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
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.
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.
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