Keratin, type II cytoskeletal 72 (KRT72)

The protein contains 511 amino acids for an estimated molecular weight of 55877 Da.

 

Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). (updated: Oct. 10, 2018)

Protein identification was indicated in the following studies:

  1. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.

Methods

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.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

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.

No sequence conservation computed yet.

Interpro domains
Total structural coverage: 28%
Model score: 0
No model available.

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VariantDescription
dbSNP:rs11170187
dbSNP:rs12833456
dbSNP:rs34769047
dbSNP:rs7310138
dbSNP:rs11170183

No binding partner found

The reference OMIM entry for this protein is 608246

Keratin 72, type ii; krt72
K72
Kb35
Keratin 6, inner root sheath, 2; krt6irs2
K6irs2

DESCRIPTION

K6IRS2 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair follicles.

CLONING

By searching an EST database for sequences similar to KRT7 (148509), Porter et al. (2001) identified K6IRS2, which they designated K6IRS. They confirmed the mRNA sequence by RT-PCR of human hair mRNA. The deduced 510-amino acid protein has a calculated molecular mass of about 55.7 kD. The rod domain of K6IRS2 is more closely related to KRT6 keratins (see KRT6A; 148041) than to other type II keratins. The variable domains V1 and V2, which flank the rod domain, are novel. RT-PCR of mRNA derived from skin biopsies and from plucked hairs revealed K6IRS2 expression in both scalp and eyebrow hair follicles and in palmoplantar epidermis. Porter et al. (2001) cloned mouse K6irs2. The 524-amino acid mouse protein has a calculated molecular mass of about 57.3 kD. Mouse and human K6IRS2 share 70% amino acid identity, including 84% identity in the rod domain. Most of the interspecies differences are in the V1 and V2 domains. Immunohistochemical analysis of mouse tissues showed that K6irs2 is completely specific for the epithelial cells of the inner root sheath of anagen hair follicles. There appeared to be a sharp demarcation where expression ended, which was below the region where the sebaceous gland joins the follicle. The inner root sheath of vibrissae was also positive for mouse K6irs2. Expression was not detected in the footpad, in interfollicular epidermis, in any epithelia of internal organs, mucosal tissues, sebaceous glands, or eccrine sweat glands, or in epithelial structures of the tongue. Expression was also completely absent from telogen samples, consistent with the loss of the inner root sheath during telogen. Langbein et al. (2003) reported that human K6IRS2 contains 511 amino acids and has a calculated molecular mass of 55.9 kD. Western blot analysis detected a single K6IRS2 band in root sheath extracts, but not in foot sole extracts. Indirect immunofluorescence of human hair follicles revealed that both K6IRS2 and K6IRS3 (608247) were expressed in the cuticle of the inner root sheath, but they showed different onsets of expression. K6IRS3 expression began in the lowermost bulb region, while K6IRS2 expression began in the apex of the dermal papilla.

GENE STRUCTURE

Porter et al. (2001) determined that the K6IRS2 gene contains 9 exons and spans almost 16 kb. The promoter region contains a TATA element and a T-antigen site.

MAPPING

By genomic sequence analysis, Porter et al. (2001) mapped the K6IRS2 gene to chromosome 12q, within a type II keratin gene cluster. Langbein et al. (2003) localized the cluster to chromosome 12q13. ... More on the omim web site

Subscribe to this protein entry history

Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 608246 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).