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Q8NAX2

- KDF1_HUMAN

UniProt

Q8NAX2 - KDF1_HUMAN

Protein

Keratinocyte differentiation factor 1

Gene

KDF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (29 May 2007)
      Previous versions | rss
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    Functioni

    Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny By similarity.By similarity

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. developmental growth Source: UniProtKB
    3. establishment of skin barrier Source: UniProtKB
    4. limb epidermis development Source: UniProtKB
    5. morphogenesis of embryonic epithelium Source: UniProtKB
    6. negative regulation of stem cell proliferation Source: UniProtKB
    7. positive regulation of epidermal cell differentiation Source: UniProtKB
    8. regulation of epidermal cell division Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratinocyte differentiation factor 1
    Gene namesi
    Name:KDF1
    Synonyms:C1orf172
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26624. KDF1.

    Subcellular locationi

    Cytoplasm By similarity. Cell junction By similarity
    Note: Localized at cell borders in single layered keratinocytes. Localized at cell borders in the basal and spinous layers but is more diffusely localized in the granular layer. Colocalized with actin near the cell membrane, especially in cellular protrusions By similarity.By similarity

    GO - Cellular componenti

    1. cell junction Source: UniProtKB
    2. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672421.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 398398Keratinocyte differentiation factor 1PRO_0000289048Add
    BLAST

    Proteomic databases

    MaxQBiQ8NAX2.
    PaxDbiQ8NAX2.
    PRIDEiQ8NAX2.

    PTM databases

    PhosphoSiteiQ8NAX2.

    Expressioni

    Gene expression databases

    BgeeiQ8NAX2.
    CleanExiHS_C1orf172.
    GenevestigatoriQ8NAX2.

    Organism-specific databases

    HPAiHPA028639.
    HPA028662.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000319179.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NAX2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 5554Pro-richAdd
    BLAST
    Compositional biasi74 – 11239Cys-richAdd
    BLAST

    Phylogenomic databases

    eggNOGiNOG45474.
    HOGENOMiHOG000285955.
    HOVERGENiHBG056885.
    InParanoidiQ8NAX2.
    OMAiTELCLET.
    OrthoDBiEOG7TMZRV.
    PhylomeDBiQ8NAX2.
    TreeFamiTF336538.

    Family and domain databases

    InterProiIPR028003. DUF4656.
    [Graphical view]
    PfamiPF15551. DUF4656. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8NAX2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPRPGHPRPA SGPPRLGPWE RPTELCLETY DKPPQPPPSR RTRRPDPKDP    50
    GHHGPESITF ISGSAEPALE SPTCCLLWRP WVWEWCRAAF CFRRCRDCLQ 100
    RCGACVRGCS PCLSTEDSTE GTAEANWAKE HNGVPPSPDR APPSRRDGQR 150
    LKSTMGSSFS YPDVKLKGIP VYPYPRATSP APDADSCCKE PLADPPPMRH 200
    SLPSTFASSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID VLIFKKLTEL 250
    FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG 300
    IIRISTRKSR ARPQTSEGRS TRAAAPTAAA PDSGHETMVG SGLSQDELTV 350
    QISQETTADA IARKLRPYGA PGYPASHDSS FQGTDTDSSG APLLQVYC 398
    Length:398
    Mass (Da):43,642
    Last modified:May 29, 2007 - v2
    Checksum:iBFD4D537D2F2A8D2
    GO

    Sequence cautioni

    The sequence AAH33143.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti150 – 1501R → Q in BAC03775. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti100 – 1001Q → R.
    Corresponds to variant rs17360994 [ dbSNP | Ensembl ].
    VAR_032561
    Natural varianti107 – 1071R → W.
    Corresponds to variant rs3010109 [ dbSNP | Ensembl ].
    VAR_032562
    Natural varianti189 – 1891K → R.
    Corresponds to variant rs34291506 [ dbSNP | Ensembl ].
    VAR_032563
    Natural varianti312 – 3121R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035616

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091952 mRNA. Translation: BAC03775.1.
    AL356390 Genomic DNA. Translation: CAI13559.1.
    BC033143 mRNA. Translation: AAH33143.1. Different initiation.
    CCDSiCCDS293.1.
    RefSeqiNP_689578.2. NM_152365.2.
    XP_005245792.1. XM_005245735.1.
    UniGeneiHs.188881.

    Genome annotation databases

    EnsembliENST00000320567; ENSP00000319179; ENSG00000175707.
    GeneIDi126695.
    KEGGihsa:126695.
    UCSCiuc001bni.2. human.

    Polymorphism databases

    DMDMi152125836.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091952 mRNA. Translation: BAC03775.1 .
    AL356390 Genomic DNA. Translation: CAI13559.1 .
    BC033143 mRNA. Translation: AAH33143.1 . Different initiation.
    CCDSi CCDS293.1.
    RefSeqi NP_689578.2. NM_152365.2.
    XP_005245792.1. XM_005245735.1.
    UniGenei Hs.188881.

    3D structure databases

    ProteinModelPortali Q8NAX2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000319179.

    PTM databases

    PhosphoSitei Q8NAX2.

    Polymorphism databases

    DMDMi 152125836.

    Proteomic databases

    MaxQBi Q8NAX2.
    PaxDbi Q8NAX2.
    PRIDEi Q8NAX2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320567 ; ENSP00000319179 ; ENSG00000175707 .
    GeneIDi 126695.
    KEGGi hsa:126695.
    UCSCi uc001bni.2. human.

    Organism-specific databases

    CTDi 126695.
    GeneCardsi GC01M027276.
    H-InvDB HIX0000322.
    HGNCi HGNC:26624. KDF1.
    HPAi HPA028639.
    HPA028662.
    neXtProti NX_Q8NAX2.
    PharmGKBi PA142672421.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45474.
    HOGENOMi HOG000285955.
    HOVERGENi HBG056885.
    InParanoidi Q8NAX2.
    OMAi TELCLET.
    OrthoDBi EOG7TMZRV.
    PhylomeDBi Q8NAX2.
    TreeFami TF336538.

    Miscellaneous databases

    GenomeRNAii 126695.
    NextBioi 81892.

    Gene expression databases

    Bgeei Q8NAX2.
    CleanExi HS_C1orf172.
    Genevestigatori Q8NAX2.

    Family and domain databases

    InterProi IPR028003. DUF4656.
    [Graphical view ]
    Pfami PF15551. DUF4656. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Kidney.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 27-398.
      Tissue: Placenta.
    4. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-312.

    Entry informationi

    Entry nameiKDF1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NAX2
    Secondary accession number(s): Q5QP32, Q8N0S7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: May 29, 2007
    Last modified: October 1, 2014
    This is version 79 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations

    External Data

    Dasty 3