HHIPL1

Description

The HHIPL1 (HHIP like 1) is a protein-coding gene located on chromosome 14.

HHIP-like protein 1 (HHIPL1), also known as HHIP2, is a protein that in humans is encoded by the HHIPL1 gene on chromosome 14. It is not significantly expressed in many tissues and cell types, though HHIPL1 mRNA has been detected in trabecular bone cells. Little is known about the precise biological function of HHIPL1, but the protein has been linked to adenomas. The HHIPL1 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

== Structure ==

=== Gene === The HHIPL1 gene resides on chromosome 14 at the band 14q32 and contains 13 exons. This gene produces 2 isoforms through alternative splicing.

=== Protein === This protein belongs to the HHIP family and is one of three members found in humans. HHIPL1 contains a SRCR domain and an N-terminal signal peptide. Processing of the signal peptide leads to this protein's secretion. As an HHIP member, it also contains a conserved HHIP-homologous (HIPH) domain composed of 18 cysteine residues.

HHIP-like protein 1 (HHIPL1), also known as HHIP2, is a protein that is encoded by the HHIPL1 gene located on chromosome 14. Although its expression is low in many tissues and cell types, HHIPL1 mRNA has been detected in trabecular bone cells. While the specific function of HHIPL1 remains unclear, it has been associated with adenomas. Additionally, the HHIPL1 gene contains one of 27 SNPs linked to an elevated risk of coronary artery disease.

HHIPL1 is also known as KIAA1822, UNQ9245.

Associated Diseases

WES Whole Exome Sequencing