Human Gene KRT85 (ENST00000257901.7_6) from GENCODE V45lift37
  Description: Homo sapiens keratin 85 (KRT85), transcript variant 1, mRNA. (from RefSeq NM_002283)
RefSeq Summary (NM_002283): The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000257901.7_6
Gencode Gene: ENSG00000135443.8_7
Transcript (Including UTRs)
   Position: hg19 chr12:52,753,790-52,761,265 Size: 7,476 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:52,754,637-52,761,189 Size: 6,553 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
GO AnnotationsmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:52,753,790-52,761,265)mRNA (may differ from genome)Protein (507 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KRT85_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cuticular Hb5; AltName: Full=Hair keratin K2.12; AltName: Full=Keratin-85; Short=K85; AltName: Full=Type II hair keratin Hb5; AltName: Full=Type-II keratin Kb25;
SUBUNIT: Heterotetramer of two type I and two type II keratins.
INTERACTION: P78386; O95833: CLIC3; NbExp=3; IntAct=EBI-1049371, EBI-10192241; P78386; Q02930-3: CREB5; NbExp=3; IntAct=EBI-1049371, EBI-10192698; P78386; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-1049371, EBI-3867333; P78386; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-1049371, EBI-11975289; P78386; Q9GZV7: HAPLN2; NbExp=3; IntAct=EBI-1049371, EBI-11956675; P78386; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-1049371, EBI-6426443; P78386; P19012: KRT15; NbExp=3; IntAct=EBI-1049371, EBI-739566; P78386; P08779: KRT16; NbExp=3; IntAct=EBI-1049371, EBI-356410; P78386; P08727: KRT19; NbExp=3; IntAct=EBI-1049371, EBI-742756; P78386; Q7Z3Z0: KRT25; NbExp=5; IntAct=EBI-1049371, EBI-11980019; P78386; Q7Z3Y9: KRT26; NbExp=3; IntAct=EBI-1049371, EBI-12084444; P78386; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-1049371, EBI-3044087; P78386; Q15323: KRT31; NbExp=3; IntAct=EBI-1049371, EBI-948001; P78386; Q14525: KRT33B; NbExp=3; IntAct=EBI-1049371, EBI-1049638; P78386; O76011: KRT34; NbExp=6; IntAct=EBI-1049371, EBI-1047093; P78386; Q92764: KRT35; NbExp=3; IntAct=EBI-1049371, EBI-1058674; P78386; O76013-2: KRT36; NbExp=3; IntAct=EBI-1049371, EBI-11958506; P78386; O76014: KRT37; NbExp=5; IntAct=EBI-1049371, EBI-1045716; P78386; O76015: KRT38; NbExp=3; IntAct=EBI-1049371, EBI-1047263; P78386; Q6A163: KRT39; NbExp=3; IntAct=EBI-1049371, EBI-11958242; P78386; Q6A162: KRT40; NbExp=3; IntAct=EBI-1049371, EBI-10171697; P78386; Q68G74: LHX8; NbExp=3; IntAct=EBI-1049371, EBI-8474075; P78386; P32242: OTX1; NbExp=3; IntAct=EBI-1049371, EBI-740446; P78386; Q9NYJ8: TAB2; NbExp=3; IntAct=EBI-1049371, EBI-358708; P78386; Q8N720: ZNF655; NbExp=3; IntAct=EBI-1049371, EBI-625509;
TISSUE SPECIFICITY: Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft.
DISEASE: Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. Note=The disease is caused by variants affecting the gene represented in this entry.
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
 

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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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KRT85
CDC HuGE Published Literature: KRT85
Positive Disease Associations: Stroke
Related Studies:
  1. Stroke
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: KRT85
Diseases sorted by gene-association score: ectodermal dysplasia 4, hair/nail type* (1680), hair disease (1)
* = Manually curated disease association

-  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: 0.86 RPKM in Testis
Total median expression: 1.37 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 -12.3076-0.162 Picture PostScript Text
3' UTR -287.00847-0.339 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
IPR018039 - IF_conserved
IPR039008 - IF_rod_dom
IPR032444 - Keratin_2_head
IPR003054 - Keratin_II

Pfam Domains:
PF00038 - Intermediate filament protein
PF16208 - Keratin type II head

ModBase Predicted Comparative 3D Structure on P78386
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity

Biological Process:
GO:0008544 epidermis development
GO:0031424 keratinization
GO:0070268 cornification

Cellular Component:
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament


-  Descriptions from all associated GenBank mRNAs
  X99140 - H.sapiens mRNA for hair keratin, hHb5.
JD527060 - Sequence 508084 from Patent EP1572962.
JD422981 - Sequence 404005 from Patent EP1572962.
JD273545 - Sequence 254569 from Patent EP1572962.
JD091090 - Sequence 72114 from Patent EP1572962.
JD123610 - Sequence 104634 from Patent EP1572962.
JD171460 - Sequence 152484 from Patent EP1572962.
JD461410 - Sequence 442434 from Patent EP1572962.
JD492486 - Sequence 473510 from Patent EP1572962.
JD487122 - Sequence 468146 from Patent EP1572962.
JD387802 - Sequence 368826 from Patent EP1572962.
JD295612 - Sequence 276636 from Patent EP1572962.
AK302303 - Homo sapiens cDNA FLJ51392 complete cds, highly similar to Keratin, type II cuticular Hb5.
JD240193 - Sequence 221217 from Patent EP1572962.
JD399375 - Sequence 380399 from Patent EP1572962.
JD504881 - Sequence 485905 from Patent EP1572962.
JD283923 - Sequence 264947 from Patent EP1572962.
JD322631 - Sequence 303655 from Patent EP1572962.
JD309529 - Sequence 290553 from Patent EP1572962.
JD422802 - Sequence 403826 from Patent EP1572962.
JD134872 - Sequence 115896 from Patent EP1572962.
JD200960 - Sequence 181984 from Patent EP1572962.
JD384276 - Sequence 365300 from Patent EP1572962.
BC166627 - Synthetic construct Homo sapiens clone IMAGE:100066353, MGC:195490 keratin 85 (KRT85) mRNA, encodes complete protein.

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

Protein P78386 (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: ENST00000257901.1, ENST00000257901.2, ENST00000257901.3, ENST00000257901.4, ENST00000257901.5, ENST00000257901.6, KRT85_HUMAN, KRTHB5, NM_002283, P78386, Q9NSB1, uc317gad.1
UCSC ID: ENST00000257901.7_6
RefSeq Accession: NM_002283
Protein: P78386 (aka KRT85_HUMAN)

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