Human Gene KRTAP12-4 (uc002zfs.1) Description and Page Index
  Description: Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr21:46,074,130-46,074,576 Size: 447 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr21:46,074,193-46,074,531 Size: 339 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsGene AllelesRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:46,074,130-46,074,576)mRNA (may differ from genome)Protein (112 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtPubMed
ReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: KR124_HUMAN
DESCRIPTION: RecName: Full=Keratin-associated protein 12-4; AltName: Full=High sulfur keratin-associated protein 12.4; AltName: Full=Keratin-associated protein 12.4;
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: Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.
SIMILARITY: Belongs to the KRTAP type 12 family.

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.06 RPKM in Testis
Total median expression: 0.06 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 -0.5045-0.011 Picture PostScript Text
3' UTR -23.2063-0.368 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:
PF13885 - Keratin, high sulfur B2 protein

ModBase Predicted Comparative 3D Structure on P60329
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
  AB076360 - Homo sapiens KRTAP12.4 mRNA for keratin associated protein, complete cds.
BC125198 - Homo sapiens keratin associated protein 12-4, mRNA (cDNA clone MGC:150594 IMAGE:40123223), complete cds.
KJ900687 - Synthetic construct Homo sapiens clone ccsbBroadEn_10081 KRTAP12-4 gene, encodes complete protein.

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

Protein P60329 (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: KAP12.4, KR124_HUMAN, KRTAP12.4, NM_198698, NP_941971, P60329, Q08AF5
UCSC ID: uc002zfs.1
RefSeq Accession: NM_198698
Protein: P60329 (aka KR124_HUMAN or K124_HUMAN)
CCDS: CCDS42963.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198698.1
exon count: 1CDS single in 3' UTR: no RNA size: 447
ORF size: 339CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 878.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.