🧬 基因注释：ASPH

官方名称：aspartate beta-hydroxylase

功能摘要：This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009].

• HNRNPA1 综合评分: 0.448 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPM 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.362 · 证据 1 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• fus 综合评分: 0.362 · 证据 1 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• TIA1 综合评分: 0.312 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条

该基因暂无关联疾病记录