KRT71 (keratin 71)

Gene

• Entrez ID: 112802
• Gene name: Keratin 71
• Gene symbol: KRT71
• Synonyms: 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:0005829	Component	Cytosol	TAS
GO:0031069	Process	Hair follicle morphogenesis	IMP	22592156
GO:0031424	Process	Keratinization	TAS
GO:0045095	Component	Keratin filament	IDA	22592156
GO:0045109	Process	Intermediate filament organization	IMP	22592156
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070268	Process	Cornification	TAS

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

• Sequence:

  MSRQFTCKSGAAAKGGFSGCSAVLSGGSSSSFRAGSKGLSGGFGSRSLYSLGGVRSLNVA
  SGSGKSGGYGFGRGRASGFAGSMFGSVALGPVCPTVCPPGGIHQVTVNESLLAPLNVELD
  PEIQKVRAQEREQIKALNNKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKNNLEPI
  LEGYISNLRKQLETLSGDRVRLDSELRNVRDVVEDYKKRYEEEINKRTAAENEFVLLKKD
  VDAAYANKVELQAKVESMDQEIKFFRCLFEAEITQIQSHISDMSVILSMDNNRNLDLDSI
  IDEVRTQYEEIALKSKAEAEALYQTKFQELQLAAGRHGDDLKNTKNEISELTRLIQRIRS
  EIENVKKQASNLETAIADAEQRGDNALKDARAKLDELEGALHQAKEELARMLREYQELMS
  LKLALDMEIATYRKLLESEECRMSGEFPSPVSISIISSTSGGSVYGFRPSMVSGGYVANS
  SNCISGVCSVRGGEGRSRGSANDYKDTLGKGSSLSAPSKKTSR

• Sequence length: 523

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16316942
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Hypotrichosis	Hypotrichosis, HYPOTRICHOSIS 13	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121	22592156

Unknown
Disease name	Disease term	dbSNP ID	References
Anaplastic carcinoma	Anaplastic carcinoma		16316942
Strabismus	Strabismus
Woolly hair	Woolly hair, congenital		22592156