KRT71 (keratin 71)

Gene

• Entrez ID: 112802
• Gene name: Keratin 71
• Gene symbol: KRT71
• Synonyms (NCBI Gene): HYPT13, K6IRS1, KRT6IRS, KRT6IRS1
• 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 gene encodes a protein that is expressed in the inner root sheath of hair follicle

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777545	A>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017338	hsa-miR-335-5p	Microarray	18185580
MIRT1101418	hsa-miR-1	CLIP-seq
MIRT1101419	hsa-miR-1293	CLIP-seq
MIRT1101420	hsa-miR-206	CLIP-seq
MIRT1101421	hsa-miR-3192	CLIP-seq
MIRT1101422	hsa-miR-3673	CLIP-seq
MIRT1101423	hsa-miR-3922-5p	CLIP-seq
MIRT1101424	hsa-miR-3926	CLIP-seq
MIRT1101425	hsa-miR-4434	CLIP-seq
MIRT1101426	hsa-miR-4438	CLIP-seq
MIRT1101427	hsa-miR-4483	CLIP-seq
MIRT1101428	hsa-miR-4505	CLIP-seq
MIRT1101429	hsa-miR-4516	CLIP-seq
MIRT1101430	hsa-miR-4713-3p	CLIP-seq
MIRT1101431	hsa-miR-4753-5p	CLIP-seq
MIRT1101432	hsa-miR-4795-5p	CLIP-seq
MIRT1101433	hsa-miR-490-5p	CLIP-seq
MIRT1101434	hsa-miR-520a-5p	CLIP-seq
MIRT1101435	hsa-miR-525-5p	CLIP-seq
MIRT1101436	hsa-miR-548s	CLIP-seq
MIRT1101437	hsa-miR-613	CLIP-seq
MIRT1550625	hsa-miR-1321	CLIP-seq
MIRT1550626	hsa-miR-197	CLIP-seq
MIRT1550627	hsa-miR-3177-5p	CLIP-seq
MIRT1550628	hsa-miR-3650	CLIP-seq
MIRT1550629	hsa-miR-4270	CLIP-seq
MIRT1550630	hsa-miR-4441	CLIP-seq
MIRT1550631	hsa-miR-4455	CLIP-seq
MIRT1550632	hsa-miR-4739	CLIP-seq
MIRT1550633	hsa-miR-4756-5p	CLIP-seq
MIRT1550634	hsa-miR-5096	CLIP-seq
MIRT1101421	hsa-miR-3192	CLIP-seq
MIRT1101425	hsa-miR-4434	CLIP-seq
MIRT1101426	hsa-miR-4438	CLIP-seq
MIRT1101428	hsa-miR-4505	CLIP-seq
MIRT1101429	hsa-miR-4516	CLIP-seq
MIRT1101432	hsa-miR-4795-5p	CLIP-seq
MIRT2452765	hsa-miR-4302	CLIP-seq
MIRT2452766	hsa-miR-450b-3p	CLIP-seq
MIRT2452767	hsa-miR-4648	CLIP-seq
MIRT2452768	hsa-miR-4654	CLIP-seq
MIRT1101430	hsa-miR-4713-3p	CLIP-seq
MIRT2452769	hsa-miR-4769-5p	CLIP-seq
MIRT1101434	hsa-miR-520a-5p	CLIP-seq
MIRT1101435	hsa-miR-525-5p	CLIP-seq
MIRT2452770	hsa-miR-638	CLIP-seq
MIRT2452771	hsa-miR-769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	IMP	22592156
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IDA	22592156
GO:0045095	Component	Keratin filament	IEA
GO:0045095	Component	Keratin filament	IPI	32296183
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IMP	22592156
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 608245
• HGNC: 28927
• e!Ensembl: ENSG00000139648

Protein

• UniProt ID: Q3SY84
• Protein name: Keratin, type II cytoskeletal 71 (Cytokeratin-71) (CK-71) (Keratin-71) (K71) (Type II inner root sheath-specific keratin-K6irs1) (Keratin 6 irs) (hK6irs) (hK6irs1) (Type-II keratin Kb34)
• Protein function: Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	55 → 126	Keratin type II head	Family
  PF00038	Filament	129 → 442	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp. Specifically expressed in the inner root sheath (IRS) of the hair follicle. Present in the all 3 IRS layers: the cuticle, the Henle and the Huxley layers. Also detected in the pseudopods o
• Sequence:

  MSRQFTCKSGAAAKGGFSGCSAVLSGGSSSSFRAGSKGLSGGFGSRSLYSLGGVRSLNVA
  SGSGKSGGYGFGRGRASGFAGSMFGSVALGPVCPTVCPPGGIHQVTVNESLLAPLNVELD
  PEIQKVRAQEREQIKALNNKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKNNLEPI
  LEGYISNLRKQLETLSGDRVRLDSELRNVRDVVEDYKKRYEEEINKRTAAENEFVLLKKD
  VDAAYANKVELQAKVESMDQEIKFFRCLFEAEITQIQSHISDMSVILSMDNNRNLDLDSI
  IDEVRTQYEEIALKSKAEAEALYQTKFQELQLAAGRHGDDLKNTKNEISELTRLIQRIRS
  EIENVKKQASNLETAIADAEQRGDNALKDARAKLDELEGALHQAKEELARMLREYQELMS
  LKLALDMEIATYRKLLESEECRMSGEFPSPVSISIISSTSGGSVYGFRPSMVSGGYVANS
  SNCISGVCSVRGGEGRSRGSANDYKDTLGKGSSLSAPSKKTSR

• Sequence length: 523

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hypotrichosis 13	Pathogenic	rs587777545	RCV000128639

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
KRT71-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs603193, rs74095123, rs140706935, rs141534890, rs142303164, rs1939107193, rs140307648, rs144494659, rs144618122, rs35988863, rs34468387, rs150338222	RCV003978730 RCV003970948 RCV003936530 RCV003926502 RCV003906341 RCV003899201 RCV003914046 RCV003935913 RCV003903221 RCV003926102 RCV003936083 RCV003958319

Associations from Text Mining
Disease Name	Relationship Type	References
Hair Diseases	Associate	22592156, 22971920, 40282419
Hypotrichosis	Associate	22592156, 22971920
Loose Anagen Hair Syndrome	Associate	40282419
Neoplastic Syndromes Hereditary	Associate	22592156
Prediabetic State	Associate	35971929
Woolly hair congenital	Associate	22592156, 22971920