Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	112802
Gene name	Keratin 71
Gene symbol	KRT71
Synonyms (NCBI Gene)	HYPT13K6IRS1KRT6IRSKRT6IRS1
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

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

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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

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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

MIM	HGNC	e!Ensembl
608245	28927	ENSG00000139648

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

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

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)

Show/Hide Causal Diseases (1)

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

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	GENOMICS_ENGLAND_DG	22592156		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	Pubtator	22592156, 22971920	Associate	★★★★★ ★★☆☆☆ 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

KRT71 (keratin 71)