KDF1_HUMAN
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 03-AUG-2022, entry version 132.
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};
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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 BioMuta; KDF1; -.
DR DMDM; 152125836; -.
DR EPD; Q8NAX2; -.
DR jPOST; Q8NAX2; -.
DR MassIVE; Q8NAX2; -.
DR MaxQB; Q8NAX2; -.
DR PaxDb; Q8NAX2; -.
DR PeptideAtlas; Q8NAX2; -.
DR PRIDE; Q8NAX2; -.
DR ProteomicsDB; 72710; -.
DR Antibodypedia; 30716; 101 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 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; 896286at2759; -.
DR PhylomeDB; Q8NAX2; -.
DR TreeFam; TF336538; -.
DR PathwayCommons; Q8NAX2; -.
DR SignaLink; Q8NAX2; -.
DR BioGRID-ORCS; 126695; 20 hits in 1058 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 127 other tissues.
DR ExpressionAtlas; Q8NAX2; baseline and differential.
DR Genevisible; Q8NAX2; HS.
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; PTHR35085; 1.
DR Pfam; PF15551; DUF4656; 1.
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; unknown pathological
FT significance; 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
