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Protein

Keratin, type II cytoskeletal 71

Gene

KRT71

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei381Stutter1

GO - Molecular functioni

GO - Biological processi

  • cornification Source: Reactome
  • hair follicle morphogenesis Source: UniProtKB
  • intermediate filament organization Source: UniProtKB
  • keratinization Source: Reactome

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

EuPathDBiHostDB:ENSG00000139648.6
HGNCiHGNC:28927 KRT71
MIMi608245 gene
neXtProtiNX_Q3SY84

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs587777545EnsemblClinVar.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
ProteomicsDBi61847

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

Organism-specific databases

HPAiHPA049404

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

Show more details

Protein-protein interaction databases

BioGridi125205, 11 interactors
IntActiQ3SY84, 23 interactors
STRINGi9606.ENSP00000267119

Structurei

3D structure databases

ProteinModelPortaliQ3SY84
SMRiQ3SY84
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini130 – 443IF rodPROSITE-ProRule annotationAdd BLAST314

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 129HeadAdd BLAST129
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.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032444 Keratin_2_head
IPR003054 Keratin_II
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PRINTSiPR01276 TYPE2KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

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 dbSNP:rs665522Ensembl.1
Natural variantiVAR_038083122E → K. Corresponds to variant dbSNP:rs665470Ensembl.1
Natural variantiVAR_071406141F → C in HYPT13; dominant negative; decreased keratin intermediate filament formation. 1 PublicationCorresponds to variant dbSNP:rs587777545EnsemblClinVar.1
Natural variantiVAR_038084355I → F. Corresponds to variant dbSNP:rs35988863Ensembl.1
Natural variantiVAR_038085464V → G2 PublicationsCorresponds to variant dbSNP:rs10783518Ensembl.1
Natural variantiVAR_038086523R → Q. Corresponds to variant dbSNP:rs2292506Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiK2C71_HUMAN
AccessioniPrimary (citable) accession number: Q3SY84
Secondary accession number(s): B3KVC1, Q3SY85, Q96DU2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 114 of the entry and version 3 of the sequence. See 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

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

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