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] See more...

Aliases for KRT71 Gene

Aliases for KRT71 Gene

  • Keratin 71 2 3 5
  • KRT6IRS1 2 3 4
  • K6IRS1 2 3 4
  • Type II Inner Root Sheath-Specific Keratin-K6irs1 3 4
  • Keratin, Type II Cytoskeletal 71 3 4
  • Type-II Keratin Kb34 3 4
  • Keratin 71, Type II 2 3
  • Cytokeratin-71 3 4
  • Keratin 6 Irs 3 4
  • KRT6IRS 2 3
  • HK6irs1 3 4
  • HK6irs 3 4
  • CK-71 3 4
  • K71 3 4
  • Keratin-71 4
  • HYPT13 3
  • KRT71 5
  • KB34 4

External Ids for KRT71 Gene

Previous GeneCards Identifiers for KRT71 Gene

  • GC12M051224
  • GC12M052939
  • GC12M049982

Summaries for KRT71 Gene

Entrez Gene Summary for KRT71 Gene

  • 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]

GeneCards Summary for KRT71 Gene

KRT71 (Keratin 71) is a Protein Coding gene. Diseases associated with KRT71 include Hypotrichosis 13 and Familial Woolly Hair Syndrome. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT73.

UniProtKB/Swiss-Prot Summary for KRT71 Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT71 Gene

Genomics for KRT71 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT71 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052941 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.2 -394.5 -394533 11.8 MYC IKZF1 NCOR1 ZNF600 SSRP1 JUND ZNF580 ZNF592 ATF2 KLF9 KRT18 HSALNG0091220 ZNF740 AAAS TARBP2 ENSG00000257808 MAP3K12 ATG101 NPFF SP1
GH12J052515 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +31.8 31779 12.1 ZIC2 DEK MAX CTBP1 MAFF SMC3 ZNF316 JUND FOSL2 MAFK KRT5 HSALNG0091189 HSALNG0091190 lnc-KRT6A-1 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2
GH12J052491 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +58.6 58588 6.4 ZIC2 CEBPB SIN3A STAT3 EBF1 JUND CTCF GLIS1 SP1 ATF7 KRT6A KRT6B JA662198 KRT6C KRT5 KRT71 KRT82 KRT84 KRT87P KRT86
GH12J052609 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 10.7 -57.9 -57856 17.2 ZIC2 USF2 RAD51 ATF4 TOE1 HDAC8 GLIS1 L3MBTL2 ZMYM3 ZFP3 KRT73-AS1 KRT72 KRT2 KRT1 KRT74 KRT71 KRT78 KRT4 KRT79 KRT76
GH12J052980 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.9 -427.8 -427751 1.4 ZNF207 ZNF600 MYC IKZF1 ZNF654 ZNF592 ZMYM3 ZNF10 ATF3 ZSCAN16 KRT18 MAP3K12 KRT71 KRT84 IGFBP6 SOAT2 PRR13 piR-61945-100 AB372643-005 EIF4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT71 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT71

Top Transcription factor binding sites by QIAGEN in the KRT71 gene promoter:
  • AML1a
  • E47
  • HTF
  • NRSF form 1
  • NRSF form 2
  • Roaz
  • RP58
  • STAT5A

Genomic Locations for KRT71 Gene

Latest Assembly
chr12:52,543,909-52,553,145
(GRCh38/hg38)
Size:
9,237 bases
Orientation:
Minus strand

Previous Assembly
chr12:52,937,693-52,946,929
(GRCh37/hg19 by Entrez Gene)
Size:
9,237 bases
Orientation:
Minus strand

chr12:52,937,693-52,946,931
(GRCh37/hg19 by Ensembl)
Size:
9,239 bases
Orientation:
Minus strand

Genomic View for KRT71 Gene

Genes around KRT71 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT71 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT71 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT71 Gene

Proteins for KRT71 Gene

  • Protein details for KRT71 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SY84-K2C71_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 71
    Protein Accession:
    Q3SY84
    Secondary Accessions:
    • B3KVC1
    • Q3SY85
    • Q96DU2

    Protein attributes for KRT71 Gene

    Size:
    523 amino acids
    Molecular mass:
    57292 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. Associates with KRT16 and/or KRT17 (By similarity).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT71 Gene

Post-translational modifications for KRT71 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT71 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT71 Gene

Domains & Families for KRT71 Gene

Gene Families for KRT71 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT71 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Protein kinase PKN/PRK1, effector
  • Type II keratin signature

Suggested Antigen Peptide Sequences for KRT71 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb34 (K2C71_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SY84

UniProtKB/Swiss-Prot:

K2C71_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT71: view

Function for KRT71 Gene

Molecular function for KRT71 Gene

UniProtKB/Swiss-Prot Function:
Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle.

Phenotypes From GWAS Catalog for KRT71 Gene

Gene Ontology (GO) - Molecular Function for KRT71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT71: view
genes like me logo Genes that share phenotypes with KRT71: view

Human Phenotype Ontology for KRT71 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for KRT71 Gene

miRTarBase miRNAs that target KRT71

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT71

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT71 Gene

Localization for KRT71 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT71 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT71 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
mitochondrion 3
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRT71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IDA 22592156
genes like me logo Genes that share ontologies with KRT71: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KRT71 Gene

Pathways & Interactions for KRT71 Gene

PathCards logo

SuperPathways for KRT71 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT71: view

Pathways by source for KRT71 Gene

2 Reactome pathways for KRT71 Gene

Gene Ontology (GO) - Biological Process for KRT71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031069 hair follicle morphogenesis IEA,IMP 22592156
GO:0031424 keratinization TAS --
GO:0045109 intermediate filament organization IMP 22592156
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT71: view

No data available for SIGNOR curated interactions for KRT71 Gene

Drugs & Compounds for KRT71 Gene

No Compound Related Data Available

Transcripts for KRT71 Gene

mRNA/cDNA for KRT71 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT71

Alternative Splicing Database (ASD) splice patterns (SP) for KRT71 Gene

No ASD Table

Relevant External Links for KRT71 Gene

GeneLoc Exon Structure for
KRT71

Expression for KRT71 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT71 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT71 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x41.6) and Skin - Sun Exposed (Lower leg) (x8.8).

Protein differential expression in normal tissues from HIPED for KRT71 Gene

This gene is overexpressed in Hair follicle (45.5) and Saliva (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT71 Gene



Protein tissue co-expression partners for KRT71 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT71

SOURCE GeneReport for Unigene cluster for KRT71 Gene:

Hs.660007

mRNA Expression by UniProt/SwissProt for KRT71 Gene:

Q3SY84-K2C71_HUMAN
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).

Evidence on tissue expression from TISSUES for KRT71 Gene

  • Skin(4.3)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT71 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with KRT71: view

Primer products for research

Orthologs for KRT71 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT71 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT71 29 30
  • 98.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT71 29 30
  • 91.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT71 29
  • 90.38 (n)
Rat
(Rattus norvegicus)
Mammalia Krt71 29
  • 88.19 (n)
Mouse
(Mus musculus)
Mammalia Krt71 29 16 30
  • 88.06 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 76 (a)
ManyToMany
-- 30
  • 75 (a)
ManyToMany
-- 30
  • 71 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves LOC768881 29
  • 66.59 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 47 (a)
ManyToMany
Species where no ortholog for KRT71 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT71 Gene

ENSEMBL:
Gene Tree for KRT71 (if available)
TreeFam:
Gene Tree for KRT71 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT71: view image
Alliance of Genome Resources:
Additional Orthologs for KRT71

Paralogs for KRT71 Gene

(35) SIMAP similar genes for KRT71 Gene using alignment to 1 proteins:

  • K2C71_HUMAN
genes like me logo Genes that share paralogs with KRT71: view

Variants for KRT71 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT71 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1028520 Uncertain Significance: Hypotrichosis 13 52,545,576(-) G/A
NM_033448.3(KRT71):c.1349C>T (p.Pro450Leu)
MISSENSE
1031561 Pathogenic: Hypotrichosis 13 52,552,636(-) C/A
NM_033448.3(KRT71):c.441+1G>T
SPLICE_DONOR
rs112987888 Benign: not provided 52,544,728(-) G/C
NM_033448.3(KRT71):c.1376C>G (p.Thr459Ser)
MISSENSE
rs139213570 Benign: not provided 52,550,070(-) C/T
NM_033448.3(KRT71):c.615G>A (p.Glu205=)
SYNONYMOUS
rs139703366 Benign: not provided 52,550,169(-) G/A
NM_033448.3(KRT71):c.516C>T (p.Asn172=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT71 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRT71 Gene

Variant ID Type Subtype PubMed ID
nsv1038939 CNV loss 25217958
nsv1041903 CNV gain 25217958
nsv558933 CNV loss 21841781
nsv709 CNV insertion 18451855
nsv832412 CNV loss 17160897

Variation tolerance for KRT71 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.75; 98.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT71 Gene

Human Gene Mutation Database (HGMD)
KRT71
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT71
Leiden Open Variation Database (LOVD)
KRT71

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT71 Gene

Disorders for KRT71 Gene

MalaCards: The human disease database

(13) MalaCards diseases for KRT71 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KRT71 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C71_HUMAN
  • Hypotrichosis 13 (HYPT13) [MIM:615896]: A 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 an autosomal dominant form characterized by sparse woolly hair. {ECO:0000269 PubMed:22592156}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KRT71

genes like me logo Genes that share disorders with KRT71: view

No data available for Genatlas for KRT71 Gene

Publications for KRT71 Gene

  1. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. (PMID: 12648212) Langbein L … Schweizer J (The Journal of investigative dermatology 2003) 2 3 4 22
  2. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. (PMID: 22592156) Fujimoto A … Shimomura Y (The Journal of investigative dermatology 2012) 3 4 72
  3. A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized huxley cells (Flügelzellen) of the human hair follicle. (PMID: 11982755) Langbein L … Schweizer J (The Journal of investigative dermatology 2002) 2 3 4
  4. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for KRT71 Gene

Sources for KRT71 Gene