OCEL1_HUMAN
ID OCEL1_HUMAN Reviewed; 264 AA.
AC Q9H607;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Occludin/ELL domain-containing protein 1;
GN Name=OCEL1;
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=Small intestine;
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].
RC TISSUE=Bone marrow;
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 -!- SIMILARITY: Belongs to the ELL/occludin family. {ECO:0000305}.
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DR EMBL; AK026362; BAB15460.1; -; mRNA.
DR EMBL; BC029361; AAH29361.1; -; mRNA.
DR CCDS; CCDS12351.1; -.
DR RefSeq; NP_078854.1; NM_024578.2.
DR AlphaFoldDB; Q9H607; -.
DR SMR; Q9H607; -.
DR BioGRID; 122759; 4.
DR IntAct; Q9H607; 2.
DR STRING; 9606.ENSP00000215061; -.
DR iPTMnet; Q9H607; -.
DR PhosphoSitePlus; Q9H607; -.
DR BioMuta; OCEL1; -.
DR DMDM; 74733590; -.
DR jPOST; Q9H607; -.
DR MassIVE; Q9H607; -.
DR PaxDb; Q9H607; -.
DR PeptideAtlas; Q9H607; -.
DR PRIDE; Q9H607; -.
DR ProteomicsDB; 80946; -.
DR Antibodypedia; 27553; 83 antibodies from 14 providers.
DR DNASU; 79629; -.
DR Ensembl; ENST00000215061.9; ENSP00000215061.3; ENSG00000099330.9.
DR GeneID; 79629; -.
DR KEGG; hsa:79629; -.
DR MANE-Select; ENST00000215061.9; ENSP00000215061.3; NM_024578.3; NP_078854.1.
DR UCSC; uc002nfp.4; human.
DR CTD; 79629; -.
DR GeneCards; OCEL1; -.
DR HGNC; HGNC:26221; OCEL1.
DR HPA; ENSG00000099330; Tissue enhanced (liver).
DR neXtProt; NX_Q9H607; -.
DR OpenTargets; ENSG00000099330; -.
DR PharmGKB; PA162398385; -.
DR VEuPathDB; HostDB:ENSG00000099330; -.
DR eggNOG; KOG4796; Eukaryota.
DR GeneTree; ENSGT00940000162475; -.
DR InParanoid; Q9H607; -.
DR OMA; HVTARVW; -.
DR OrthoDB; 1299186at2759; -.
DR PhylomeDB; Q9H607; -.
DR TreeFam; TF337682; -.
DR PathwayCommons; Q9H607; -.
DR SignaLink; Q9H607; -.
DR BioGRID-ORCS; 79629; 9 hits in 1074 CRISPR screens.
DR ChiTaRS; OCEL1; human.
DR GenomeRNAi; 79629; -.
DR Pharos; Q9H607; Tdark.
DR PRO; PR:Q9H607; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9H607; protein.
DR Bgee; ENSG00000099330; Expressed in right uterine tube and 160 other tissues.
DR ExpressionAtlas; Q9H607; baseline and differential.
DR Genevisible; Q9H607; HS.
DR GO; GO:0016324; C:apical plasma membrane; IBA:GO_Central.
DR GO; GO:0005923; C:bicellular tight junction; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; IBA:GO_Central.
DR GO; GO:0070830; P:bicellular tight junction assembly; IBA:GO_Central.
DR InterPro; IPR031176; ELL/occludin.
DR InterPro; IPR010844; Occludin_ELL.
DR InterPro; IPR031182; Ocel1.
DR PANTHER; PTHR23288; PTHR23288; 1.
DR PANTHER; PTHR23288:SF15; PTHR23288:SF15; 1.
DR Pfam; PF07303; Occludin_ELL; 1.
DR PROSITE; PS51980; OCEL; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..264
FT /note="Occludin/ELL domain-containing protein 1"
FT /id="PRO_0000271531"
FT DOMAIN 147..257
FT /note="OCEL"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01324"
FT REGION 1..112
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..18
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 42
FT /note="R -> L (in dbSNP:rs10425488)"
FT /id="VAR_034356"
FT VARIANT 109
FT /note="A -> G (in dbSNP:rs891203)"
FT /id="VAR_034357"
SQ SEQUENCE 264 AA; 29404 MW; 7B25A634A844B1E7 CRC64;
MHNPDGSASP TADPGSELQT LGQAARRPPP PRAGHDAPRR TRPSARKPLS CFSRRPMPTR
EPPKTRGSRG HLHTHPPGPG PPLQGLAPRG LKTSAPRPPC QPQPGPHKAK TKKIVFEDEL
LSQALLGAKK PIGAIPKGHK PRPHPVPDYE LKYPPVSSER ERSRYVAVFQ DQYGEFLELQ
HEVGCAQAKL RQLEALLSSL PPPQSQKEAQ VAARVWREFE MKRMDPGFLD KQARCHYLKG
KLRHLKTQIQ KFDDQGDSEG SVYF
