CNFN_HUMAN
ID CNFN_HUMAN Reviewed; 112 AA.
AC Q9BYD5; B2R569;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Cornifelin;
GN Name=CNFN;
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], TISSUE SPECIFICITY, FUNCTION, AND INTERACTION
RP WITH LORICIN AND INVOLUCRIN.
RC TISSUE=Psoriatic skin;
RX PubMed=15147942; DOI=10.1016/j.bbrc.2004.04.109;
RA Michibata H., Chiba H., Wakimoto K., Seishima M., Kawasaki S., Okubo K.,
RA Mitsui H., Torii H., Imai Y.;
RT "Identification and characterization of a novel component of the cornified
RT envelope, cornifelin.";
RL Biochem. Biophys. Res. Commun. 318:803-813(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 PROTEIN SEQUENCE OF 105-112.
RC TISSUE=Keratinocyte;
RX PubMed=9115270; DOI=10.1074/jbc.272.18.12035;
RA Robinson N.A., Lapic S., Welter J.F., Eckert R.L.;
RT "S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich
RT proteins, plasminogen activator inhibitor-2, and involucrin are components
RT of the cornified envelope of cultured human epidermal keratinocytes.";
RL J. Biol. Chem. 272:12035-12046(1997).
CC -!- FUNCTION: Part of the insoluble cornified cell envelope (CE) of
CC stratified squamous epithelia. {ECO:0000269|PubMed:15147942}.
CC -!- SUBUNIT: Directly or indirectly cross-linked to CE proteins loricin and
CC involucrin (IVL).
CC -!- INTERACTION:
CC Q9BYD5; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-12819063, EBI-744556;
CC Q9BYD5; Q02930-3: CREB5; NbExp=3; IntAct=EBI-12819063, EBI-10192698;
CC Q9BYD5; Q03828: EVX2; NbExp=3; IntAct=EBI-12819063, EBI-17280301;
CC Q9BYD5; Q8WU58: FAM222B; NbExp=3; IntAct=EBI-12819063, EBI-2807642;
CC Q9BYD5; P49639: HOXA1; NbExp=3; IntAct=EBI-12819063, EBI-740785;
CC Q9BYD5; P09067: HOXB5; NbExp=3; IntAct=EBI-12819063, EBI-3893317;
CC Q9BYD5; O43593: HR; NbExp=3; IntAct=EBI-12819063, EBI-2880706;
CC Q9BYD5; Q5T749: KPRP; NbExp=3; IntAct=EBI-12819063, EBI-10981970;
CC Q9BYD5; Q9UP95: SLC12A4; NbExp=3; IntAct=EBI-12819063, EBI-7244836;
CC Q9BYD5; Q9NQB0-10: TCF7L2; NbExp=3; IntAct=EBI-12819063, EBI-11746252;
CC Q9BYD5; Q7Z6R9: TFAP2D; NbExp=3; IntAct=EBI-12819063, EBI-11952651;
CC Q9BYD5; Q08117-2: TLE5; NbExp=3; IntAct=EBI-12819063, EBI-11741437;
CC Q9BYD5; A8MV65-2: VGLL3; NbExp=3; IntAct=EBI-12819063, EBI-11957216;
CC Q9BYD5; Q64LD2-2: WDR25; NbExp=3; IntAct=EBI-12819063, EBI-12032042;
CC Q9BYD5; Q96IQ9: ZNF414; NbExp=3; IntAct=EBI-12819063, EBI-744257;
CC Q9BYD5; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-12819063, EBI-745520;
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Note=Constituent of the scaffolding of
CC the cornified envelope. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Abundant in the cervix. Moderately abundant in the
CC uterus and fetal skin. Expression is markedly increased in psoriatic
CC skin (18.5 fold increase in comparison with normal skin) and its
CC overexpression alters the protein composition of cornified cell
CC envelope (CE), but does not affect keratinocyte differentiation.
CC Expressed in the granular cell layer of epidermis in uninvolved
CC psoriatic skin and in the psoriatic lesions it is found in the upper-
CC spinous layer. Increased expression also seen in atopic dermatitis
CC (14.3 fold increase in comparison with normal skin) and mycosis
CC fungoides (4.6 fold increase in comparison with normal skin) and in
CC both conditions expressed in the granular cell layer of epidermis.
CC {ECO:0000269|PubMed:15147942}.
CC -!- SIMILARITY: Belongs to the cornifelin family. {ECO:0000305}.
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DR EMBL; AB049591; BAB40656.2; -; mRNA.
DR EMBL; AK312080; BAG35016.1; -; mRNA.
DR EMBL; BC101197; AAI01198.1; -; mRNA.
DR EMBL; BC101198; AAI01199.1; -; mRNA.
DR CCDS; CCDS12606.1; -.
DR RefSeq; NP_115877.2; NM_032488.3.
DR AlphaFoldDB; Q9BYD5; -.
DR BioGRID; 124112; 17.
DR IntAct; Q9BYD5; 16.
DR STRING; 9606.ENSP00000222032; -.
DR BioMuta; CNFN; -.
DR DMDM; 74717688; -.
DR MassIVE; Q9BYD5; -.
DR PaxDb; Q9BYD5; -.
DR PeptideAtlas; Q9BYD5; -.
DR PRIDE; Q9BYD5; -.
DR ProteomicsDB; 79620; -.
DR Antibodypedia; 62296; 21 antibodies from 8 providers.
DR DNASU; 84518; -.
DR Ensembl; ENST00000222032.10; ENSP00000222032.4; ENSG00000105427.10.
DR Ensembl; ENST00000597255.1; ENSP00000469590.1; ENSG00000105427.10.
DR GeneID; 84518; -.
DR KEGG; hsa:84518; -.
DR MANE-Select; ENST00000222032.10; ENSP00000222032.4; NM_032488.4; NP_115877.2.
DR UCSC; uc002otp.5; human.
DR CTD; 84518; -.
DR DisGeNET; 84518; -.
DR GeneCards; CNFN; -.
DR HGNC; HGNC:30183; CNFN.
DR HPA; ENSG00000105427; Tissue enhanced (esophagus, vagina).
DR MIM; 611764; gene.
DR neXtProt; NX_Q9BYD5; -.
DR OpenTargets; ENSG00000105427; -.
DR PharmGKB; PA134938429; -.
DR VEuPathDB; HostDB:ENSG00000105427; -.
DR eggNOG; ENOG502S8N3; Eukaryota.
DR GeneTree; ENSGT00940000161202; -.
DR HOGENOM; CLU_083147_5_2_1; -.
DR InParanoid; Q9BYD5; -.
DR OMA; CASTCYQ; -.
DR OrthoDB; 1354725at2759; -.
DR PhylomeDB; Q9BYD5; -.
DR TreeFam; TF330308; -.
DR PathwayCommons; Q9BYD5; -.
DR SignaLink; Q9BYD5; -.
DR BioGRID-ORCS; 84518; 15 hits in 1060 CRISPR screens.
DR ChiTaRS; CNFN; human.
DR GenomeRNAi; 84518; -.
DR Pharos; Q9BYD5; Tdark.
DR PRO; PR:Q9BYD5; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BYD5; protein.
DR Bgee; ENSG00000105427; Expressed in lower esophagus mucosa and 115 other tissues.
DR Genevisible; Q9BYD5; HS.
DR GO; GO:0001533; C:cornified envelope; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0031424; P:keratinization; IEA:UniProtKB-KW.
DR InterPro; IPR006461; PLAC_motif_containing.
DR PANTHER; PTHR15907; PTHR15907; 1.
DR Pfam; PF04749; PLAC8; 1.
DR TIGRFAMs; TIGR01571; A_thal_Cys_rich; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Direct protein sequencing; Keratinization; Reference proteome.
FT CHAIN 1..112
FT /note="Cornifelin"
FT /id="PRO_0000261195"
SQ SEQUENCE 112 AA; 12376 MW; FEE3BBA649043F72 CRC64;
MSYPVTSQPQ CATTSCYQTQ LSDWHTGLTD CCNDMPVCLC GTFAPLCLAC RISDDFGECC
CAPYLPGGLH SIRTGMRERY HIQGSVGHDW AALTFCLPCA LCQMARELKI RE
