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Q8NAX2

- KDF1_HUMAN

UniProt

Q8NAX2 - KDF1_HUMAN

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Protein

Keratinocyte differentiation factor 1

Gene

KDF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

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. developmental growth Source: UniProtKB
  2. establishment of skin barrier Source: UniProtKB
  3. keratinocyte development Source: Ensembl
  4. limb epidermis development Source: UniProtKB
  5. morphogenesis of embryonic epithelium Source: UniProtKB
  6. negative regulation of keratinocyte proliferation Source: Ensembl
  7. negative regulation of stem cell proliferation Source: UniProtKB
  8. positive regulation of epidermal cell differentiation Source: UniProtKB
  9. regulation of epidermal cell division Source: UniProtKB
Complete GO annotation...

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 cortex Source: Ensembl
  2. cell junction Source: UniProtKB
  3. cell leading edge Source: Ensembl
  4. cytoplasm Source: UniProtKB
Complete GO annotation...

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.
ExpressionAtlasiQ8NAX2. baseline and differential.
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.
GeneTreeiENSGT00390000016565.
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

        10         20         30         40         50
MPRPGHPRPA SGPPRLGPWE RPTELCLETY DKPPQPPPSR RTRRPDPKDP
60 70 80 90 100
GHHGPESITF ISGSAEPALE SPTCCLLWRP WVWEWCRAAF CFRRCRDCLQ
110 120 130 140 150
RCGACVRGCS PCLSTEDSTE GTAEANWAKE HNGVPPSPDR APPSRRDGQR
160 170 180 190 200
LKSTMGSSFS YPDVKLKGIP VYPYPRATSP APDADSCCKE PLADPPPMRH
210 220 230 240 250
SLPSTFASSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID VLIFKKLTEL
260 270 280 290 300
FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG
310 320 330 340 350
IIRISTRKSR ARPQTSEGRS TRAAAPTAAA PDSGHETMVG SGLSQDELTV
360 370 380 390
QISQETTADA IARKLRPYGA PGYPASHDSS FQGTDTDSSG APLLQVYC
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000016565.
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.
ExpressionAtlasi Q8NAX2. baseline and differential.
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 29, 2014
This is version 80 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