aspartate beta-hydroxylase

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Synonym

aspartate beta-hydroxylase, Peptide-aspartate beta-dioxygenase, BAH, Aspartate beta-hydroxylase, ASPH, junctin, CASQ2BP1, JCTN, Aspartyl/asparaginyl beta-hydroxylase, humbug, HAAH, junctate, ASP beta-hydroxylase

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:147 cerebellum:75.60 brain stem:- corpus callosum/glia:495.70 pineal gland:- peripheral nerve:122.70 spine:336.90 retina:355.90 eye:164.60 artery/aorta:149.90 vein:- lymphnode:40.40 peripheral blood:18.20 spleen:- thymus:38.70 bone marrow:59 adipose:322.70 bone:102.40 skin:240
GeneChip cerebrum:6.40 cerebellum:6.40 brain stem:6.53 corpus callosum/glia:6.15 pineal gland:- peripheral nerve:6.59 spine:6.51 retina:- eye:- artery/aorta:7.09 vein:6.77 lymphnode:6.18 peripheral blood:- spleen:5.46 thymus:5.21 bone marrow:4.39 adipose:8.84 bone:- skin:7.54
CAGE cerebrum:5.10 cerebellum:- brain stem:4.65 corpus callosum/glia:4.34 pineal gland:5.27 peripheral nerve:- spine:4.93 retina:- eye:- artery/aorta:5.06 vein:4.81 lymphnode:4.44 peripheral blood:- spleen:4.47 thymus:2.99 bone marrow:- adipose:6.26 bone:- skin:-
RNA-seq cerebrum:2.57 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:0 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:3.04 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:118.50 placenta:76.50 prostate:33.80 ovary:- testis:34.60 heart:114.90 muscle:200.90 esophagus:- stomach:169.90 intestine:64.80 colon:245.90     liver/hepato:200.60        lung:141.70    bladder:251.20 kidney:104 pituitary:116 thyroid/parathyroid:- adrenal gland:50.80 pancreas:106.70 breast:418.20 salivary:-
GeneChip uterus:6.55 placenta:5.71 prostate:6.72 ovary:6.26 testis:4.75 heart:6.47 muscle:5.04 esophagus:6.50 stomach:7.01 intestine:6.27 colon:5.74 liver/hepato:6.10 lung:6.10 bladder:- kidney:6.05 pituitary:6.69 thyroid/parathyroid:6.85 adrenal gland:7.84 pancreas:6.25 breast:7.55 salivary:7.51
CAGE uterus:4.71 placenta:4.17 prostate:4.83 ovary:4.75 testis:3.94 heart:5.28 muscle:6.29 esophagus:4.82 stomach:- intestine:4.22 colon:4.56     liver/hepato:4.84    lung:4.97 bladder:5.31 kidney:4.49 pituitary:4.67 thyroid/parathyroid:5.29 adrenal gland:- pancreas:4.11 breast:6.35 salivary:5.26
RNA-seq uterus:- placenta:- prostate:0.00 ovary:0.90 testis:1.91 heart:1.83 muscle:0.60 esophagus:- stomach:- intestine:- colon:0.17     liver/hepato:1.07        lung:0    bladder:- kidney:0.00 pituitary:- thyroid/parathyroid:2.96 adrenal gland:1.89 pancreas:- breast:5.00 salivary:-

Gene Information

IDs

Refseq ID NM_001164751
Gene ID 444
Unigene ID Hs.332422
Probe set ID 209135_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000198363
GTEx ID ENSG00000198363

Orthologous Gene

Mouse[8]  NM_001177849, NM_001177850, NM_001177851, NM_001177852, NM_001177853, NM_001177854, NM_001177855, NM_001177856, NM_023066, NM_133723
Rat[8]  NM_001177849, NM_001177850, NM_001177851, NM_001177852, NM_001177853, NM_001177854, NM_001177855, NM_001177856, NM_023066, NM_133723

Chromosomal Region

8q12.3  [62,413,115  -  62,627,199]

Gene Family (Interpro ID)

IPR019734  Tetratricopeptide repeat

Link to Pubmed  (Pubmed ID)

7821814
8823296
8889548
9287354
10767180
10956665
10974562
11007777
11069905
11991713
12118090
12130746
12477932
12713872
14702039
15041652
15302852
15302935
16154531
16341145
16341674
16344560
16564107
16673309
16712791
16949909
17020779
17156427
17207965
17400717
17500595
17569730
18288418
18387192
18781797
19087304
19197126
19200576
19403607
19567751
19663697
20020773
20562859
21139048
21145461
21565611
21832049
21862239
21890473
21906983
21963094
22123818
22586105
23438482
24768550

Gene Ontology  (GO ID)

Biological Process

GO:0032237  activation of store-operated calcium channel activity
GO:0008150  biological_process
GO:0070588  calcium ion transmembrane transport
GO:0071277  cellular response to calcium ion
GO:0005513  detection of calcium ion
GO:0060325  face morphogenesis
GO:0035108  limb morphogenesis
GO:0006936  muscle contraction
GO:0008285  negative regulation of cell proliferation
GO:0060021  palate development
GO:0007389  pattern specification process
GO:0042264  peptidyl-aspartic acid hydroxylation
GO:0010524  positive regulation of calcium ion transport into cytosol
GO:0045862  positive regulation of proteolysis
GO:0060316  positive regulation of ryanodine-sensitive calcium-release channel activity
GO:0045893  positive regulation of transcription, DNA-dependent
GO:0010881  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0010649  regulation of cell communication by electrical coupling
GO:0031585  regulation of inositol-1,4,5-triphosphate receptor activity
GO:0031647  regulation of protein stability
GO:0010880  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0060314  regulation of ryanodine-sensitive calcium-release channel activity
GO:0033198  response to ATP

Cellular Component

GO:0034704  calcium channel complex
GO:0032541  cortical endoplasmic reticulum
GO:0005783  endoplasmic reticulum
GO:0005789  endoplasmic reticulum membrane
GO:0030176  integral to endoplasmic reticulum membrane
GO:0016021  integral to membrane
GO:0014701  junctional sarcoplasmic reticulum membrane
GO:0005886  plasma membrane
GO:0033018  sarcoplasmic reticulum lumen
GO:0033017  sarcoplasmic reticulum membrane

Molecular Function

GO:0005509  calcium ion binding
GO:0009055  electron carrier activity
GO:0016702  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0004597  peptide-aspartate beta-dioxygenase activity
GO:0005515  protein binding
GO:0008307  structural constituent of muscle
GO:0005198  structural molecule activity