Family Search for PF15551 (DUF4656)

PF15551 hits 2 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

KDF1_MOUSE / A2A9F4 Keratinocyte differentiation factor 1 from Mus musculus (Mouse) (see paper)
XP_006539213 keratinocyte differentiation factor 1 isoform X1 from Mus musculus
Aligns to 34:397 / 397 (91.7%), covers 99.7% of PF15551, 595.2 bits

• 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.
• Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα.
  Li, EMBO reports 2020
  • GeneRIF: Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKalpha.
• Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells.
  Lee, Developmental biology 2013
  • GeneRIF: The Keratinocyte differentiation factor 1 is an essential regulator of the proliferation-differentiation balance in epidermal progenitor cells.

KDF1_HUMAN / Q8NAX2 Keratinocyte differentiation factor 1 from Homo sapiens (Human) (see paper)
XP_011538924 keratinocyte differentiation factor 1 isoform X1 from Homo sapiens
Aligns to 34:398 / 398 (91.7%), covers 99.7% of PF15551, 595.0 bits

• 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).
• KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.
  Yu, International journal of molecular sciences 2022
  • “...protein structure of wild-type KDF1 was predicted using the AlphaFold Protein Structure Database (UniProt Accession: Q8NAX2), and the conformational structural changes caused by the KDF1 R307P variant were analyzed using the PyMOL Molecular Graphics System (DeLano Scientific, San Francisco, CA, USA). 4.4. Intraoral Scanning and Cone-Beam...”
• KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.
  Yu, International journal of molecular sciences 2022
  • GeneRIF: KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.
• KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
  Shamseldin, Human genetics 2017 (PubMed)
  • GeneRIF: We describe a family with a novel, autosomal dominant form of ectodermal dysplasia that we suggest is the mild human equivalent of the shd mutant phenotype in mouse based on the finding of a novel KDF1 variant by positional mapping and exome sequencing.

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