNC:28035; TMEM69.
DR HPA; ENSG00000159596; Low tissue specificity.
DR neXtProt; NX_Q5SWH9; -.
DR OpenTargets; ENSG00000159596; -.
DR PharmGKB; PA142670782; -.
DR VEuPathDB; HostDB:ENSG00000159596; -.
DR eggNOG; ENOG502RYSE; Eukaryota.
DR GeneTree; ENSGT00390000015318; -.
DR HOGENOM; CLU_095371_0_0_1; -.
DR InParanoid; Q5SWH9; -.
DR OMA; PCSFKKQ; -.
DR OrthoDB; 1516042at2759; -.
DR PhylomeDB; Q5SWH9; -.
DR TreeFam; TF336126; -.
DR PathwayCommons; Q5SWH9; -.
DR SignaLink; Q5SWH9; -.
DR BioGRID-ORCS; 51249; 32 hits in 1046 CRISPR screens.
DR GeneWiki; TMEM69; -.
DR GenomeRNAi; 51249; -.
DR Pharos; Q5SWH9; Tdark.
DR PRO; PR:Q5SWH9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5SWH9; protein.
DR Bgee; ENSG00000159596; Expressed in oocyte and 184 other tissues.
DR Genevisible; Q5SWH9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR021836; DUF3429.
DR PANTHER; PTHR15887; PTHR15887; 1.
DR Pfam; PF11911; DUF3429; 1.
PE 1: Evidence at protein level;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..247
FT /note="Transmembrane protein 69"
FT /id="PRO_0000282850"
FT TRANSMEM 97..117
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 122..142
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 159..179
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 185..205
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 216..236
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CONFLICT 12
FT /note="S -> M (in Ref. 1; AAF36149)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 247 AA; 27551 MW; 02A2C30DC7352AD1 CRC64;
MLRFIQKFSQ ASSKILKYSF PVGLRTSRTD ILSLKMSLQQ NFSPCPRPWL SSSFPAYMSK
TQCYHTSPCS FKKQQKQALL ARPSSTITYL TDSPKPALCV TLAGLIPFVA PPLVMLMTKT
YIPILAFTQM AYGASFLSFL GGIRWGFALP EGSPAKPDYL NLASSAAPLF FSWFAFLISE
RLSEAIVTVI MGMGVAFHLE LFLLPHYPNW FKALRIVVTL LATFSFIITL VVKSSFPEKG
HKRPGQV