Human Gene KRT72 (ENST00000293745.7_10) from GENCODE V47lift37
  Description: keratin 72, transcript variant 1 (from RefSeq NM_080747.3)
Gencode Transcript: ENST00000293745.7_10
Gencode Gene: ENSG00000170486.11_15
Transcript (Including UTRs)
   Position: hg19 chr12:52,979,373-52,995,247 Size: 15,875 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:52,979,766-52,995,236 Size: 15,471 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:52,979,373-52,995,247)mRNA (may differ from genome)Protein (511 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K2C72_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 72; AltName: Full=Cytokeratin-72; Short=CK-72; AltName: Full=Keratin-72; Short=K72; AltName: Full=Type II inner root sheath-specific keratin-K6irs2; AltName: Full=Type-II keratin Kb35;
FUNCTION: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
SUBUNIT: Heterotetramer of two type I and two type II keratins.
TISSUE SPECIFICITY: Highly expressed in hair follicles from scalp and eyebrow. Also expressed in palmoplantar epidermis. Not expressed in face skin despite the presence of fine hairs histologically. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS cuticle, but not in Henle or Huxley layers of the IRS. In the IRS cuticle, its presence is delayed up to the height of the apex of the dermal papilla (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.
CAUTION: Was initially thought to be the ortholog of mouse KRT71 (PubMed:11703281).
SEQUENCE CAUTION: Sequence=BAC04039.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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


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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.84 RPKM in Testis
Total median expression: 40.83 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -95.90393-0.244 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
PF16208 - Keratin type II head

SCOP Domains:
46579 - Prefoldin
47661 - t-snare proteins
69754 - Ribosome binding protein Y (YfiA homologue)
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q14CN4
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005198 structural molecule activity
GO:0005515 protein binding

Biological Process:
GO:0008150 biological_process
GO:0031424 keratinization
GO:0070268 cornification

Cellular Component:
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK093060 - Homo sapiens cDNA FLJ35741 fis, clone TESTI2004163, moderately similar to Mus musculus mRNA for type II cytokeratin.
AX747893 - Sequence 1418 from Patent EP1308459.
AY033495 - Homo sapiens keratin protein K6irs (KRT6) mRNA, complete cds.
JD518726 - Sequence 499750 from Patent EP1572962.
JD217254 - Sequence 198278 from Patent EP1572962.
JD392214 - Sequence 373238 from Patent EP1572962.
AK293645 - Homo sapiens cDNA FLJ60438 complete cds, highly similar to Homo sapiens keratin protein K6irs (K6IRS2), mRNA.
JD120729 - Sequence 101753 from Patent EP1572962.
JD055367 - Sequence 36391 from Patent EP1572962.
BC113686 - Homo sapiens keratin 72, mRNA (cDNA clone MGC:142246 IMAGE:8322738), complete cds.
JD549024 - Sequence 530048 from Patent EP1572962.
AK302016 - Homo sapiens cDNA FLJ50908 complete cds, highly similar to Homo sapiens keratin protein K6irs (K6IRS2), mRNA.
HQ258454 - Synthetic construct Homo sapiens clone IMAGE:100072883 keratin 72 (KRT72) gene, encodes complete protein.
KJ900203 - Synthetic construct Homo sapiens clone ccsbBroadEn_09597 KRT72 gene, encodes complete protein.

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

Protein Q14CN4 (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: B4DEI8, ENST00000293745.1, ENST00000293745.2, ENST00000293745.3, ENST00000293745.4, ENST00000293745.5, ENST00000293745.6, H9KV51, K2C72_HUMAN, K6IRS2, KB35, KRT6, KRT6IRS2, NM_080747, Q14CN4, Q8NA87, Q8WWY9, Q8WWZ0, uc317lel.1, uc317lel.2
UCSC ID: ENST00000293745.7_10
RefSeq Accession: NM_080747.3
Protein: Q14CN4 (aka K2C72_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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