CH048_HUMAN
ID CH048_HUMAN Reviewed; 319 AA.
AC Q96LL4; Q96LJ9;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Uncharacterized protein C8orf48;
GN Name=C8orf48;
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 [MRNA], AND VARIANTS PHE-28 AND MET-285.
RC TISSUE=Liver;
RA Xu Z., Liang L., Zhao M., Li T.;
RT "A novel gene located in 8p22.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PHE-28 AND MET-285.
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PHE-28 AND MET-285.
RC TISSUE=Testis;
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 Q96LL4; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-751596, EBI-3866279;
CC Q96LL4; P28329-3: CHAT; NbExp=3; IntAct=EBI-751596, EBI-25837549;
CC Q96LL4; G5E9A7: DMWD; NbExp=3; IntAct=EBI-751596, EBI-10976677;
CC Q96LL4; Q01658: DR1; NbExp=3; IntAct=EBI-751596, EBI-750300;
CC Q96LL4; P22607: FGFR3; NbExp=3; IntAct=EBI-751596, EBI-348399;
CC Q96LL4; Q14957: GRIN2C; NbExp=3; IntAct=EBI-751596, EBI-8285963;
CC Q96LL4; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-751596, EBI-1054873;
CC Q96LL4; P01112: HRAS; NbExp=3; IntAct=EBI-751596, EBI-350145;
CC Q96LL4; P04792: HSPB1; NbExp=3; IntAct=EBI-751596, EBI-352682;
CC Q96LL4; O60333-2: KIF1B; NbExp=3; IntAct=EBI-751596, EBI-10975473;
CC Q96LL4; Q6A162: KRT40; NbExp=3; IntAct=EBI-751596, EBI-10171697;
CC Q96LL4; P23508: MCC; NbExp=3; IntAct=EBI-751596, EBI-307531;
CC Q96LL4; Q99750: MDFI; NbExp=6; IntAct=EBI-751596, EBI-724076;
CC Q96LL4; P07196: NEFL; NbExp=3; IntAct=EBI-751596, EBI-475646;
CC Q96LL4; Q96CV9: OPTN; NbExp=3; IntAct=EBI-751596, EBI-748974;
CC Q96LL4; P60891: PRPS1; NbExp=3; IntAct=EBI-751596, EBI-749195;
CC Q96LL4; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-751596, EBI-396669;
CC Q96LL4; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-751596, EBI-5235340;
CC Q96LL4; Q13148: TARDBP; NbExp=6; IntAct=EBI-751596, EBI-372899;
CC Q96LL4; Q86WV8: TSC1; NbExp=3; IntAct=EBI-751596, EBI-12806590;
CC Q96LL4; O76024: WFS1; NbExp=3; IntAct=EBI-751596, EBI-720609;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71692.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF394908; AAQ02889.1; -; mRNA.
DR EMBL; AK058131; BAB71677.1; -; mRNA.
DR EMBL; AK058156; BAB71692.1; ALT_INIT; mRNA.
DR EMBL; AC022832; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031245; AAH31245.1; -; mRNA.
DR CCDS; CCDS47809.1; -.
DR RefSeq; NP_001007091.1; NM_001007090.2.
DR AlphaFoldDB; Q96LL4; -.
DR BioGRID; 127623; 6.
DR IntAct; Q96LL4; 24.
DR MINT; Q96LL4; -.
DR STRING; 9606.ENSP00000297324; -.
DR iPTMnet; Q96LL4; -.
DR PhosphoSitePlus; Q96LL4; -.
DR BioMuta; C8orf48; -.
DR DMDM; 296434445; -.
DR MassIVE; Q96LL4; -.
DR PaxDb; Q96LL4; -.
DR PeptideAtlas; Q96LL4; -.
DR PRIDE; Q96LL4; -.
DR Antibodypedia; 21009; 100 antibodies from 16 providers.
DR DNASU; 157773; -.
DR Ensembl; ENST00000297324.5; ENSP00000297324.4; ENSG00000164743.5.
DR GeneID; 157773; -.
DR KEGG; hsa:157773; -.
DR MANE-Select; ENST00000297324.5; ENSP00000297324.4; NM_001007090.3; NP_001007091.2.
DR UCSC; uc003wwp.4; human.
DR CTD; 157773; -.
DR GeneCards; C8orf48; -.
DR HGNC; HGNC:26345; C8orf48.
DR HPA; ENSG00000164743; Tissue enhanced (testis).
DR neXtProt; NX_Q96LL4; -.
DR OpenTargets; ENSG00000164743; -.
DR PharmGKB; PA142672367; -.
DR VEuPathDB; HostDB:ENSG00000164743; -.
DR eggNOG; ENOG502S4XK; Eukaryota.
DR GeneTree; ENSGT00390000008508; -.
DR HOGENOM; CLU_073087_0_0_1; -.
DR InParanoid; Q96LL4; -.
DR OMA; AHQDFPR; -.
DR OrthoDB; 1261511at2759; -.
DR PhylomeDB; Q96LL4; -.
DR TreeFam; TF328632; -.
DR PathwayCommons; Q96LL4; -.
DR SignaLink; Q96LL4; -.
DR BioGRID-ORCS; 157773; 12 hits in 1050 CRISPR screens.
DR GenomeRNAi; 157773; -.
DR Pharos; Q96LL4; Tdark.
DR PRO; PR:Q96LL4; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q96LL4; protein.
DR Bgee; ENSG00000164743; Expressed in calcaneal tendon and 100 other tissues.
DR Genevisible; Q96LL4; HS.
DR InterPro; IPR027932; DUF4606.
DR Pfam; PF15379; DUF4606; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..319
FT /note="Uncharacterized protein C8orf48"
FT /id="PRO_0000285631"
FT REGION 21..70
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 21..57
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 28
FT /note="S -> F (in dbSNP:rs13273355)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_063134"
FT VARIANT 285
FT /note="L -> M (in dbSNP:rs11203497)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_063135"
FT CONFLICT 158
FT /note="A -> T (in Ref. 2; BAB71692)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 319 AA; 36790 MW; 982FBEF36007A38A CRC64;
MAICPELAQT DKSALANLSD ETETLKNSTD EVQTSSSFSS SGGRQSSPLT SGSKLEREKQ
TPSLEQGDTQ SELLDYKNYE KKLSKKWINY LKLKDSNFER HQPDTKLPTE ITRVSDEELN
ALQSYCTMKI NLIHRRGDSK KKTSSRHKKL HLGLDVEASE RDAFSCTVPD ELLNRIYFKN
MRTTPKQEAA AKQHISYQCP YCNRKRAELA LSAFLKQKKT LLESFLLQER IDEHLHTKDF
LTRIGEAHQD FPRLSDDPRI IWKRLTEKSH IRYSGFERSE TEQKLQRDGN SACHLPFSLP
FLKRLTLIKP ELVIVNDNV
