Human Gene KRT31 (ENST00000251645.3_7) from GENCODE V47lift37
  Description: keratin 31 (from RefSeq NM_002277.3)
Gencode Transcript: ENST00000251645.3_7
Gencode Gene: ENSG00000094796.5_9
Transcript (Including UTRs)
   Position: hg19 chr17:39,549,973-39,553,860 Size: 3,888 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr17:39,550,268-39,553,791 Size: 3,524 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,549,973-39,553,860)mRNA (may differ from genome)Protein (416 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K1H1_HUMAN
DESCRIPTION: RecName: Full=Keratin, type I cuticular Ha1; AltName: Full=Hair keratin, type I Ha1; AltName: Full=Keratin-31; Short=K31;
TISSUE SPECIFICITY: Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla.
MISCELLANEOUS: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).
SIMILARITY: Belongs to the intermediate filament family.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: KRT31
Diseases sorted by gene-association score: skin pilomatrix carcinoma (17), nodular basal cell carcinoma (7)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.83 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 91.41 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 -12.9069-0.187 Picture PostScript Text
3' UTR -85.40295-0.289 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
IPR002957 - Keratin_I

Pfam Domains:
PF00038 - Intermediate filament protein

SCOP Domains:
46579 - Prefoldin
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57959 - Leucine zipper domain
58064 - Influenza hemagglutinin (stalk)

ModBase Predicted Comparative 3D Structure on Q15323
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0008544 epidermis development
GO:0031424 keratinization
GO:0070268 cornification

Cellular Component:
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  X86570 - Homo sapiens mRNA for acidic hair keratin 1.
JD070053 - Sequence 51077 from Patent EP1572962.
BC114468 - Homo sapiens keratin 31, mRNA (cDNA clone MGC:138630 IMAGE:40032590), complete cds.
JD152858 - Sequence 133882 from Patent EP1572962.
JD146258 - Sequence 127282 from Patent EP1572962.
AK313419 - Homo sapiens cDNA, FLJ93957.
KJ891526 - Synthetic construct Homo sapiens clone ccsbBroadEn_00920 KRT31 gene, encodes complete protein.
JD119466 - Sequence 100490 from Patent EP1572962.
JD147016 - Sequence 128040 from Patent EP1572962.

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

Protein Q15323 (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: ENST00000251645.1, ENST00000251645.2, HHA1, HKA1, K1H1_HUMAN, KRTHA1, NM_002277, Q15323, Q9UE12, uc317few.1, uc317few.2
UCSC ID: ENST00000251645.3_7
RefSeq Accession: NM_002277.3
Protein: Q15323 (aka K1H1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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