Human Gene KRTAP4-11 (ENST00000391413.4_6) from GENCODE V47lift37
  Description: keratin associated protein 4-11 (from RefSeq NM_033059.4)
Gencode Transcript: ENST00000391413.4_6
Gencode Gene: ENSG00000212721.4_8
Transcript (Including UTRs)
   Position: hg19 chr17:39,273,433-39,274,625 Size: 1,193 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr17:39,273,980-39,274,567 Size: 588 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,273,433-39,274,625)mRNA (may differ from genome)Protein (195 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KR411_HUMAN
DESCRIPTION: RecName: Full=Keratin-associated protein 4-11; AltName: Full=Keratin-associated protein 4-14; AltName: Full=Keratin-associated protein 4.11; AltName: Full=Keratin-associated protein 4.14; AltName: Full=Ultrahigh sulfur keratin-associated protein 4.14;
FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins.
SUBUNIT: Interacts with hair keratins.
TISSUE SPECIFICITY: Expressed in the hair follicles.
POLYMORPHISM: Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments.
SIMILARITY: Belongs to the KRTAP type 4 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


+  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: 0.00 RPKM in Adipose - Subcutaneous
Total median expression: 0.00 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
5' UTR -2.6058-0.045 Picture PostScript Text
3' UTR -105.40547-0.193 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
IPR002494 - Keratin-assoc

Pfam Domains:
PF01500 - Keratin, high sulfur B2 protein
PF13885 - Keratin, high sulfur B2 protein

ModBase Predicted Comparative 3D Structure on Q9BYQ6
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 Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0031424 keratinization

Cellular Component:
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament


-  Descriptions from all associated GenBank mRNAs
  AJ406944 - Homo sapiens mRNA for keratin associated protein 4.14 (KRTAP4.14 gene).
JD081913 - Sequence 62937 from Patent EP1572962.
BC126131 - Homo sapiens keratin associated protein 4-11, mRNA (cDNA clone MGC:161409 IMAGE:8991847), complete cds.
BC130562 - Homo sapiens keratin associated protein 4-11, mRNA (cDNA clone MGC:163434 IMAGE:40146593), complete cds.
JD113698 - Sequence 94722 from Patent EP1572962.
JD520099 - Sequence 501123 from Patent EP1572962.
JD358530 - Sequence 339554 from Patent EP1572962.
JD527848 - Sequence 508872 from Patent EP1572962.
JD385748 - Sequence 366772 from Patent EP1572962.
JD048655 - Sequence 29679 from Patent EP1572962.
JD367793 - Sequence 348817 from Patent EP1572962.
JD154153 - Sequence 135177 from Patent EP1572962.
JD154152 - Sequence 135176 from Patent EP1572962.

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

Protein Q9BYQ6 (Reactome details) participates in the following event(s):

R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A0AUY2, ENST00000391413.1, ENST00000391413.2, ENST00000391413.3, KAP4.14, KR411_HUMAN, KRTAP4-14, KRTAP4.11, KRTAP4.14, NM_033059, Q9BYQ6, uc318umf.1, uc318umf.2
UCSC ID: ENST00000391413.4_6
RefSeq Accession: NM_033059.4
Protein: Q9BYQ6 (aka KR411_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.