Human Gene KRT71 (ENST00000267119.6) from GENCODE V44
  Description: Homo sapiens keratin 71 (KRT71), mRNA. (from RefSeq NM_033448)
RefSeq Summary (NM_033448): 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 follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009].
Gencode Transcript: ENST00000267119.6
Gencode Gene: ENSG00000139648.7
Transcript (Including UTRs)
   Position: hg38 chr12:52,543,909-52,553,145 Size: 9,237 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr12:52,544,532-52,553,077 Size: 8,546 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:52,543,909-52,553,145)mRNA (may differ from genome)Protein (523 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K2C71_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 71; AltName: Full=Cytokeratin-71; Short=CK-71; AltName: Full=Keratin-71; Short=K71; AltName: Full=Type II inner root sheath-specific keratin-K6irs1; Short=Keratin 6 irs; Short=hK6irs; Short=hK6irs1; AltName: Full=Type-II keratin Kb34;
FUNCTION: Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
SUBUNIT: Heterodimer of a type I and a type II keratin. Associates with KRT16 and/or KRT17 (By similarity).
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 of specialized Huxley cells, termed Fluegelzellen, along the area of differentiated Henle cells (at protein level).
DEVELOPMENTAL STAGE: 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).
MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively).
SIMILARITY: Belongs to the intermediate filament family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KRT71
Diseases sorted by gene-association score: hypotrichosis 13* (1378), woolly hair syndrome* (175), hypotrichosis (12)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.31 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 0.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.8068-0.144 Picture PostScript Text
3' UTR -183.60623-0.295 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR003054 - Keratin_II

Pfam Domains:
PF00038 - Intermediate filament protein

ModBase Predicted Comparative 3D Structure on Q3SY84
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding

Biological Process:
GO:0031069 hair follicle morphogenesis
GO:0031424 keratinization
GO:0045109 intermediate filament organization
GO:0070268 cornification

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0045095 keratin filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AJ308601 - Homo sapiens partial mRNA for truncated keratin 6 irs transcript (KRT6IRS gene), clone scl243.
AJ308600 - Homo sapiens partial mRNA for nonsensical transcript of keratin 6 irs (KRT6IRS gene), clone scl204.
AJ308599 - Homo sapiens mRNA for keratin 6 irs (KRT6IRS gene).
JD528116 - Sequence 509140 from Patent EP1572962.
AK122795 - Homo sapiens cDNA FLJ16362 fis, clone THYMU2030912, highly similar to Homo sapiens keratin 6 irs (KRT6IRS), mRNA.
JD549275 - Sequence 530299 from Patent EP1572962.
BC103917 - Homo sapiens keratin 71, mRNA (cDNA clone MGC:119390 IMAGE:40006780), complete cds.
BC103918 - Homo sapiens keratin 71, mRNA (cDNA clone MGC:119391 IMAGE:40006781), complete cds.
JD078689 - Sequence 59713 from Patent EP1572962.
JD122149 - Sequence 103173 from Patent EP1572962.
JD123731 - Sequence 104755 from Patent EP1572962.
JD207049 - Sequence 188073 from Patent EP1572962.
JD267551 - Sequence 248575 from Patent EP1572962.
JD261354 - Sequence 242378 from Patent EP1572962.
JD432280 - Sequence 413304 from Patent EP1572962.
JD099860 - Sequence 80884 from Patent EP1572962.
JD541789 - Sequence 522813 from Patent EP1572962.
JD149870 - Sequence 130894 from Patent EP1572962.
JD464196 - Sequence 445220 from Patent EP1572962.
JD115005 - Sequence 96029 from Patent EP1572962.
EU832765 - Synthetic construct Homo sapiens clone HAIB:100067794; DKFZo008A0833 keratin 71 protein (KRT71) gene, encodes complete protein.
GQ129308 - Synthetic construct Homo sapiens clone HAIB:100068455; DKFZo004A0834 keratin 71 protein (KRT71) gene, partial cds.
KJ899985 - Synthetic construct Homo sapiens clone ccsbBroadEn_09379 KRT71 gene, encodes complete protein.
JD402452 - Sequence 383476 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q3SY84 (Reactome details) participates in the following event(s):

R-HSA-6805546 Keratin type I binds keratin type II
R-HSA-6805573 Keratin type I/type II heterodimers form tetramers
R-HSA-6806613 Keratin tetramers bind to form unit length filaments
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B3KVC1, ENST00000267119.1, ENST00000267119.2, ENST00000267119.3, ENST00000267119.4, ENST00000267119.5, K2C71_HUMAN, K6IRS1, KB34, KRT6IRS1, NM_033448, Q3SY84, Q3SY85, Q96DU2, uc001sao.1, uc001sao.2, uc001sao.3, uc001sao.4
UCSC ID: ENST00000267119.6
RefSeq Accession: NM_033448
Protein: Q3SY84 (aka K2C71_HUMAN)
CCDS: CCDS8831.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.