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Protein

Keratin, type II cytoskeletal 71

Gene

KRT71

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei381Stutter1

GO - Molecular functioni

GO - Biological processi

  • hair follicle morphogenesis Source: UniProtKB
  • intermediate filament organization Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 71
Alternative name(s):
Cytokeratin-71
Short name:
CK-71
Keratin-71
Short name:
K71
Type II inner root sheath-specific keratin-K6irs1
Short name:
Keratin 6 irs
Short name:
hK6irs
Short name:
hK6irs1
Type-II keratin Kb34
Gene namesi
Name:KRT71
Synonyms:K6IRS1, KB34, KRT6IRS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:28927. KRT71.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-KW
  • extracellular exosome Source: UniProtKB
  • keratin filament Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Hypotrichosis 13 (HYPT13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is characterized by sparse woolly hair.
See also OMIM:615896
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071406141F → C in HYPT13; dominant negative; decreased keratin intermediate filament formation. 1 PublicationCorresponds to variant rs587777545dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNETi112802.
MalaCardsiKRT71.
MIMi615896. phenotype.
OpenTargetsiENSG00000139648.
Orphaneti170. Woolly hair.
PharmGKBiPA147357697.

Polymorphism and mutation databases

BioMutaiKRT71.
DMDMi296439318.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148741 – 523Keratin, type II cytoskeletal 71Add BLAST523

Proteomic databases

EPDiQ3SY84.
PaxDbiQ3SY84.
PeptideAtlasiQ3SY84.
PRIDEiQ3SY84.

PTM databases

iPTMnetiQ3SY84.
PhosphoSitePlusiQ3SY84.
SwissPalmiQ3SY84.

Expressioni

Tissue specificityi

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 of specialized Huxley cells, termed Fluegelzellen, along the area of differentiated Henle cells (at protein level).4 Publications

Developmental stagei

In all 3 IRS layers, expression begins simultaneously in adjacent cells of the lowermost bulb above the germinative cell pool and terminated higher up in the follicle with the asynchronous terminal differentiation of each cell layer (at protein level).

Gene expression databases

BgeeiENSG00000139648.
CleanExiHS_KRT71.
GenevisibleiQ3SY84. HS.

Interactioni

Subunit structurei

Heterodimer of a type I and a type II keratin. Associates with KRT16 and/or KRT17 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT13A1A4E93EBI-2952676,EBI-10171552
KRT15P190125EBI-2952676,EBI-739566
KRT31Q153235EBI-2952676,EBI-948001
KRT38O760155EBI-2952676,EBI-1047263
KRT40Q6A1625EBI-2952676,EBI-10171697

Protein-protein interaction databases

BioGridi125205. 10 interactors.
IntActiQ3SY84. 23 interactors.
STRINGi9606.ENSP00000267119.

Structurei

3D structure databases

ProteinModelPortaliQ3SY84.
SMRiQ3SY84.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 129HeadAdd BLAST129
Regioni130 – 439RodAdd BLAST310
Regioni130 – 165Coil 1AAdd BLAST36
Regioni166 – 184Linker 1Add BLAST19
Regioni185 – 276Coil 1BAdd BLAST92
Regioni277 – 300Linker 12Add BLAST24
Regioni301 – 439Coil 2Add BLAST139
Regioni440 – 523TailAdd BLAST84

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi10 – 101Gly-richAdd BLAST92

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IQKP. Eukaryota.
ENOG4111AD7. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ3SY84.
KOiK07605.
OMAiSSGYGFR.
OrthoDBiEOG091G09KR.
PhylomeDBiQ3SY84.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q3SY84-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRQFTCKSG AAAKGGFSGC SAVLSGGSSS SFRAGSKGLS GGFGSRSLYS
60 70 80 90 100
LGGVRSLNVA SGSGKSGGYG FGRGRASGFA GSMFGSVALG PVCPTVCPPG
110 120 130 140 150
GIHQVTVNES LLAPLNVELD PEIQKVRAQE REQIKALNNK FASFIDKVRF
160 170 180 190 200
LEQQNQVLET KWELLQQLDL NNCKNNLEPI LEGYISNLRK QLETLSGDRV
210 220 230 240 250
RLDSELRNVR DVVEDYKKRY EEEINKRTAA ENEFVLLKKD VDAAYANKVE
260 270 280 290 300
LQAKVESMDQ EIKFFRCLFE AEITQIQSHI SDMSVILSMD NNRNLDLDSI
310 320 330 340 350
IDEVRTQYEE IALKSKAEAE ALYQTKFQEL QLAAGRHGDD LKNTKNEISE
360 370 380 390 400
LTRLIQRIRS EIENVKKQAS NLETAIADAE QRGDNALKDA RAKLDELEGA
410 420 430 440 450
LHQAKEELAR MLREYQELMS LKLALDMEIA TYRKLLESEE CRMSGEFPSP
460 470 480 490 500
VSISIISSTS GGSVYGFRPS MVSGGYVANS SNCISGVCSV RGGEGRSRGS
510 520
ANDYKDTLGK GSSLSAPSKK TSR
Length:523
Mass (Da):57,292
Last modified:May 18, 2010 - v3
Checksum:i797F5655EE3A62D7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti210R → Q in AAI03919 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038082107V → I.Corresponds to variant rs665522dbSNPEnsembl.1
Natural variantiVAR_038083122E → K.Corresponds to variant rs665470dbSNPEnsembl.1
Natural variantiVAR_071406141F → C in HYPT13; dominant negative; decreased keratin intermediate filament formation. 1 PublicationCorresponds to variant rs587777545dbSNPEnsembl.1
Natural variantiVAR_038084355I → F.Corresponds to variant rs35988863dbSNPEnsembl.1
Natural variantiVAR_038085464V → G.2 PublicationsCorresponds to variant rs10783518dbSNPEnsembl.1
Natural variantiVAR_038086523R → Q.Corresponds to variant rs2292506dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ308599 mRNA. Translation: CAC43429.1.
AK122795 mRNA. Translation: BAG53733.1.
AC055736 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW96636.1.
BC103917 mRNA. Translation: AAI03918.1.
BC103918 mRNA. Translation: AAI03919.1.
CCDSiCCDS8831.1.
RefSeqiNP_258259.1. NM_033448.2.
UniGeneiHs.660007.

Genome annotation databases

EnsembliENST00000267119; ENSP00000267119; ENSG00000139648.
GeneIDi112802.
KEGGihsa:112802.
UCSCiuc001sao.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ308599 mRNA. Translation: CAC43429.1.
AK122795 mRNA. Translation: BAG53733.1.
AC055736 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW96636.1.
BC103917 mRNA. Translation: AAI03918.1.
BC103918 mRNA. Translation: AAI03919.1.
CCDSiCCDS8831.1.
RefSeqiNP_258259.1. NM_033448.2.
UniGeneiHs.660007.

3D structure databases

ProteinModelPortaliQ3SY84.
SMRiQ3SY84.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125205. 10 interactors.
IntActiQ3SY84. 23 interactors.
STRINGi9606.ENSP00000267119.

PTM databases

iPTMnetiQ3SY84.
PhosphoSitePlusiQ3SY84.
SwissPalmiQ3SY84.

Polymorphism and mutation databases

BioMutaiKRT71.
DMDMi296439318.

Proteomic databases

EPDiQ3SY84.
PaxDbiQ3SY84.
PeptideAtlasiQ3SY84.
PRIDEiQ3SY84.

Protocols and materials databases

DNASUi112802.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267119; ENSP00000267119; ENSG00000139648.
GeneIDi112802.
KEGGihsa:112802.
UCSCiuc001sao.3. human.

Organism-specific databases

CTDi112802.
DisGeNETi112802.
GeneCardsiKRT71.
H-InvDBHIX0026399.
HGNCiHGNC:28927. KRT71.
MalaCardsiKRT71.
MIMi608245. gene.
615896. phenotype.
neXtProtiNX_Q3SY84.
OpenTargetsiENSG00000139648.
Orphaneti170. Woolly hair.
PharmGKBiPA147357697.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQKP. Eukaryota.
ENOG4111AD7. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ3SY84.
KOiK07605.
OMAiSSGYGFR.
OrthoDBiEOG091G09KR.
PhylomeDBiQ3SY84.
TreeFamiTF317854.

Enzyme and pathway databases

ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GenomeRNAii112802.
PROiQ3SY84.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139648.
CleanExiHS_KRT71.
GenevisibleiQ3SY84. HS.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiK2C71_HUMAN
AccessioniPrimary (citable) accession number: Q3SY84
Secondary accession number(s): B3KVC1, Q3SY85, Q96DU2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 104 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.