Human Gene KRTAP24-1 (ENST00000340345.6_6) from GENCODE V47lift37
  Description: keratin associated protein 24-1 (from RefSeq NM_001085455.3)
Gencode Transcript: ENST00000340345.6_6
Gencode Gene: ENSG00000188694.6_8
Transcript (Including UTRs)
   Position: hg19 chr21:31,653,627-31,655,268 Size: 1,642 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr21:31,654,486-31,655,250 Size: 765 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:31,653,627-31,655,268)mRNA (may differ from genome)Protein (254 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KR241_HUMAN
DESCRIPTION: RecName: Full=Keratin-associated protein 24-1;
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 (By similarity).
TISSUE SPECIFICITY: Specific expression in the middle/upper hair cuticle.
MISCELLANEOUS: Has a low cysteine content when compared to the majority of known KAP family members. Possesses several C-terminal tyrosine-containing tandem decameric repeat structures.
SIMILARITY: Belongs to the PMG family.
CAUTION: It is uncertain whether Met-1 or Met-6 is the initiator.

-  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
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.04 RPKM in Testis
Total median expression: 0.04 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.4018-0.133 Picture PostScript Text
3' UTR -188.00859-0.219 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
IPR007659 - Keratin_matx
IPR007951 - PMG

Pfam Domains:
PF05287 - PMG protein

ModBase Predicted Comparative 3D Structure on Q3LI83
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity

Biological Process:
GO:0031424 keratinization

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


-  Descriptions from all associated GenBank mRNAs
  AM238513 - Homo sapiens mRNA for hair keratin associated protein (krtap24-1 gene).
AB096935 - Homo sapiens KRTAP24-1 mRNA for keratin associated protein, complete cds.

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

Protein Q3LI83 (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: ENST00000340345.1, ENST00000340345.2, ENST00000340345.3, ENST00000340345.4, ENST00000340345.5, KAP24.1, KR241_HUMAN, NM_001085455, Q1XDX0, Q3LI83, uc317vqi.1, uc317vqi.2
UCSC ID: ENST00000340345.6_6
RefSeq Accession: NM_001085455.3
Protein: Q3LI83 (aka KR241_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.