KRT85 (keratin 85)

Gene

• Entrez ID: 3891
• Gene name: Keratin 85
• Gene symbol: KRT85
• Synonyms (NCBI Gene): ECTD4, HB5, Hb-5, K85, KRTHB5, hHb5
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565766888	AG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005174	hsa-miR-30a-5p	pSILAC	18668040
MIRT1101878	hsa-miR-1182	CLIP-seq
MIRT1101879	hsa-miR-1909	CLIP-seq
MIRT1101880	hsa-miR-193a-5p	CLIP-seq
MIRT1101881	hsa-miR-3124-3p	CLIP-seq
MIRT1101882	hsa-miR-3137	CLIP-seq
MIRT1101883	hsa-miR-3914	CLIP-seq
MIRT1101884	hsa-miR-4446-5p	CLIP-seq
MIRT1101885	hsa-miR-4755-5p	CLIP-seq
MIRT1101886	hsa-miR-4764-3p	CLIP-seq
MIRT1101887	hsa-miR-4795-5p	CLIP-seq
MIRT1101888	hsa-miR-4804-3p	CLIP-seq
MIRT1101889	hsa-miR-618	CLIP-seq
MIRT1101890	hsa-miR-642a	CLIP-seq
MIRT1101891	hsa-miR-939	CLIP-seq
MIRT2027687	hsa-miR-125a-5p	CLIP-seq
MIRT2027688	hsa-miR-125b	CLIP-seq
MIRT2027689	hsa-miR-4319	CLIP-seq
MIRT2027690	hsa-miR-4324	CLIP-seq
MIRT2027691	hsa-miR-4487	CLIP-seq
MIRT2027692	hsa-miR-4731-5p	CLIP-seq
MIRT2027693	hsa-miR-4732-3p	CLIP-seq
MIRT2027694	hsa-miR-670	CLIP-seq
MIRT1101891	hsa-miR-939	CLIP-seq
MIRT2259016	hsa-miR-1207-5p	CLIP-seq
MIRT2259017	hsa-miR-3665	CLIP-seq
MIRT2259018	hsa-miR-4505	CLIP-seq
MIRT2259019	hsa-miR-4514	CLIP-seq
MIRT2259020	hsa-miR-4692	CLIP-seq
MIRT2259021	hsa-miR-4736	CLIP-seq
MIRT2259022	hsa-miR-4763-3p	CLIP-seq
MIRT2259023	hsa-miR-636	CLIP-seq
MIRT2259024	hsa-miR-671-5p	CLIP-seq
MIRT2259025	hsa-miR-764	CLIP-seq
MIRT2259026	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	TAS	9084137
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0008544	Process	Epidermis development	TAS	9084137
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA

Other IDs

• MIM: 602767
• HGNC: 6462
• e!Ensembl: ENSG00000135443

Protein

• UniProt ID: P78386
• Protein name: Keratin, type II cuticular Hb5 (Hair keratin K2.12) (Keratin-85) (K85) (Type II hair keratin Hb5) (Type-II keratin Kb25)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	61 → 119	Keratin type II head	Family
  PF00038	Filament	122 → 433	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair
• Sequence:

  MSCRSYRISSGCGVTRNFSSCSAVAPKTGNRCCISAAPYRGVSCYRGLTGFGSRSLCNLG
  SCGPRIAVGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVK
  QEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKWQFYQNQRCCESNLEPLFSGYIETLR
  REAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAENEFVVLKKDVDCAYLRKS
  DLEANVEALVEESSFLRRLYEEEIRVLQAHISDTSVIVKMDNSRDLNMDCIIAEIKAQYD
  DVASRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEIENAKCQR
  AKLEAAVAEAEQQGEAALSDARCKLAELEGALQKAKQDMACLLKEYQEVMNSKLGLDIEI
  ATYRRLLEGEEHRLCEGVGSVNVCVSSSRGGVSCGGLSYSTTPGRQITSGPSAIGGSITV
  VAPDSCAPCQPRSSSFSCGSSRSVRFA

• Sequence length: 507

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ectodermal dysplasia 4, hair/nail type	Pathogenic	rs1565766888	RCV000088680

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
KRT85-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs143063799, rs138197383, rs139493548, rs61731778, rs149560920, rs200758226, rs61731784, rs373479477, rs2540579644, rs376347432, rs377299892, rs77184300, rs2540572834	RCV004757549 RCV003906280 RCV003916594 RCV003936386 RCV003906342 RCV003963747 RCV003929244 RCV003974235 RCV003977222 RCV003899370 RCV003899462 RCV003932176 RCV003976826

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Associate	34911835
Ectodermal Dysplasia	Associate	16525032
Ectodermal Dysplasia Pure Hair Nail Type	Associate	16525032, 33605551
Neoplasms	Associate	19893615
Scleritis	Associate	36930145