UniProtKB - Q12797 (ASPH_HUMAN)
Aspartyl/asparaginyl beta-hydroxylase
ASPH
Functioni
Specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
1 PublicationMembrane-bound Ca2+-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.
1 PublicationCatalytic activityi
- 2-oxoglutarate + L-aspartyl-[protein] + O2 = 3-hydroxy-L-aspartyl-[protein] + CO2 + succinate1 PublicationEC:1.14.11.161 Publication
Cofactori
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 625 | 2-oxoglutarate1 Publication | 1 | |
Binding sitei | 668 | 2-oxoglutarate1 Publication | 1 | |
Metal bindingi | 679 | IronCurated | 1 | |
Metal bindingi | 725 | IronCurated | 1 | |
Binding sitei | 735 | 2-oxoglutarate1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 90 – 102 | 1 PublicationAdd BLAST | 13 |
GO - Molecular functioni
- calcium ion binding Source: UniProtKB
- electron transfer activity Source: UniProtKB
- peptidyl-aspartic acid 3-dioxygenase activity Source: ProtInc
- structural constituent of muscle Source: ProtInc
- structural molecule activity Source: ProtInc
- transmembrane transporter binding Source: BHF-UCL
GO - Biological processi
- activation of cysteine-type endopeptidase activity Source: BHF-UCL
- activation of store-operated calcium channel activity Source: UniProtKB
- calcium ion homeostasis Source: UniProtKB
- calcium ion transmembrane transport Source: UniProtKB
- cellular response to calcium ion Source: UniProtKB
- detection of calcium ion Source: BHF-UCL
- face morphogenesis Source: Ensembl
- limb morphogenesis Source: Ensembl
- muscle contraction Source: ProtInc
- negative regulation of cell population proliferation Source: Ensembl
- pattern specification process Source: Ensembl
- peptidyl-aspartic acid hydroxylation Source: GO_Central
- positive regulation of calcium ion transport into cytosol Source: UniProtKB
- positive regulation of intracellular protein transport Source: UniProtKB
- positive regulation of proteolysis Source: BHF-UCL
- positive regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: BHF-UCL
- regulation of cell communication by electrical coupling Source: BHF-UCL
- regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: UniProtKB
- regulation of protein depolymerization Source: Ensembl
- regulation of protein stability Source: Ensembl
- regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
- regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
- response to ATP Source: UniProtKB
- roof of mouth development Source: Ensembl
Keywordsi
Molecular function | Dioxygenase, Oxidoreductase |
Ligand | Calcium, Iron, Metal-binding |
Enzyme and pathway databases
BRENDAi | 1.14.11.16, 2681 |
PathwayCommonsi | Q12797 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels R-HSA-5578775, Ion homeostasis |
SignaLinki | Q12797 |
Protein family/group databases
TCDBi | 8.A.28.1.5, the ankyrin (ankyrin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Aspartyl/asparaginyl beta-hydroxylase (EC:1.14.11.161 Publication)Alternative name(s): Aspartate beta-hydroxylase Short name: ASP beta-hydroxylase Peptide-aspartate beta-dioxygenase |
Gene namesi | Name:ASPH Synonyms:BAH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:757, ASPH |
MIMi | 600582, gene |
neXtProti | NX_Q12797 |
VEuPathDBi | HostDB:ENSG00000198363 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane ; Single-pass type II membrane protein By similarity
Other locations
- Sarcoplasmic reticulum membrane ; Single-pass type II membrane protein 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum membrane ; Single-pass type II membrane protein 1 Publication
Endoplasmic reticulum
- cortical endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: Reactome
- integral component of endoplasmic reticulum membrane Source: UniProtKB
- junctional sarcoplasmic reticulum membrane Source: BHF-UCL
- sarcoplasmic reticulum lumen Source: BHF-UCL
- sarcoplasmic reticulum membrane Source: BHF-UCL
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- calcium channel complex Source: BHF-UCL
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 53 | CytoplasmicSequence analysisAdd BLAST | 53 | |
Transmembranei | 54 – 74 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 75 – 758 | LumenalSequence analysisAdd BLAST | 684 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, Sarcoplasmic reticulumPathology & Biotechi
Involvement in diseasei
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071821 | 735 | R → W in FDLAB. 1 PublicationCorresponds to variant dbSNP:rs374385878EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 91 – 93 | DAD → AAA: Increase in cytoplasmic Ca(2+) via activation of endogenous CRAC channels. 1 Publication | 3 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 444 |
MalaCardsi | ASPH |
MIMi | 601552, phenotype |
OpenTargetsi | ENSG00000198363 |
Orphaneti | 412022, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
PharmGKBi | PA25056 |
Miscellaneous databases
Pharosi | Q12797, Tbio |
Chemistry databases
DrugBanki | DB00128, Aspartic acid DB00139, Succinic acid |
DrugCentrali | Q12797 |
Genetic variation databases
BioMutai | ASPH |
DMDMi | 145559444 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064706 | 1 – 758 | Aspartyl/asparaginyl beta-hydroxylaseAdd BLAST | 758 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 14 | PhosphoserineCombined sources | 1 | ||
Glycosylationi | 452 | N-linked (GlcNAc...) asparagine | 1 | ||
Disulfide bondi | 641 ↔ 648 | 1 Publication | |||
Glycosylationi | 706 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Isoform 3 (identifier: Q12797-3) | |||||
Glycosylationi | 64 | N-linked (GlcNAc...) asparagineCurated | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q12797 |
jPOSTi | Q12797 |
MassIVEi | Q12797 |
MaxQBi | Q12797 |
PaxDbi | Q12797 |
PeptideAtlasi | Q12797 |
PRIDEi | Q12797 |
ProteomicsDBi | 27096 4295 58944 [Q12797-1] 58945 [Q12797-2] 58946 [Q12797-3] 58947 [Q12797-4] 66767 7252 73953 80510 |
TopDownProteomicsi | Q12797-1 [Q12797-1] Q12797-2 [Q12797-2] |
PTM databases
GlyConnecti | 1018, 13 N-Linked glycans (1 site) |
GlyGeni | Q12797, 7 sites, 13 N-linked glycans (1 site), 4 O-linked glycans (4 sites) |
iPTMneti | Q12797 |
PhosphoSitePlusi | Q12797 |
SwissPalmi | Q12797 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000198363, Expressed in palpebral conjunctiva and 239 other tissues |
ExpressionAtlasi | Q12797, baseline and differential |
Genevisiblei | Q12797, HS |
Organism-specific databases
HPAi | ENSG00000198363, Tissue enhanced (adipose) |
Interactioni
Subunit structurei
Monomer (By similarity).
Isoform 8 interacts with ORAI1 and STIM1.
Isoform 4 interacts with CASQ2.
By similarity2 PublicationsBinary interactionsi
Q12797
With | #Exp. | IntAct |
---|---|---|
GET3 [O43681] | 3 | EBI-2967294,EBI-2515857 |
Isoform 6 [Q12797-6]
Isoform 7 [Q12797-7]
With | #Exp. | IntAct |
---|---|---|
HTT [P42858] | 3 | EBI-25953099,EBI-466029 |
GO - Molecular functioni
- transmembrane transporter binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 106936, 295 interactors |
IntActi | Q12797, 143 interactors |
MINTi | Q12797 |
STRINGi | 9606.ENSP00000368767 |
Miscellaneous databases
RNActi | Q12797, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q12797 |
SMRi | Q12797 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q12797 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 341 – 374 | TPR 1Add BLAST | 34 | |
Repeati | 454 – 487 | TPR 2Add BLAST | 34 | |
Repeati | 489 – 521 | TPR 3Add BLAST | 33 | |
Repeati | 525 – 557 | TPR 4Add BLAST | 33 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 46 | DisorderedSequence analysisAdd BLAST | 46 | |
Regioni | 111 – 140 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 304 – 324 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 688 – 690 | 2-oxoglutarate binding1 Publication | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 31 | Polar residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 116 – 134 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 309 – 324 | Basic and acidic residuesSequence analysisAdd BLAST | 16 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Signal-anchor, TPR repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3696, Eukaryota |
GeneTreei | ENSGT00940000156304 |
HOGENOMi | CLU_106984_0_0_1 |
InParanoidi | Q12797 |
OMAi | YTELVKX |
OrthoDBi | 1511606at2759 |
PhylomeDBi | Q12797 |
TreeFami | TF312799 |
Family and domain databases
Gene3Di | 1.25.40.10, 2 hits 2.60.120.330, 1 hit |
InterProi | View protein in InterPro IPR007943, Asp-B-hydro/Triadin_dom IPR007803, Asp/Arg/Pro-Hydrxlase IPR039038, ASPH IPR027443, IPNS-like_sf IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat |
PANTHERi | PTHR12366, PTHR12366, 1 hit |
Pfami | View protein in Pfam PF05279, Asp-B-Hydro_N, 1 hit PF05118, Asp_Arg_Hydrox, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 2 hits |
SUPFAMi | SSF48452, SSF48452, 1 hit |
PROSITEi | View protein in PROSITE PS50005, TPR, 2 hits PS50293, TPR_REGION, 1 hit |
s (11+)i Sequence
Sequence statusi: Complete.
This entry describes 11 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 11 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAQRKNAKSS GNSSSSGSGS GSTSAGSSSP GARRETKHGG HKNGRKGGLS
60 70 80 90 100
GTSFFTWFMV IALLGVWTSV AVVWFDLVDY EEVLGKLGIY DADGDGDFDV
110 120 130 140 150
DDAKVLLGLK ERSTSEPAVP PEEAEPHTEP EEQVPVEAEP QNIEDEAKEQ
160 170 180 190 200
IQSLLHEMVH AEHVEGEDLQ QEDGPTGEPQ QEDDEFLMAT DVDDRFETLE
210 220 230 240 250
PEVSHEETEH SYHVEETVSQ DCNQDMEEMM SEQENPDSSE PVVEDERLHH
260 270 280 290 300
DTDDVTYQVY EEQAVYEPLE NEGIEITEVT APPEDNPVED SQVIVEEVSI
310 320 330 340 350
FPVEEQQEVP PETNRKTDDP EQKAKVKKKK PKLLNKFDKT IKAELDAAEK
360 370 380 390 400
LRKRGKIEEA VNAFKELVRK YPQSPRARYG KAQCEDDLAE KRRSNEVLRG
410 420 430 440 450
AIETYQEVAS LPDVPADLLK LSLKRRSDRQ QFLGHMRGSL LTLQRLVQLF
460 470 480 490 500
PNDTSLKNDL GVGYLLIGDN DNAKKVYEEV LSVTPNDGFA KVHYGFILKA
510 520 530 540 550
QNKIAESIPY LKEGIESGDP GTDDGRFYFH LGDAMQRVGN KEAYKWYELG
560 570 580 590 600
HKRGHFASVW QRSLYNVNGL KAQPWWTPKE TGYTELVKSL ERNWKLIRDE
610 620 630 640 650
GLAVMDKAKG LFLPEDENLR EKGDWSQFTL WQQGRRNENA CKGAPKTCTL
660 670 680 690 700
LEKFPETTGC RRGQIKYSIM HPGTHVWPHT GPTNCRLRMH LGLVIPKEGC
710 720 730 740 750
KIRCANETKT WEEGKVLIFD DSFEHEVWQD ASSFRLIFIV DVWHPELTPQ
QRRSLPAI
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK
84-84: L → LAKAKDFRYNLSEVLQ
108-239: GLKERSTSEP...MSEQENPDSS → EGPSGVAKRK...TKGNTQKRNG
240-758: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK
108-239: GLKERSTSEP...MSEQENPDSS → EGPSGVAKRK...TKGNTQKRNG
240-758: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK
The sequence of this isoform differs from the canonical sequence as follows:
218-236: Missing.
312-313: ET → DT
314-758: Missing.
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RG29 | E5RG29_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 198 | Annotation score: | ||
E5RG56 | E5RG56_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 327 | Annotation score: | ||
E5RHJ2 | E5RHJ2_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 113 | Annotation score: | ||
G3XAN5 | G3XAN5_HUMAN | Aspartate beta-hydroxylase, isoform... | ASPH hCG_1787219 | 174 | Annotation score: | ||
E5RHK2 | E5RHK2_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 136 | Annotation score: | ||
A0A087WW51 | A0A087WW51_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 195 | Annotation score: | ||
E5RJL3 | E5RJL3_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 163 | Annotation score: | ||
A0A087WUJ2 | A0A087WUJ2_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 186 | Annotation score: | ||
A0A087X0J4 | A0A087X0J4_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 134 | Annotation score: | ||
A0A087WW05 | A0A087WW05_HUMAN | Aspartyl/asparaginyl beta-hydroxyla... | ASPH | 44 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 519 | D → N in BAG65166 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 565 | Y → I in AAA82108 (PubMed:7821814).Curated | 1 | |
Sequence conflicti | 575 – 577 | WWT → CG in AAA82108 (PubMed:7821814).Curated | 3 | |
Sequence conflicti | 585 | E → Q in AAA82108 (PubMed:7821814).Curated | 1 | |
Sequence conflicti | 599 | D → Y in BAG65166 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 709 | K → R in AAB50779 (PubMed:8823296).Curated | 1 | |
Sequence conflicti | 734 | F → L in BAG65166 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053781 | 354 | R → M. Corresponds to variant dbSNP:rs6995412Ensembl. | 1 | |
Natural variantiVAR_071821 | 735 | R → W in FDLAB. 1 PublicationCorresponds to variant dbSNP:rs374385878EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039165 | 1 – 34 | MAQRK…PGARR → MAEDK in isoform 3, isoform 4, isoform 5, isoform 8, isoform 9 and isoform 10. 5 PublicationsAdd BLAST | 34 | |
Alternative sequenceiVSP_039166 | 84 | L → LAKAKDFRYNLSEVLQ in isoform 3, isoform 5, isoform 7, isoform 8 and isoform 9. 5 Publications | 1 | |
Alternative sequenceiVSP_039167 | 108 – 239 | GLKER…NPDSS → EGPSGVAKRKTKAKVKELTK EELKKEKEKPESRKESKNEE RKKGKKEDVRKDKKIADADL SRKESPKGKKDREKEKVDLE KSAKTKENRKKSTNMKDVSS KMASRDKDDRKESRSSTRYA HLTKGNTQKRNG in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 132 | |
Alternative sequenceiVSP_044235 | 110 – 188 | KERST…DEFLM → TKDGSNENIDSLEEVLNILA EESSDWFYGFLSFLYDIMTP FEMLEEEEEESETADGVDGT SQNEGVQGKTCVILDLHNQ in isoform 7. 1 PublicationAdd BLAST | 79 | |
Alternative sequenceiVSP_044236 | 164 – 206 | Missing in isoform 6 and isoform 9. 2 PublicationsAdd BLAST | 43 | |
Alternative sequenceiVSP_044237 | 189 – 758 | Missing in isoform 7. 1 PublicationAdd BLAST | 570 | |
Alternative sequenceiVSP_059345 | 218 – 236 | Missing in isoform 11. Add BLAST | 19 | |
Alternative sequenceiVSP_039168 | 240 – 758 | Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 519 | |
Alternative sequenceiVSP_044238 | 264 | Missing in isoform 5. 1 Publication | 1 | |
Alternative sequenceiVSP_039169 | 312 – 313 | ET → DT in isoform 2, isoform 5, isoform 6, isoform 8, isoform 9 and isoform 11. 4 Publications | 2 | |
Alternative sequenceiVSP_039170 | 314 – 758 | Missing in isoform 2, isoform 5, isoform 6, isoform 8, isoform 9 and isoform 11. 4 PublicationsAdd BLAST | 445 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5APA | X-ray | 2.05 | A | 562-758 | [»] | |
5JQY | X-ray | 1.99 | A | 330-758 | [»] | |
5JTC | X-ray | 2.24 | A | 330-758 | [»] | |
5JZ6 | X-ray | 2.35 | A | 330-758 | [»] | |
5JZ8 | X-ray | 2.10 | A | 330-758 | [»] | |
5JZA | X-ray | 2.14 | A | 330-758 | [»] | |
5JZU | X-ray | 2.50 | A | 330-758 | [»] | |
6Q9F | X-ray | 1.63 | A | 330-758 | [»] | |
6Q9I | X-ray | 1.85 | A | 330-758 | [»] | |
6QA5 | X-ray | 2.65 | A | 330-758 | [»] | |
6RK9 | X-ray | 2.29 | A/B | 330-758 | [»] | |
6YYU | X-ray | 2.11 | A | 330-758 | [»] | |
6YYV | X-ray | 1.77 | A | 330-758 | [»] | |
6YYW | X-ray | 2.27 | A | 330-758 | [»] | |
6YYX | X-ray | 1.53 | A | 330-758 | [»] | |
6YYY | X-ray | 2.29 | A | 330-758 | [»] | |
6Z6Q | X-ray | 1.81 | A | 330-758 | [»] | |
6Z6R | X-ray | 2.13 | A | 330-758 | [»] | |
7BMI | X-ray | 1.66 | A | 330-758 | [»] | |
7BMJ | X-ray | 1.75 | A/C | 330-758 | [»] | |
7E6J | X-ray | 1.90 | A | 330-758 | [»] | |
AlphaFoldDBi | Q12797 | |||||
SMRi | Q12797 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 106936, 295 interactors |
IntActi | Q12797, 143 interactors |
MINTi | Q12797 |
STRINGi | 9606.ENSP00000368767 |
Chemistry databases
DrugBanki | DB00128, Aspartic acid DB00139, Succinic acid |
DrugCentrali | Q12797 |
Protein family/group databases
TCDBi | 8.A.28.1.5, the ankyrin (ankyrin) family |
PTM databases
GlyConnecti | 1018, 13 N-Linked glycans (1 site) |
GlyGeni | Q12797, 7 sites, 13 N-linked glycans (1 site), 4 O-linked glycans (4 sites) |
iPTMneti | Q12797 |
PhosphoSitePlusi | Q12797 |
SwissPalmi | Q12797 |
Genetic variation databases
BioMutai | ASPH |
DMDMi | 145559444 |
Proteomic databases
EPDi | Q12797 |
jPOSTi | Q12797 |
MassIVEi | Q12797 |
MaxQBi | Q12797 |
PaxDbi | Q12797 |
PeptideAtlasi | Q12797 |
PRIDEi | Q12797 |
ProteomicsDBi | 27096 4295 58944 [Q12797-1] 58945 [Q12797-2] 58946 [Q12797-3] 58947 [Q12797-4] 66767 7252 73953 80510 |
TopDownProteomicsi | Q12797-1 [Q12797-1] Q12797-2 [Q12797-2] |
Protocols and materials databases
Antibodypediai | 24707, 322 antibodies from 30 providers |
DNASUi | 444 |
Genome annotation databases
Organism-specific databases
CTDi | 444 |
DisGeNETi | 444 |
GeneCardsi | ASPH |
HGNCi | HGNC:757, ASPH |
HPAi | ENSG00000198363, Tissue enhanced (adipose) |
MalaCardsi | ASPH |
MIMi | 600582, gene 601552, phenotype |
neXtProti | NX_Q12797 |
OpenTargetsi | ENSG00000198363 |
Orphaneti | 412022, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
PharmGKBi | PA25056 |
VEuPathDBi | HostDB:ENSG00000198363 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3696, Eukaryota |
GeneTreei | ENSGT00940000156304 |
HOGENOMi | CLU_106984_0_0_1 |
InParanoidi | Q12797 |
OMAi | YTELVKX |
OrthoDBi | 1511606at2759 |
PhylomeDBi | Q12797 |
TreeFami | TF312799 |
Enzyme and pathway databases
BRENDAi | 1.14.11.16, 2681 |
PathwayCommonsi | Q12797 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels R-HSA-5578775, Ion homeostasis |
SignaLinki | Q12797 |
Miscellaneous databases
BioGRID-ORCSi | 444, 11 hits in 1077 CRISPR screens |
ChiTaRSi | ASPH, human |
EvolutionaryTracei | Q12797 |
GeneWikii | ASPH |
GenomeRNAii | 444 |
Pharosi | Q12797, Tbio |
PROi | PR:Q12797 |
RNActi | Q12797, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198363, Expressed in palpebral conjunctiva and 239 other tissues |
ExpressionAtlasi | Q12797, baseline and differential |
Genevisiblei | Q12797, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 2 hits 2.60.120.330, 1 hit |
InterProi | View protein in InterPro IPR007943, Asp-B-hydro/Triadin_dom IPR007803, Asp/Arg/Pro-Hydrxlase IPR039038, ASPH IPR027443, IPNS-like_sf IPR011990, TPR-like_helical_dom_sf IPR019734, TPR_repeat |
PANTHERi | PTHR12366, PTHR12366, 1 hit |
Pfami | View protein in Pfam PF05279, Asp-B-Hydro_N, 1 hit PF05118, Asp_Arg_Hydrox, 1 hit |
SMARTi | View protein in SMART SM00028, TPR, 2 hits |
SUPFAMi | SSF48452, SSF48452, 1 hit |
PROSITEi | View protein in PROSITE PS50005, TPR, 2 hits PS50293, TPR_REGION, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ASPH_HUMAN | |
Accessioni | Q12797Primary (citable) accession number: Q12797 Secondary accession number(s): A0A0A0MSK8 Q9Y4J0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | April 17, 2007 | |
Last modified: | May 25, 2022 | |
This is version 210 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families