KDF1_MOUSE
ID KDF1_MOUSE Reviewed; 397 AA.
AC A2A9F4; Q8C1Q5;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 81.
DE RecName: Full=Keratinocyte differentiation factor 1;
GN Name=Kdf1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Pancreas;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Kidney, Pancreas, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP FUNCTION IN EPIDERMAL DEVELOPMENT, SUBCELLULAR LOCATION, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=24075906; DOI=10.1016/j.ydbio.2013.09.022;
RA Lee S., Kong Y., Weatherbee S.D.;
RT "Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator
RT of the proliferation-differentiation decision in epidermal progenitor
RT cells.";
RL Dev. Biol. 383:201-213(2013).
CC -!- FUNCTION: Plays a role in the regulation of the epidermis formation
CC during early development. Required both as an inhibitor of basal cell
CC proliferation and a promoter of differentiation of basal progenitor
CC cell progeny. {ECO:0000269|PubMed:24075906}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24075906}. Cell
CC junction {ECO:0000269|PubMed:24075906}. Note=Localized at cell borders
CC in single layered keratinocytes. Localized at cell borders in the basal
CC and spinous layers but is more diffusely localized in the granular
CC layer. Colocalized with actin near the cell membrane, especially in
CC cellular protrusions.
CC -!- DEVELOPMENTAL STAGE: Expressed in basal and suprabasal layers of the
CC epidermis as well as within the developing hair follicles and the lumen
CC of the esophagus at 18 dpc. {ECO:0000269|PubMed:24075906}.
CC -!- MISCELLANEOUS: Shorthand (Shd), a recessive ethylnitrosurea-induced
CC mutant with a frameshift that results in a longer protein with the C-
CC terminal being out of frame. Shd displays shortened and fused limbs and
CC craniofacial malformations, including shortened snout at 12.5 dpc. The
CC affected mice display a thickened epidermis with increased basal
CC keratinocyte proliferation and poorly-differentiated epidermal cells
CC that fail to form a normal barrier at 18.5 dpc. Shd homozygotes died at
CC birth, likely due to the epidermis covering the mouth and nose
CC openings, preventing respiration (PubMed:24075906).
CC {ECO:0000305|PubMed:24075906}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC25177.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK007551; BAC25177.1; ALT_FRAME; mRNA.
DR EMBL; AL627228; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS38905.1; -.
DR RefSeq; NP_001077385.1; NM_001083916.1.
DR RefSeq; NP_598468.2; NM_133707.2.
DR RefSeq; XP_006539213.1; XM_006539150.3.
DR RefSeq; XP_006539214.1; XM_006539151.3.
DR AlphaFoldDB; A2A9F4; -.
DR STRING; 10090.ENSMUSP00000101521; -.
DR iPTMnet; A2A9F4; -.
DR PhosphoSitePlus; A2A9F4; -.
DR MaxQB; A2A9F4; -.
DR PaxDb; A2A9F4; -.
DR PRIDE; A2A9F4; -.
DR ProteomicsDB; 269212; -.
DR Antibodypedia; 30716; 101 antibodies from 13 providers.
DR Ensembl; ENSMUST00000042919; ENSMUSP00000048768; ENSMUSG00000037600.
DR Ensembl; ENSMUST00000105901; ENSMUSP00000101521; ENSMUSG00000037600.
DR GeneID; 69073; -.
DR KEGG; mmu:69073; -.
DR UCSC; uc008vcw.1; mouse.
DR CTD; 126695; -.
DR MGI; MGI:1916323; Kdf1.
DR VEuPathDB; HostDB:ENSMUSG00000037600; -.
DR eggNOG; ENOG502QQ0M; Eukaryota.
DR GeneTree; ENSGT00390000016565; -.
DR HOGENOM; CLU_058054_2_0_1; -.
DR InParanoid; A2A9F4; -.
DR OMA; YPYRNTT; -.
DR OrthoDB; 896286at2759; -.
DR PhylomeDB; A2A9F4; -.
DR TreeFam; TF336538; -.
DR BioGRID-ORCS; 69073; 0 hits in 72 CRISPR screens.
DR PRO; PR:A2A9F4; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; A2A9F4; protein.
DR Bgee; ENSMUSG00000037600; Expressed in seminal vesicle and 151 other tissues.
DR ExpressionAtlas; A2A9F4; baseline and differential.
DR Genevisible; A2A9F4; MM.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-SubCell.
DR GO; GO:0005938; C:cell cortex; IDA:MGI.
DR GO; GO:0030054; C:cell junction; IDA:UniProtKB.
DR GO; GO:0031252; C:cell leading edge; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0048589; P:developmental growth; IMP:UniProtKB.
DR GO; GO:0061436; P:establishment of skin barrier; IMP:UniProtKB.
DR GO; GO:0003334; P:keratinocyte development; IMP:MGI.
DR GO; GO:0043616; P:keratinocyte proliferation; IMP:MGI.
DR GO; GO:0060887; P:limb epidermis development; IMP:UniProtKB.
DR GO; GO:0016331; P:morphogenesis of embryonic epithelium; IMP:UniProtKB.
DR GO; GO:0010839; P:negative regulation of keratinocyte proliferation; IMP:MGI.
DR GO; GO:2000647; P:negative regulation of stem cell proliferation; IMP:UniProtKB.
DR GO; GO:0045606; P:positive regulation of epidermal cell differentiation; IMP:UniProtKB.
DR GO; GO:0010482; P:regulation of epidermal cell division; IMP:UniProtKB.
DR GO; GO:0072089; P:stem cell proliferation; IMP:MGI.
DR InterPro; IPR028003; KDF1.
DR PANTHER; PTHR35085; PTHR35085; 1.
DR Pfam; PF15551; DUF4656; 1.
PE 1: Evidence at protein level;
KW Cell junction; Cytoplasm; Developmental protein; Differentiation;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..397
FT /note="Keratinocyte differentiation factor 1"
FT /id="PRO_0000289049"
FT REGION 1..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 130..158
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 192..214
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 304..339
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 361..392
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..16
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 34..53
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 200..214
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 374..390
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 218
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
SQ SEQUENCE 397 AA; 43496 MW; 4A9F93EFD0E248D9 CRC64;
MPRPGQPRPS SGPPRLGPWE RPSELCLETN DERSQPPPGR RTRRPDPKDP GHHGPESITF
ISGSAEPANE PPTCCLLWRP WGWDWCRAAF CFRRCRDCLQ RCGACVRGCS PCLSAGDPIE
GSAEAAWAKE HNGVPPSPDR APPSRRDGQR LKTSMGSSFS YPDVKLKGIP VYPYRHATSP
VPDVDSCCKE PLAEPPPTRH SLPSTFTNSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID
VLIFKKLTEL FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG
IIRISTRKSR SRPQTSEGRS ARSTAPAAAP DSGHETMLGS GLSQDELTVQ ISQETTADAI
ARKLRPYGAP GYPASQDSSF QGTDTDSSGA PLLQVYC
