ID KDF1_HUMAN Reviewed; 398 AA. AC Q8NAX2; Q5QP32; Q8N0S7; DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot. DT 29-MAY-2007, sequence version 2. DT 27-MAR-2024, entry version 139. DE RecName: Full=Keratinocyte differentiation factor 1; GN Name=KDF1; Synonyms=C1orf172; 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=Kidney; 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]. RX PubMed=16710414; DOI=10.1038/nature04727; RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K., RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 27-398. RC TISSUE=Placenta; 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 POSSIBLE INVOLVEMENT IN ECTD12, AND VARIANT ECTD12 LEU-251. RX PubMed=27838789; DOI=10.1007/s00439-016-1741-z; RA Shamseldin H.E., Khalifa O., Binamer Y.M., Almutawa A., Arold S.T., RA Zaidan H., Alkuraya F.S.; RT "KDF1, encoding keratinocyte differentiation factor 1, is mutated in a RT multigenerational family with ectodermal dysplasia."; RL Hum. Genet. 136:99-105(2017). RN [5] RP VARIANT [LARGE SCALE ANALYSIS] HIS-312. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). 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 (By similarity). {ECO:0000250|UniProtKB:A2A9F4}. CC -!- INTERACTION: CC Q8NAX2; Q03989: ARID5A; NbExp=3; IntAct=EBI-11997992, EBI-948603; CC Q8NAX2; Q8TD10: MIPOL1; NbExp=3; IntAct=EBI-11997992, EBI-2548751; CC Q8NAX2; P78424: POU6F2; NbExp=3; IntAct=EBI-11997992, EBI-12029004; CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2A9F4}. Cell CC junction {ECO:0000250|UniProtKB:A2A9F4}. 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 (By similarity). {ECO:0000250|UniProtKB:A2A9F4}. CC -!- DISEASE: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type CC (ECTD12) [MIM:617337]: A form of ectodermal dysplasia, a disorder due CC to abnormal development of two or more ectodermal structures. ECTD12 is CC an autosomal dominant, hypohidrotic form characterized by sparse hair CC (atrichosis or hypotrichosis), abnormal or missing teeth, and the CC inability to sweat due to defective development of sweat glands. CC {ECO:0000269|PubMed:27838789}. Note=The disease may be caused by CC variants affecting the gene represented in this entry. CC -!- SEQUENCE CAUTION: CC Sequence=AAH33143.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK091952; BAC03775.1; -; mRNA. DR EMBL; AL356390; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC033143; AAH33143.1; ALT_INIT; mRNA. DR CCDS; CCDS293.1; -. DR RefSeq; NP_689578.2; NM_152365.2. DR RefSeq; XP_005245792.1; XM_005245735.2. DR RefSeq; XP_011538924.1; XM_011540622.1. DR AlphaFoldDB; Q8NAX2; -. DR BioGRID; 126010; 200. DR IntAct; Q8NAX2; 4. DR MINT; Q8NAX2; -. DR STRING; 9606.ENSP00000319179; -. DR iPTMnet; Q8NAX2; -. DR PhosphoSitePlus; Q8NAX2; -. DR SwissPalm; Q8NAX2; -. DR BioMuta; KDF1; -. DR DMDM; 152125836; -. DR EPD; Q8NAX2; -. DR jPOST; Q8NAX2; -. DR MassIVE; Q8NAX2; -. DR MaxQB; Q8NAX2; -. DR PaxDb; 9606-ENSP00000319179; -. DR PeptideAtlas; Q8NAX2; -. DR ProteomicsDB; 72710; -. DR Antibodypedia; 30716; 109 antibodies from 13 providers. DR DNASU; 126695; -. DR Ensembl; ENST00000320567.6; ENSP00000319179.5; ENSG00000175707.10. DR GeneID; 126695; -. DR KEGG; hsa:126695; -. DR MANE-Select; ENST00000320567.6; ENSP00000319179.5; NM_152365.3; NP_689578.2. DR UCSC; uc001bni.3; human. DR AGR; HGNC:26624; -. DR CTD; 126695; -. DR DisGeNET; 126695; -. DR GeneCards; KDF1; -. DR HGNC; HGNC:26624; KDF1. DR HPA; ENSG00000175707; Low tissue specificity. DR MalaCards; KDF1; -. DR MIM; 616758; gene. DR MIM; 617337; phenotype. DR neXtProt; NX_Q8NAX2; -. DR OpenTargets; ENSG00000175707; -. DR Orphanet; 1810; Autosomal dominant hypohidrotic ectodermal dysplasia. DR PharmGKB; PA142672421; -. DR VEuPathDB; HostDB:ENSG00000175707; -. DR eggNOG; ENOG502QQ0M; Eukaryota. DR GeneTree; ENSGT00390000016565; -. DR HOGENOM; CLU_058054_2_0_1; -. DR InParanoid; Q8NAX2; -. DR OMA; ALCFRRC; -. DR OrthoDB; 4185440at2759; -. DR PhylomeDB; Q8NAX2; -. DR TreeFam; TF336538; -. DR PathwayCommons; Q8NAX2; -. DR SignaLink; Q8NAX2; -. DR BioGRID-ORCS; 126695; 24 hits in 1145 CRISPR screens. DR GenomeRNAi; 126695; -. DR Pharos; Q8NAX2; Tbio. DR PRO; PR:Q8NAX2; -. DR Proteomes; UP000005640; Chromosome 1. DR RNAct; Q8NAX2; Protein. DR Bgee; ENSG00000175707; Expressed in mucosa of transverse colon and 129 other cell types or tissues. DR ExpressionAtlas; Q8NAX2; baseline and differential. DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-SubCell. DR GO; GO:0005938; C:cell cortex; IEA:Ensembl. DR GO; GO:0030054; C:cell junction; ISS:UniProtKB. DR GO; GO:0031252; C:cell leading edge; IEA:Ensembl. DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB. DR GO; GO:0048589; P:developmental growth; ISS:UniProtKB. DR GO; GO:0061436; P:establishment of skin barrier; ISS:UniProtKB. DR GO; GO:0003334; P:keratinocyte development; IEA:Ensembl. DR GO; GO:0043616; P:keratinocyte proliferation; IEA:Ensembl. DR GO; GO:0060887; P:limb epidermis development; ISS:UniProtKB. DR GO; GO:0016331; P:morphogenesis of embryonic epithelium; ISS:UniProtKB. DR GO; GO:0010839; P:negative regulation of keratinocyte proliferation; IEA:Ensembl. DR GO; GO:2000647; P:negative regulation of stem cell proliferation; ISS:UniProtKB. DR GO; GO:0045606; P:positive regulation of epidermal cell differentiation; ISS:UniProtKB. DR GO; GO:0010482; P:regulation of epidermal cell division; ISS:UniProtKB. DR GO; GO:0072089; P:stem cell proliferation; IEA:Ensembl. DR InterPro; IPR028003; KDF1. DR PANTHER; PTHR35085; KERATINOCYTE DIFFERENTIATION FACTOR 1; 1. DR PANTHER; PTHR35085:SF1; KERATINOCYTE DIFFERENTIATION FACTOR 1; 1. DR Pfam; PF15551; DUF4656; 1. DR Genevisible; Q8NAX2; HS. PE 1: Evidence at protein level; KW Cell junction; Cytoplasm; Developmental protein; Differentiation; KW Disease variant; Ectodermal dysplasia; Phosphoprotein; Reference proteome. FT CHAIN 1..398 FT /note="Keratinocyte differentiation factor 1" FT /id="PRO_0000289048" FT REGION 1..60 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 123..156 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 307..340 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 369..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 37..53 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 377..391 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 218 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:A2A9F4" FT VARIANT 100 FT /note="Q -> R (in dbSNP:rs17360994)" FT /id="VAR_032561" FT VARIANT 107 FT /note="R -> W (in dbSNP:rs3010109)" FT /id="VAR_032562" FT VARIANT 189 FT /note="K -> R (in dbSNP:rs34291506)" FT /id="VAR_032563" FT VARIANT 251 FT /note="F -> L (in ECTD12; uncertain significance; FT dbSNP:rs1057519508)" FT /evidence="ECO:0000269|PubMed:27838789" FT /id="VAR_078070" FT VARIANT 312 FT /note="R -> H (in a colorectal cancer sample; somatic FT mutation; dbSNP:rs755094201)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_035616" FT CONFLICT 150 FT /note="R -> Q (in Ref. 1; BAC03775)" FT /evidence="ECO:0000305" SQ SEQUENCE 398 AA; 43642 MW; BFD4D537D2F2A8D2 CRC64; MPRPGHPRPA SGPPRLGPWE RPTELCLETY DKPPQPPPSR RTRRPDPKDP GHHGPESITF ISGSAEPALE SPTCCLLWRP WVWEWCRAAF CFRRCRDCLQ RCGACVRGCS PCLSTEDSTE GTAEANWAKE HNGVPPSPDR APPSRRDGQR LKSTMGSSFS YPDVKLKGIP VYPYPRATSP APDADSCCKE PLADPPPMRH SLPSTFASSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID VLIFKKLTEL FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG IIRISTRKSR ARPQTSEGRS TRAAAPTAAA PDSGHETMVG SGLSQDELTV QISQETTADA IARKLRPYGA PGYPASHDSS FQGTDTDSSG APLLQVYC //