The protein contains 467 amino acids for an estimated molecular weight of 52247 Da.
No function (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
---|---|---|---|---|---|
Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Variant | Description |
---|---|
dbSNP:rs8082683 | |
dbSNP:rs8069943 | |
dbSNP:rs9675246 | |
dbSNP:rs9904102 | |
dbSNP:rs2301354 | |
dbSNP:rs11657323 |
The reference OMIM entry for this protein is 604540
See KRTHA1 (601077) for general information on hair keratins. Rogers et al. (1998) and Langbein et al. (1999) reported the identification of the KRTHA6 gene, which they called HA6. Rogers et al. (1998) found that the deduced KRTHA6 protein has 468 amino acids. They stated that KRTHA6 is probably identical to the minor type I hair keratin HAX (Heid et al., 1988). The KRTHA6 gene contains 7 exons. By RT-PCR, Rogers et al. (1998) showed that KRTHA6 is expressed in the human hair follicle. See Langbein et al. (1999) for further details on the expression pattern of the KRTHA6 gene in the hair follicle. Rogers et al. (1998) isolated and characterized 2 overlapping human PAC clones that cover 190 kb on 17q12-q21 and contain 9 type I hair keratin genes, 1 transcribed hair keratin pseudogene, and 1 orphan exon. The order of the genes is 5-prime--KRTHA6--KRTHA5 (602764)--KRTHA2 (602760)--orphan exon--KRTHA8 (604542)--KRTHA7 (604541)--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. The third subcluster, group C, consists of the structurally less related hair keratins KRTHA2, KRTHA5, and KRTHA6, which share about 70% amino acid identity. ... More on the omim web site
Dec. 10, 2018: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 604540 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).