TM263_HUMAN
ID TM263_HUMAN Reviewed; 116 AA.
AC Q8WUH6; B3KMN9;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Transmembrane protein 263;
GN Name=TMEM263 {ECO:0000312|HGNC:HGNC:28281}; Synonyms=C12orf23;
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].
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 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
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 [5]
RP POSSIBLE INVOLVEMENT IN SKELETAL DYSPLASIA, AND PUTATIVE FUNCTION.
RX PubMed=34238371; DOI=10.1186/s40246-021-00343-2;
RA Mohajeri M.S.A., Eslahi A., Khazaii Z., Moradi M.R., Pazhoomand R.,
RA Farrokhi S., Feizabadi M.H., Alizadeh F., Mojarrad M.;
RT "TMEM263: a novel candidate gene implicated in human autosomal recessive
RT severe lethal skeletal dysplasia.";
RL Hum. Genomics 15:42-42(2021).
CC -!- FUNCTION: May play a role in bone development.
CC {ECO:0000269|PubMed:34238371}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- DISEASE: Note=Defect in TMEM263 has been found in a fetus with severe
CC lethal skeletal dysplasia. The homozygous frameshift mutation found in
CC this fetus results in the creation of a premature stop codon at Lys-68.
CC {ECO:0000269|PubMed:34238371}.
CC -!- SIMILARITY: Belongs to the TMEM263 family. {ECO:0000305}.
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DR EMBL; AK021783; BAG51051.1; -; mRNA.
DR EMBL; AK022770; BAG51112.1; -; mRNA.
DR EMBL; AK024021; BAG51252.1; -; mRNA.
DR EMBL; CH471054; EAW97790.1; -; Genomic_DNA.
DR EMBL; BC020522; AAH20522.1; -; mRNA.
DR CCDS; CCDS9110.1; -.
DR RefSeq; NP_001306590.1; NM_001319661.1.
DR RefSeq; NP_001306591.1; NM_001319662.1.
DR RefSeq; NP_001306592.1; NM_001319663.1.
DR RefSeq; NP_001306593.1; NM_001319664.1.
DR RefSeq; NP_001306595.1; NM_001319666.1.
DR RefSeq; NP_689474.1; NM_152261.3.
DR AlphaFoldDB; Q8WUH6; -.
DR BioGRID; 124723; 130.
DR IntAct; Q8WUH6; 24.
DR STRING; 9606.ENSP00000280756; -.
DR ChEMBL; CHEMBL4295908; -.
DR TCDB; 8.A.101.1.1; the tmem263 (tmem263) family.
DR GlyGen; Q8WUH6; 5 sites, 1 O-linked glycan (4 sites).
DR iPTMnet; Q8WUH6; -.
DR PhosphoSitePlus; Q8WUH6; -.
DR SwissPalm; Q8WUH6; -.
DR BioMuta; TMEM263; -.
DR DMDM; 74730713; -.
DR EPD; Q8WUH6; -.
DR jPOST; Q8WUH6; -.
DR MassIVE; Q8WUH6; -.
DR MaxQB; Q8WUH6; -.
DR PaxDb; Q8WUH6; -.
DR PeptideAtlas; Q8WUH6; -.
DR PRIDE; Q8WUH6; -.
DR ProteomicsDB; 74677; -.
DR TopDownProteomics; Q8WUH6; -.
DR Antibodypedia; 48264; 49 antibodies from 11 providers.
DR DNASU; 90488; -.
DR Ensembl; ENST00000280756.9; ENSP00000280756.4; ENSG00000151135.10.
DR Ensembl; ENST00000547081.1; ENSP00000449106.1; ENSG00000151135.10.
DR Ensembl; ENST00000547242.5; ENSP00000446537.1; ENSG00000151135.10.
DR Ensembl; ENST00000548125.5; ENSP00000449785.1; ENSG00000151135.10.
DR Ensembl; ENST00000550344.5; ENSP00000446717.1; ENSG00000151135.10.
DR Ensembl; ENST00000551813.1; ENSP00000450350.1; ENSG00000151135.10.
DR GeneID; 90488; -.
DR KEGG; hsa:90488; -.
DR MANE-Select; ENST00000280756.9; ENSP00000280756.4; NM_152261.4; NP_689474.1.
DR UCSC; uc001tmb.4; human.
DR CTD; 90488; -.
DR DisGeNET; 90488; -.
DR GeneCards; TMEM263; -.
DR HGNC; HGNC:28281; TMEM263.
DR HPA; ENSG00000151135; Low tissue specificity.
DR neXtProt; NX_Q8WUH6; -.
DR OpenTargets; ENSG00000151135; -.
DR PharmGKB; PA142672295; -.
DR VEuPathDB; HostDB:ENSG00000151135; -.
DR eggNOG; ENOG502S1YC; Eukaryota.
DR GeneTree; ENSGT00390000013899; -.
DR HOGENOM; CLU_131259_1_0_1; -.
DR InParanoid; Q8WUH6; -.
DR OMA; EDMPAYH; -.
DR OrthoDB; 1600476at2759; -.
DR PhylomeDB; Q8WUH6; -.
DR TreeFam; TF333298; -.
DR PathwayCommons; Q8WUH6; -.
DR SignaLink; Q8WUH6; -.
DR BioGRID-ORCS; 90488; 8 hits in 1075 CRISPR screens.
DR ChiTaRS; TMEM263; human.
DR GenomeRNAi; 90488; -.
DR Pharos; Q8WUH6; Tdark.
DR PRO; PR:Q8WUH6; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8WUH6; protein.
DR Bgee; ENSG00000151135; Expressed in tibia and 193 other tissues.
DR ExpressionAtlas; Q8WUH6; baseline and differential.
DR Genevisible; Q8WUH6; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR028153; UPF0444.
DR PANTHER; PTHR31443; PTHR31443; 1.
DR Pfam; PF15475; UPF0444; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..116
FT /note="Transmembrane protein 263"
FT /id="PRO_0000263629"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 2
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 116 AA; 11748 MW; A40412A1683989FF CRC64;
MNQTDKNQQE IPSYLNDEPP EGSMKDHPQQ QPGMLSRVTG GIFSVTKGAV GATIGGVAWI
GGKSLEVTKT AVTTVPSMGI GLVKGGVSAV AGGVTAVGSA VVNKVPLTGK KKDKSD
