KRT71 (keratin 71)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (47)

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) Show/Hide all (17)

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
  PF00038	Filament	129 → 442	Intermediate filament protein	Coiled-coil
  PF16208	Keratin_2_head	55 → 126	Keratin type II head	Family

• 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 Pathway

Keratinization

Formation of the cornified envelope

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypotrichosis 13	Pathogenic	rs587777545	RCV000128639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	16316942	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT71-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	35131881	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR	—	Orphanet	22592156	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	BEFREE	30444027		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30321531		★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	20346438, 22592156, 22971920		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	22592156, 22971920	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	GENOMICS_ENGLAND_DG	22592156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 13	Hypotrichosis	GENOMICS_ENGLAND_DG	22592156		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 13	Hypotrichosis	UNIPROT_DG	22592156		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 13	Hypotrichosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	22592156, 22971920	Associate	★☆☆☆☆ Found in Text Mining only
Woolly hair, congenital	Woolly hair	ORPHANET_DG	22592156		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

KRT74 2 shared diseasesWoolly hair, Hypotrichosis 2 shared pathwaysKeratinization, Formation of the cornified envelope 5 shared evidence sourcesDisgenet (Hypotrichosis), CTD (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis), Orphanet (Woolly hair) Related via 2 shared diseases including Woolly hair, Hypotrichosis — evidence mostly Disgenet. KRT25 2 shared diseasesWoolly hair, Hypotrichosis 2 shared pathwaysKeratinization, Formation of the cornified envelope 2 shared evidence sourcesDisgenet (Hypotrichosis), Orphanet (Woolly hair) Related via 2 shared diseases including Woolly hair, Hypotrichosis — evidence mostly Disgenet. LPAR6 2 shared diseasesWoolly hair, Hypotrichosis 6 shared evidence sourcesDisgenet (Hypotrichosis), CTD (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis), GenCC (Hypotrichosis), Orphanet (Woolly hair) Related via 2 shared diseases including Woolly hair, Hypotrichosis — evidence mostly Disgenet. LIPH 2 shared diseasesWoolly hair, Hypotrichosis 5 shared evidence sourcesDisgenet (Hypotrichosis), CTD (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis), Orphanet (Woolly hair) Related via 2 shared diseases including Woolly hair, Hypotrichosis — evidence mostly Disgenet. DSG4 1 shared diseaseHypotrichosis 2 shared pathwaysKeratinization, Formation of the cornified envelope 3 shared evidence sourcesDisgenet (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis) Related via 2 shared pathways including Keratinization, Formation of the cornified envelope — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KRT74	2	["Woolly hair","Hypotrichosis"]	2	["Keratinization","Formation of the cornified envelope"]	5	["Disgenet (Hypotrichosis)","CTD (Hypotrichosis)","ClinVar (Hypotrichosis)","HPO (Hypotrichosis)","Orphanet (Woolly hair)"]
KRT25	2	["Woolly hair","Hypotrichosis"]	2	["Keratinization","Formation of the cornified envelope"]	2	["Disgenet (Hypotrichosis)","Orphanet (Woolly hair)"]
LPAR6	2	["Woolly hair","Hypotrichosis"]	0	[]	6	["Disgenet (Hypotrichosis)","CTD (Hypotrichosis)","ClinVar (Hypotrichosis)","HPO (Hypotrichosis)","GenCC (Hypotrichosis)","Orphanet (Woolly hair)"]
LIPH	2	["Woolly hair","Hypotrichosis"]	0	[]	5	["Disgenet (Hypotrichosis)","CTD (Hypotrichosis)","ClinVar (Hypotrichosis)","HPO (Hypotrichosis)","Orphanet (Woolly hair)"]
DSG4	1	["Hypotrichosis"]	2	["Keratinization","Formation of the cornified envelope"]	3	["Disgenet (Hypotrichosis)","ClinVar (Hypotrichosis)","HPO (Hypotrichosis)"]

Diseases Linked via Similar Genes

Hypotrichosis simplex Linked via 4 of 5 related genesKRT74, LPAR6, LIPH, DSG4 Ectodermal dysplasia Linked via 1 of 5 related genesKRT74 Venous thromboembolism Linked via 1 of 5 related genesKRT74 Major depressive disorder Linked via 1 of 5 related genesLPAR6 Diabetes mellitus type 2 Linked via 1 of 5 related genesLIPH

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hypotrichosis simplex	4	["KRT74","LPAR6","LIPH","DSG4"]
Ectodermal dysplasia	1	["KRT74"]
Venous thromboembolism	1	["KRT74"]
Major depressive disorder	1	["LPAR6"]
Diabetes mellitus type 2	1	["LIPH"]