TM248_HUMAN
ID TM248_HUMAN Reviewed; 314 AA.
AC Q9NWD8; Q53H07; Q96FR2;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Transmembrane protein 248;
GN Name=TMEM248; Synonyms=C7orf42;
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).
RC TISSUE=Embryo;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, Colon, and 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).
CC -!- INTERACTION:
CC Q9NWD8; Q86W74-2: ANKRD46; NbExp=3; IntAct=EBI-10314986, EBI-12109402;
CC Q9NWD8; Q15041: ARL6IP1; NbExp=3; IntAct=EBI-10314986, EBI-714543;
CC Q9NWD8; Q6PL45-2: BRICD5; NbExp=3; IntAct=EBI-10314986, EBI-12244618;
CC Q9NWD8; O14523: C2CD2L; NbExp=3; IntAct=EBI-10314986, EBI-12822627;
CC Q9NWD8; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-10314986, EBI-12003442;
CC Q9NWD8; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-10314986, EBI-12256978;
CC Q9NWD8; Q92520: FAM3C; NbExp=3; IntAct=EBI-10314986, EBI-2876774;
CC Q9NWD8; O00155: GPR25; NbExp=3; IntAct=EBI-10314986, EBI-10178951;
CC Q9NWD8; O60883: GPR37L1; NbExp=3; IntAct=EBI-10314986, EBI-2927498;
CC Q9NWD8; Q14416: GRM2; NbExp=3; IntAct=EBI-10314986, EBI-10232876;
CC Q9NWD8; O95214: LEPROTL1; NbExp=3; IntAct=EBI-10314986, EBI-750776;
CC Q9NWD8; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-10314986, EBI-2820517;
CC Q9NWD8; P21145: MAL; NbExp=3; IntAct=EBI-10314986, EBI-3932027;
CC Q9NWD8; Q13021: MALL; NbExp=3; IntAct=EBI-10314986, EBI-750078;
CC Q9NWD8; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-10314986, EBI-8636004;
CC Q9NWD8; Q8TB61: SLC35B2; NbExp=3; IntAct=EBI-10314986, EBI-1054782;
CC Q9NWD8; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-10314986, EBI-12266234;
CC Q9NWD8; Q8N205: SYNE4; NbExp=3; IntAct=EBI-10314986, EBI-7131783;
CC Q9NWD8; Q8N2H4: SYS1; NbExp=3; IntAct=EBI-10314986, EBI-13075176;
CC Q9NWD8; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-10314986, EBI-348587;
CC Q9NWD8; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-10314986, EBI-11528917;
CC Q9NWD8; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-10314986, EBI-2548832;
CC Q9NWD8; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-10314986, EBI-11988865;
CC Q9NWD8; Q6UX27-3: VSTM1; NbExp=3; IntAct=EBI-10314986, EBI-12190699;
CC Q9NWD8; O95070: YIF1A; NbExp=3; IntAct=EBI-10314986, EBI-2799703;
CC Q9NWD8; Q9Y548: YIPF1; NbExp=3; IntAct=EBI-10314986, EBI-7850136;
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=Q9NWD8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NWD8-2; Sequence=VSP_026736, VSP_026737;
CC -!- SIMILARITY: Belongs to the TMEM248 family. {ECO:0000305}.
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DR EMBL; AK000961; BAA91444.1; -; mRNA.
DR EMBL; AK222774; BAD96494.1; -; mRNA.
DR EMBL; CH236961; EAL23731.1; -; Genomic_DNA.
DR EMBL; BC008675; AAH08675.1; -; mRNA.
DR EMBL; BC010519; AAH10519.1; -; mRNA.
DR EMBL; BC012562; AAH12562.1; -; mRNA.
DR EMBL; BC041764; AAH41764.1; -; mRNA.
DR CCDS; CCDS5536.1; -. [Q9NWD8-1]
DR RefSeq; NP_060464.1; NM_017994.4. [Q9NWD8-1]
DR RefSeq; XP_005250539.1; XM_005250482.3. [Q9NWD8-1]
DR AlphaFoldDB; Q9NWD8; -.
DR BioGRID; 120386; 49.
DR IntAct; Q9NWD8; 45.
DR MINT; Q9NWD8; -.
DR STRING; 9606.ENSP00000340668; -.
DR GlyGen; Q9NWD8; 2 sites.
DR iPTMnet; Q9NWD8; -.
DR PhosphoSitePlus; Q9NWD8; -.
DR BioMuta; TMEM248; -.
DR DMDM; 74734652; -.
DR EPD; Q9NWD8; -.
DR jPOST; Q9NWD8; -.
DR MassIVE; Q9NWD8; -.
DR MaxQB; Q9NWD8; -.
DR PaxDb; Q9NWD8; -.
DR PeptideAtlas; Q9NWD8; -.
DR PRIDE; Q9NWD8; -.
DR ProteomicsDB; 82927; -. [Q9NWD8-1]
DR ProteomicsDB; 82928; -. [Q9NWD8-2]
DR Antibodypedia; 3083; 64 antibodies from 16 providers.
DR DNASU; 55069; -.
DR Ensembl; ENST00000341567.8; ENSP00000340668.4; ENSG00000106609.16. [Q9NWD8-1]
DR Ensembl; ENST00000433271.6; ENSP00000405558.2; ENSG00000106609.16. [Q9NWD8-2]
DR GeneID; 55069; -.
DR KEGG; hsa:55069; -.
DR MANE-Select; ENST00000341567.8; ENSP00000340668.4; NM_017994.5; NP_060464.1.
DR UCSC; uc003tvk.4; human. [Q9NWD8-1]
DR CTD; 55069; -.
DR DisGeNET; 55069; -.
DR GeneCards; TMEM248; -.
DR HGNC; HGNC:25476; TMEM248.
DR HPA; ENSG00000106609; Low tissue specificity.
DR neXtProt; NX_Q9NWD8; -.
DR OpenTargets; ENSG00000106609; -.
DR PharmGKB; PA147358581; -.
DR VEuPathDB; HostDB:ENSG00000106609; -.
DR eggNOG; ENOG502R6D8; Eukaryota.
DR GeneTree; ENSGT00940000153883; -.
DR HOGENOM; CLU_080742_0_0_1; -.
DR InParanoid; Q9NWD8; -.
DR OMA; DYNPLWC; -.
DR OrthoDB; 1623112at2759; -.
DR PhylomeDB; Q9NWD8; -.
DR TreeFam; TF331542; -.
DR PathwayCommons; Q9NWD8; -.
DR SignaLink; Q9NWD8; -.
DR BioGRID-ORCS; 55069; 18 hits in 1082 CRISPR screens.
DR ChiTaRS; TMEM248; human.
DR GenomeRNAi; 55069; -.
DR Pharos; Q9NWD8; Tdark.
DR PRO; PR:Q9NWD8; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9NWD8; protein.
DR Bgee; ENSG00000106609; Expressed in secondary oocyte and 198 other tissues.
DR ExpressionAtlas; Q9NWD8; baseline and differential.
DR Genevisible; Q9NWD8; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR039493; TMEM248/TMEM219.
DR InterPro; IPR039587; TMEM248/TMEM219_dom.
DR PANTHER; PTHR16002; PTHR16002; 1.
DR Pfam; PF14940; TMEM219; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..314
FT /note="Transmembrane protein 248"
FT /id="PRO_0000295126"
FT TRANSMEM 21..41
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..199
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 236..258
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 270..290
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 78..106
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 200..203
FT /note="QPPH -> MTVH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026736"
FT VAR_SEQ 204..314
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026737"
FT CONFLICT 195
FT /note="F -> L (in Ref. 2; BAD96494)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 314 AA; 35052 MW; B701BDC9B269C1BB CRC64;
MFSINPLENL KVYISSRPPL VVFMISVSAM AIAFLTLGYF FKIKEIKSPE MAEDWNTFLL
RFNDLDLCVS ENETLKHLTN DTTTPESTMT SGQARASTQS PQALEDSGPV NISVSITLTL
DPLKPFGGYS RNVTHLYSTI LGHQIGLSGR EAHEEINITF TLPTAWSSDD CALHGHCEQV
VFTACMTLTA SPGVFPVTVQ PPHCVPDTYS NATLWYKIFT TARDANTKYA QDYNPFWCYK
GAIGKVYHAL NPKLTVIVPD DDRSLINLHL MHTSYFLFVM VITMFCYAVI KGRPSKLRQS
NPEFCPEKVA LAEA
