Details for: ASPH

Gene ID: 444

Symbol: ASPH

Ensembl ID: ENSG00000198363

Description: aspartate beta-hydroxylase

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.68
    Marker Score: 65,256
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 3.39
    Marker Score: 4,562
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 3.18
    Marker Score: 3,961
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.13
    Marker Score: 13,106
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.13
    Marker Score: 66,818
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 3.1
    Marker Score: 3,265
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.06
    Marker Score: 2,012
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.99
    Marker Score: 3,620
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.83
    Marker Score: 1,035
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.8
    Marker Score: 808
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.77
    Marker Score: 810
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.69
    Marker Score: 1,502
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.67
    Marker Score: 1,553
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 2.6
    Marker Score: 1,359
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.55
    Marker Score: 56,874
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 2.54
    Marker Score: 3,516
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.49
    Marker Score: 16,223
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.49
    Marker Score: 5,052
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.47
    Marker Score: 2,987
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.42
    Marker Score: 38,815
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.35
    Marker Score: 2,082
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.31
    Marker Score: 2,177
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.3
    Marker Score: 5,747
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.27
    Marker Score: 2,512
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.25
    Marker Score: 710
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.24
    Marker Score: 1,767
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.24
    Marker Score: 1,937
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.23
    Marker Score: 3,284
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.22
    Marker Score: 1,301
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.19
    Marker Score: 83,327
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.19
    Marker Score: 32,732
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.17
    Marker Score: 1,505
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.11
    Marker Score: 73,231
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.11
    Marker Score: 2,256
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.06
    Marker Score: 2,656
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.02
    Marker Score: 1,352
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.01
    Marker Score: 991
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.01
    Marker Score: 4,402
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2
    Marker Score: 7,735
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.98
    Marker Score: 2,242
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.96
    Marker Score: 3,155
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.96
    Marker Score: 14,991
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.93
    Marker Score: 445
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.93
    Marker Score: 118,655
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.92
    Marker Score: 573
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.89
    Marker Score: 5,383
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.87
    Marker Score: 7,817
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.87
    Marker Score: 1,793
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.85
    Marker Score: 3,385
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.84
    Marker Score: 13,712
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.84
    Marker Score: 7,617
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.83
    Marker Score: 856
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.83
    Marker Score: 2,511
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.82
    Marker Score: 4,122
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.81
    Marker Score: 9,491
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.8
    Marker Score: 7,066
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.79
    Marker Score: 506
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.78
    Marker Score: 35,446
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.78
    Marker Score: 991
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.78
    Marker Score: 16,730
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.77
    Marker Score: 858
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.75
    Marker Score: 7,117
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.75
    Marker Score: 2,040
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.74
    Marker Score: 3,958
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.74
    Marker Score: 6,691
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.73
    Marker Score: 4,236
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.72
    Marker Score: 1,855
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.72
    Marker Score: 16,344
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.72
    Marker Score: 17,733
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.72
    Marker Score: 2,123
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.7
    Marker Score: 3,275
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.7
    Marker Score: 490
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.69
    Marker Score: 14,507
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.69
    Marker Score: 1,712
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.68
    Marker Score: 705
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.68
    Marker Score: 62,107
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.63
    Marker Score: 5,793
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.63
    Marker Score: 633
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.61
    Marker Score: 1,440
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.6
    Marker Score: 2,831
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.59
    Marker Score: 666
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.56
    Marker Score: 4,076
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.55
    Marker Score: 978
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.54
    Marker Score: 7,147
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.54
    Marker Score: 9,851
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.52
    Marker Score: 1,037
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.52
    Marker Score: 4,062
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.51
    Marker Score: 2,333
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.5
    Marker Score: 302
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.49
    Marker Score: 477
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.48
    Marker Score: 2,351
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.48
    Marker Score: 1,276
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.47
    Marker Score: 386
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.45
    Marker Score: 460
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.44
    Marker Score: 1,184
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.44
    Marker Score: 581
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.44
    Marker Score: 355
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.4
    Marker Score: 4,595
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.4
    Marker Score: 1,686
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.4
    Marker Score: 3,216

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Protein modification**: ASPH is involved in the hydroxylation of aspartic acid residues in proteins, which is a critical post-translational modification that can alter protein function and stability. 2. **Cell proliferation**: ASPH is involved in the regulation of cell population proliferation, suggesting its role in cell growth and division. 3. **Muscle contraction**: ASPH is expressed in cardiac neurons and is involved in the regulation of muscle contraction, highlighting its importance in muscle function. 4. **Multiple cellular expressions**: ASPH is expressed in various cell types, including cortical cells of the adrenal gland, cardiac neurons, and astrocytes of the cerebral cortex, indicating its diverse roles in different tissues. **Pathways and Functions** 1. **Activation of cysteine-type endopeptidase activity**: ASPH is involved in the activation of cysteine-type endopeptidases, which are enzymes that cleave peptide bonds in proteins. 2. **Calcium ion binding**: ASPH is involved in calcium ion binding, which is essential for various cellular processes, including muscle contraction and cell signaling. 3. **Cardiac conduction**: ASPH is expressed in cardiac neurons and is involved in the regulation of cardiac conduction, highlighting its importance in heart function. 4. **Electron transfer activity**: ASPH is involved in electron transfer activity, which is essential for energy production in cells. 5. **Electron transport chain**: ASPH is involved in the electron transport chain, which is a critical process in energy production in cells. **Clinical Significance** 1. **Muscle disorders**: Mutations in the ASPH gene have been associated with muscle disorders, such as hypertrophic cardiomyopathy and limb-girdle muscular dystrophy. 2. **Cancer**: ASPH has been implicated in cancer, particularly in the regulation of cell proliferation and survival. 3. **Neurological disorders**: ASPH has been associated with neurological disorders, including Alzheimer's disease and Parkinson's disease. 4. **Cardiovascular disease**: ASPH has been implicated in cardiovascular disease, particularly in the regulation of cardiac conduction and muscle contraction. In conclusion, ASPH is a gene that plays a crucial role in various cellular processes, including protein modification, cell proliferation, and muscle contraction. Its dysregulation has been associated with various diseases, including muscle disorders, cancer, neurological disorders, and cardiovascular disease. Further research is needed to fully understand the functions of ASPH and its clinical significance.

Genular Protein ID: 391388776

Symbol: ASPH_HUMAN

Name: Aspartyl/asparaginyl beta-hydroxylase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7821814

Title: Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase.

PubMed ID: 7821814

DOI: 10.1016/0378-1119(94)90460-x

PubMed ID: 8823296

Title: Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma.

PubMed ID: 8823296

DOI: 10.1172/jci118918

PubMed ID: 10974562

Title: cDNA cloning and characterization of human cardiac junctin.

PubMed ID: 10974562

DOI: 10.1016/s0378-1119(00)00299-7

PubMed ID: 10956665

Title: Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin.

PubMed ID: 10956665

DOI: 10.1074/jbc.m006753200

PubMed ID: 11007777

Title: Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane.

PubMed ID: 11007777

DOI: 10.1074/jbc.m005473200

PubMed ID: 10767180

Title: Molecular cloning of junctin from human and developing rabbit heart.

PubMed ID: 10767180

DOI: 10.1006/mgme.2000.2966

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22586105

Title: Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1).

PubMed ID: 22586105

DOI: 10.1073/pnas.1200667109

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 15485681

Title: Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium.

PubMed ID: 15485681

DOI: 10.1016/j.cardiores.2004.09.009

PubMed ID: 11773073

Title: Absence of post-translational aspartyl beta-hydroxylation of epidermal growth factor domains in mice leads to developmental defects and an increased incidence of intestinal neoplasia.

PubMed ID: 11773073

DOI: 10.1074/jbc.m110389200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24768550

Title: Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

PubMed ID: 24768550

DOI: 10.1016/j.ajhg.2014.04.002

Sequence Information:

  • Length: 758
  • Mass: 85863
  • Checksum: 4AE56D1D8DF0AF0C
  • Sequence:
  • MAQRKNAKSS GNSSSSGSGS GSTSAGSSSP GARRETKHGG HKNGRKGGLS GTSFFTWFMV 
    IALLGVWTSV AVVWFDLVDY EEVLGKLGIY DADGDGDFDV DDAKVLLGLK ERSTSEPAVP 
    PEEAEPHTEP EEQVPVEAEP QNIEDEAKEQ IQSLLHEMVH AEHVEGEDLQ QEDGPTGEPQ 
    QEDDEFLMAT DVDDRFETLE PEVSHEETEH SYHVEETVSQ DCNQDMEEMM SEQENPDSSE 
    PVVEDERLHH DTDDVTYQVY EEQAVYEPLE NEGIEITEVT APPEDNPVED SQVIVEEVSI 
    FPVEEQQEVP PETNRKTDDP EQKAKVKKKK PKLLNKFDKT IKAELDAAEK LRKRGKIEEA 
    VNAFKELVRK YPQSPRARYG KAQCEDDLAE KRRSNEVLRG AIETYQEVAS LPDVPADLLK 
    LSLKRRSDRQ QFLGHMRGSL LTLQRLVQLF PNDTSLKNDL GVGYLLIGDN DNAKKVYEEV 
    LSVTPNDGFA KVHYGFILKA QNKIAESIPY LKEGIESGDP GTDDGRFYFH LGDAMQRVGN 
    KEAYKWYELG HKRGHFASVW QRSLYNVNGL KAQPWWTPKE TGYTELVKSL ERNWKLIRDE 
    GLAVMDKAKG LFLPEDENLR EKGDWSQFTL WQQGRRNENA CKGAPKTCTL LEKFPETTGC 
    RRGQIKYSIM HPGTHVWPHT GPTNCRLRMH LGLVIPKEGC KIRCANETKT WEEGKVLIFD 
    DSFEHEVWQD ASSFRLIFIV DVWHPELTPQ QRRSLPAI

Genular Protein ID: 3380169666

Symbol: B4DQ07_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 285
  • Mass: 31759
  • Checksum: 740E04134899A7B2
  • Sequence:
  • MAQRKNAKSS GNSSSSSSSS PGARRETKHG GHENGRKGGL SGTSFFTWFM VIALLGVWTS 
    VAVVWFDLVD YEEVLGKLGI YDADGDGDFD VDDAKVLLGL KERSTSEPAV PPEEAEPHTE 
    PEEQVPVEAE PQNIEDEAKE QIQSLLHEMV HAEHVEGEDL QQEDGPTGEP QQEDDEFLMA 
    TDVDDRFETL EPEVSHEETE HSYHVEETDS SEPVVEDERL HHDTDDVTYQ VYEEQAVYEP 
    LENEGIEITE VTAPPEDNPV EDSQVIVEEV SIFPVEEQQE VPPDT

Genular Protein ID: 3000180067

Symbol: B7ZM96_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 279
  • Mass: 31518
  • Checksum: 966814F02AAE2186
  • Sequence:
  • MAEDKETKHG GHKNGRKGGL SGTSFFTWFM VIALLGVWTS VAVVWFDLVD YEEVLAKAKD 
    FRYNLSEVLQ GKLGIYDADG DGDFDVDDAK VLLGLKERST SEPAVPPEEA EPHTEPEEQV 
    PVEAEPQNIE DEAKEQIQSL LHEMVHAEHV EGEDLQQEDG PTGEPQQEDD EFLMATDVDD 
    RFETLEPEVS HEETEHSYHV EETDSSEPVV EDERLHHDTD DVTYQVYEEQ VYEPLENEGI 
    EITEVTAPPE DNPVEDSQVI VEEVSIFPVE EQQEVPPDT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.