KRT74 (keratin 74)

Gene

• Entrez ID: 121391
• Gene name: Keratin 74
• Gene symbol: KRT74
• Synonyms (NCBI Gene): ADWH, ECTD7, HTSS2, HYPT3, K6IRS4, KRT5C, KRT6IRS4
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inn

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147962513	A>G	Benign, pathogenic	Missense variant, coding sequence variant
rs267607205	G>A,C,T	Pathogenic, not-provided	Missense variant, synonymous variant, coding sequence variant
rs267607477	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607478	C>T	Pathogenic, not-provided	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT642686	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT642685	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT642684	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT642683	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT642682	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT642681	hsa-miR-4470	HITS-CLIP	23824327
MIRT642680	hsa-miR-4651	HITS-CLIP	23824327
MIRT642679	hsa-miR-608	HITS-CLIP	23824327
MIRT642678	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT642677	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT642686	hsa-miR-224-5p	HITS-CLIP	23824327
MIRT642685	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT642684	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT642683	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT642682	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT642681	hsa-miR-4470	HITS-CLIP	23824327
MIRT642680	hsa-miR-4651	HITS-CLIP	23824327
MIRT642679	hsa-miR-608	HITS-CLIP	23824327
MIRT642678	hsa-miR-3688-5p	HITS-CLIP	23824327
MIRT642677	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT1101465	hsa-miR-1262	CLIP-seq
MIRT1101466	hsa-miR-1293	CLIP-seq
MIRT1101467	hsa-miR-3121-3p	CLIP-seq
MIRT1101468	hsa-miR-3166	CLIP-seq
MIRT1101469	hsa-miR-3173-3p	CLIP-seq
MIRT1101470	hsa-miR-3190	CLIP-seq
MIRT1101471	hsa-miR-3689d	CLIP-seq
MIRT1101472	hsa-miR-4318	CLIP-seq
MIRT1101473	hsa-miR-4438	CLIP-seq
MIRT1101474	hsa-miR-4455	CLIP-seq
MIRT1101475	hsa-miR-4483	CLIP-seq
MIRT1101476	hsa-miR-4701-3p	CLIP-seq
MIRT1101477	hsa-miR-4769-3p	CLIP-seq
MIRT1101478	hsa-miR-609	CLIP-seq
MIRT1101479	hsa-miR-642b	CLIP-seq
MIRT1101480	hsa-miR-644	CLIP-seq
MIRT1101481	hsa-miR-7	CLIP-seq
MIRT2258944	hsa-miR-1273e	CLIP-seq
MIRT2258945	hsa-miR-636	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	20346438
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
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:0045104	Process	Intermediate filament cytoskeleton organization	IDA	20346438
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1990254	Function	Keratin filament binding	IPI	20346438

Other IDs

• MIM: 608248
• HGNC: 28929
• e!Ensembl: ENSG00000170484

Protein

• UniProt ID: Q7RTS7
• Protein name: Keratin, type II cytoskeletal 74 (Cytokeratin-74) (CK-74) (Keratin-5c) (K5C) (Keratin-74) (K74) (Type II inner root sheath-specific keratin-K6irs4) (Type-II keratin Kb37)
• Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	2 → 136	Keratin type II head	Family
  PF00038	Filament	139 → 452	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley la
• Sequence:

  MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRIS
  FNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKS
  LLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDL
  NNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTA
  ENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMD
  NNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVE
  LNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELAR
  MLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAG
  VDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR

• Sequence length: 529

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal dominant wooly hair	Pathogenic	rs267607205, rs267607478	RCV000002564 RCV000023696
Hypotrichosis 3	Pathogenic	rs267607477	RCV000023697

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ectodermal dysplasia 4, hair/nail type	Conflicting classifications of pathogenicity	rs147962513	RCV000128478
Ectodermal dysplasia 7, hair/nail type	Conflicting classifications of pathogenicity; Uncertain significance	rs147962513, rs148260181	RCV000128640 RCV005399114
KRT74-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs147962513, rs143856828, rs114682029, rs571223121, rs201094419, rs560061785, rs868619275, rs139723680, rs142401177, rs114132371, rs148173615, rs144445159, rs149972815	RCV003925086 RCV003916564 RCV003943556 RCV003929604 RCV003934525 RCV003981793 RCV003964737 RCV003978208 RCV003918475 RCV003910435 RCV003932875 RCV003932876 RCV003950841
Malignant tumor of esophagus	Benign	rs3858633	RCV005915573

Associations from Text Mining
Disease Name	Relationship Type	References
Hair Diseases	Associate	22592156, 32927888
Woolly hair congenital	Associate	22592156