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KERATIN 38, TYPE I; KRT38

KERATIN 38, TYPE I; KRT38

Alternative titles; symbolsK38KA33KERATIN, HAIR, ACIDIC, 8; KRTHA8KERATIN, HARD, TYPE I, 8; HA8HGNC Approved Gene Symbol: KRT38Cytogenetic location: 17q21.2 ...

Alternative titles; symbols

  • K38
  • KA33
  • KERATIN, HAIR, ACIDIC, 8; KRTHA8
  • KERATIN, HARD, TYPE I, 8; HA8

HGNC Approved Gene Symbol: KRT38

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,436,153-41,440,982 (from NCBI)

▼ Description
See KRTHA1 (601077) for general information on hair keratins.

▼ Cloning and Expression
Rogers et al. (1998) found that the deduced KRTHA8 protein, which they called HA8, has 415 amino acids. By RT-PCR, Rogers et al. (1998) showed that KRTHA8 is expressed in the human hair follicle. See Langbein et al. (1999) for further details on the expression pattern of the KRTHA8 gene in the hair follicle.

▼ Gene Structure
The KRTHA8 gene contains 7 exons (Rogers et al., 1998).

▼ Mapping
Rogers et al. (1998) isolated and characterized 2 overlapping human PAC clones that cover 190 kb on 17q12-q21. These clones contain 9 type I hair keratin genes, including the novel genes KRTHA7 (604541) and KRTHA8; 1 transcribed hair keratin pseudogene; and 1 orphan exon. The order of the genes is 5-prime--KRTHA6 (604540)--KRTHA5 (602764)--KRTHA2 (602760)--orphan exon--KRTHA8--KRTHA7--pseudogene--KRTHA1--KRTHA4 (602763)--KRTHA3B (602762)--KRTHA3A (602761)--3-prime. The hair keratin genes range in size from 4.2 to 7.5 kb, and the genes are separated from each other by 5.5 to 18.4 kb; all are located within about 140 kb. Each gene is transcribed from the 5-prime to 3-prime direction. Based on sequence homologies, the genes can be grouped into 3 subclusters of tandemly arranged genes. One subcluster, group A, consists of KRTHA1, KRTHA3A, KRTHA3B, and KRTHA4, which share 89% overall amino acid identity. A second subcluster, group B, contains KRTHA7 and KRTHA8, as well as the hair keratin pseudogene, which the authors called HAA. The functional hair keratins and hypothetical HAA hair keratin share approximately 81% overall amino acid identity. Due to an almost completely identical head domain, KRTHA7 and KRTHA8 are 92.6% identical. The third subcluster, group C, consists of the structurally less related hair keratins KRTHA2, KRTHA5, and KRTHA6, which share about 70% amino acid identity.

Tags: 17q21.2