TM268_HUMAN
ID TM268_HUMAN Reviewed; 342 AA.
AC Q5VZI3; A0PJA3; Q3KNS4; Q5VZI2; Q6P5Z7; Q8N1P3; Q8ND43;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Transmembrane protein 268 {ECO:0000312|HGNC:HGNC:24513};
GN Name=TMEM268 {ECO:0000312|HGNC:HGNC:24513}; Synonyms=C9orf91;
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=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 59-342 (ISOFORM 3).
RC TISSUE=Brain, and Fetal liver;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-342 (ISOFORM 1).
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VZI3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VZI3-2; Sequence=VSP_023426;
CC Name=3;
CC IsoId=Q5VZI3-3; Sequence=VSP_023427;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04537.1; Type=Erroneous initiation; Note=Truncated 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; AL160275; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX649023; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC019913; AAH19913.1; -; mRNA.
DR EMBL; BC062550; AAH62550.1; -; mRNA.
DR EMBL; BC107133; AAI07134.1; -; mRNA.
DR EMBL; BC107134; AAI07135.1; -; mRNA.
DR EMBL; AL834412; CAD39074.1; -; mRNA.
DR EMBL; AK095364; BAC04537.1; ALT_INIT; mRNA.
DR CCDS; CCDS6808.1; -. [Q5VZI3-1]
DR CCDS; CCDS83405.1; -. [Q5VZI3-3]
DR RefSeq; NP_001317689.1; NM_001330760.1. [Q5VZI3-3]
DR RefSeq; NP_694590.2; NM_153045.3. [Q5VZI3-1]
DR RefSeq; XP_011516657.1; XM_011518355.1. [Q5VZI3-2]
DR AlphaFoldDB; Q5VZI3; -.
DR BioGRID; 128455; 30.
DR IntAct; Q5VZI3; 4.
DR STRING; 9606.ENSP00000288502; -.
DR iPTMnet; Q5VZI3; -.
DR PhosphoSitePlus; Q5VZI3; -.
DR BioMuta; TMEM268; -.
DR DMDM; 74747808; -.
DR EPD; Q5VZI3; -.
DR jPOST; Q5VZI3; -.
DR MassIVE; Q5VZI3; -.
DR MaxQB; Q5VZI3; -.
DR PaxDb; Q5VZI3; -.
DR PeptideAtlas; Q5VZI3; -.
DR PRIDE; Q5VZI3; -.
DR ProteomicsDB; 65698; -. [Q5VZI3-1]
DR ProteomicsDB; 65699; -. [Q5VZI3-2]
DR ProteomicsDB; 65700; -. [Q5VZI3-3]
DR Antibodypedia; 15584; 87 antibodies from 16 providers.
DR DNASU; 203197; -.
DR Ensembl; ENST00000288502.9; ENSP00000288502.4; ENSG00000157693.15. [Q5VZI3-1]
DR Ensembl; ENST00000374049.4; ENSP00000363161.4; ENSG00000157693.15. [Q5VZI3-3]
DR GeneID; 203197; -.
DR KEGG; hsa:203197; -.
DR MANE-Select; ENST00000288502.9; ENSP00000288502.4; NM_153045.4; NP_694590.2.
DR UCSC; uc004bjd.5; human. [Q5VZI3-1]
DR CTD; 203197; -.
DR GeneCards; TMEM268; -.
DR HGNC; HGNC:24513; TMEM268.
DR HPA; ENSG00000157693; Low tissue specificity.
DR neXtProt; NX_Q5VZI3; -.
DR OpenTargets; ENSG00000157693; -.
DR PharmGKB; PA134931542; -.
DR VEuPathDB; HostDB:ENSG00000157693; -.
DR eggNOG; ENOG502R635; Eukaryota.
DR GeneTree; ENSGT00390000011559; -.
DR HOGENOM; CLU_067585_1_0_1; -.
DR InParanoid; Q5VZI3; -.
DR OMA; VPCPCQF; -.
DR OrthoDB; 868229at2759; -.
DR PhylomeDB; Q5VZI3; -.
DR TreeFam; TF353168; -.
DR PathwayCommons; Q5VZI3; -.
DR SignaLink; Q5VZI3; -.
DR BioGRID-ORCS; 203197; 8 hits in 1074 CRISPR screens.
DR ChiTaRS; TMEM268; human.
DR GenomeRNAi; 203197; -.
DR Pharos; Q5VZI3; Tdark.
DR PRO; PR:Q5VZI3; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VZI3; protein.
DR Bgee; ENSG00000157693; Expressed in endothelial cell and 173 other tissues.
DR Genevisible; Q5VZI3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR028054; DUF4481.
DR PANTHER; PTHR31193; PTHR31193; 1.
DR Pfam; PF14800; DUF4481; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..342
FT /note="Transmembrane protein 268"
FT /id="PRO_0000279425"
FT TRANSMEM 105..125
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 132..152
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..30
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..24
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..35
FT /note="MACEPQVDPGATGPLPPSSPGWSALPGGSPPGWGQ -> MVITQPDEASGLL
FT P (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023426"
FT VAR_SEQ 71
FT /note="I -> IQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_023427"
FT CONFLICT 59..62
FT /note="LGAA -> PTRP (in Ref. 4; CAD39074)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 342 AA; 37569 MW; 55900D3077B90A29 CRC64;
MACEPQVDPG ATGPLPPSSP GWSALPGGSP PGWGQELHNG QVLTVLRIDN TCAPISFDLG
AAEEQLQTWG IQVPADQYRS LAESALLEPQ VRRYIIYNSR PMRLAFAVVF YVVVWANIYS
TSQMFALGNH WAGMLLVTLA AVSLTLTLVL VFERHQKKAN TNTDLRLAAA NGALLRHRVL
LGVTDTVEGC QSVIQLWFVY FDLENCVQFL SDHVQEMKTS QESLLRSRLS QLCVVMETGV
SPATAEGPEN LEDAPLLPGN SCPNERPLMQ TELHQLVPEA EPEEMARQLL AVFGGYYIRL
LVTSQLPQAM GTRHTNSPRI PCPCQLIEAY ILGTGCCPFL AR
