QuickView for ASPH (gene)

Gene Symbol:

ASPH Homo sapiens

Full name:

aspartate beta-hydroxylase

Synonyms:

AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin, aspartyl/asparaginyl beta-hydroxylase, A beta H-J-J, ASP beta-hydroxylase, cardiac junctin, humbug, junctate, peptide-aspartate beta-dioxygenase

Genomic Location:

Chr 8: 62578374-62789560

Description:

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 l...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  TGANTCA_AP1_C ,  YTATTTTNR_MEF2_02 ,  SRF_Q6 ,  RSRFC4_Q2 ,  CTTTGA_LEF1_Q2 ,  AAGCAAT_MIR137 ,  CTAWWWATA_RSRFC4_Q2 ,  STAT_Q6 ,  MEF2_01 ,  SRF_Q4 ,  AHR_Q5 ,  RORA1_01 ,  STAT_01 ,  AAAYRNCTG_UNKNOWN ,  TTCYNRGAA_STAT5B_01 ,  RORA2_01 ,  MMEF2_Q6 ,  TGGTGCT_MIR29A_MIR29B_MIR29C ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  MEF2_Q6_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-15 ,  Predicted Gene Targets for miR-137

Cytogenetic Map:

8q12.3

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