KDF1
entrez
126695
canonical
uniprot
Q8NAX2
canonical
ensembl
ENSG00000175707
resolver
ensp
ENSP00000319179
resolver
ensp
ENSP00000536958
resolver
ensp
ENSP00000536959
resolver
ensp
ENSP00000536960
resolver
ensp
ENSP00000536961
resolver
ensp
ENSP00000536962
resolver
ensp
ENSP00000536963
resolver
ensp
ENSP00000582152
resolver
enst
ENST00000320567
resolver
enst
ENST00000866899
resolver
enst
ENST00000866900
resolver
enst
ENST00000866901
resolver
enst
ENST00000866902
resolver
enst
ENST00000866903
resolver
enst
ENST00000866904
resolver
enst
ENST00000912093
resolver
genesymbol
KDF1
resolver
genesymbol_syn
C1orf172
resolver
hgnc
HGNC:26624
resolver
uniprot
Q5QP32
resolver
uniprot
Q8N0S7
resolver
uniprot_entry
KDF1_HUMAN
resolver
uniprot_sec
Q5QP32
resolver
uniprot_sec
Q8N0S7
resolver
amino_acid_sequence
MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITFISGSAEPALESPTCCLLWRPWVWEWCRAAFCFRRCRDCLQRCGACVRGCSPCLSTEDSTEGTAEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMGSSFSYPDVKLKGIPVYPYPRATSPAPDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYSFHESDLDLPEMGSGSMSSREIDVLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKISDLISSITQDYHLDEQDAEGRLVRGIIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVGSGLSQDELTVQISQETTADAIARKLRPYGAPGYPASHDSSFQGTDTDSSGAPLLQVYC
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337]: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. {ECO:0000269|PubMed:27838789}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:A2A9F4}.
uniprot
proteins
mass_dalton
43642
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
27838789
uniprot
proteins
sequence_length
398
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2A9F4}. Cell junction {ECO:0000250|UniProtKB:A2A9F4}. 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). {ECO:0000250|UniProtKB:A2A9F4}.
uniprot
proteins