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Protein

Aspartyl/asparaginyl beta-hydroxylase

Gene

Asph

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.1 Publication

Catalytic activityi

Peptide L-aspartate + 2-oxoglutarate + O2 = peptide 3-hydroxy-L-aspartate + succinate + CO2.1 Publication

Cofactori

Fe cationBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei6082-oxoglutarateBy similarity1
Binding sitei6512-oxoglutarateBy similarity1
Metal bindingi662IronBy similarity1
Metal bindingi708IronBy similarity1
Binding sitei7182-oxoglutarateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi99 – 111By similarityAdd BLAST13

GO - Molecular functioni

  • calcium ion binding Source: MGI
  • peptide-aspartate beta-dioxygenase activity Source: MGI

GO - Biological processi

  • activation of cysteine-type endopeptidase activity Source: MGI
  • activation of store-operated calcium channel activity Source: MGI
  • calcium ion transmembrane transport Source: MGI
  • cellular response to calcium ion Source: MGI
  • face morphogenesis Source: MGI
  • limb morphogenesis Source: MGI
  • negative regulation of cell proliferation Source: MGI
  • pattern specification process Source: MGI
  • peptidyl-aspartic acid hydroxylation Source: MGI
  • positive regulation of calcium ion transport into cytosol Source: MGI
  • positive regulation of intracellular protein transport Source: MGI
  • positive regulation of proteolysis Source: MGI
  • positive regulation of transcription, DNA-templated Source: MGI
  • regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: MGI
  • regulation of protein depolymerization Source: BHF-UCL
  • regulation of protein stability Source: BHF-UCL
  • response to ATP Source: MGI
  • roof of mouth development Source: MGI

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
LigandCalcium, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiR-MMU-2672351 Stimuli-sensing channels
R-MMU-5578775 Ion homeostasis

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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:1914186 Asph

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 62CytoplasmicSequence analysisAdd BLAST62
Transmembranei63 – 83Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini84 – 741LumenalSequence analysisAdd BLAST658

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Disruption phenotypei

Selective disruption of isoform 1 abolishes liver aspartyl beta-hydroxylase activity, but does not affect the expression of isoform 2. Mice lacking isoform 1 have normal blood chemistry, do not present blood coagulation defects and appear more or less normal, except for shorter snouts, mild defects of the palate ridges, syndactily due to fusion of soft tissues and reduced litter size from mutant females, while male fertility appears normal. Mice lacking isoform 2 show no visible phenotype.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002541611 – 741Aspartyl/asparaginyl beta-hydroxylaseAdd BLAST741

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei15PhosphoserineBy similarity1
Glycosylationi453N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi624 ↔ 631By similarity
Glycosylationi689N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8BSY0
PaxDbiQ8BSY0
PRIDEiQ8BSY0

PTM databases

iPTMnetiQ8BSY0
PhosphoSitePlusiQ8BSY0
SwissPalmiQ8BSY0

Expressioni

Tissue specificityi

Isoform 1 is detected in heart, liver and ovary (at protein level). Detected in heart ventricle. Isoform 1 is widely expressed. Isoform 2 is detected in heart and skeletal muscle.3 Publications

Developmental stagei

Strongly expressed in the snout, limbs and eye of embryonic day 11.5 (E11.5) and E12. Strong localization of the protein in the lens of the developing eye at all three stages.1 Publication

Gene expression databases

BgeeiENSMUSG00000028207
CleanExiMM_ASPH
ExpressionAtlasiQ8BSY0 baseline and differential
GenevisibleiQ8BSY0 MM

Interactioni

Subunit structurei

Monomer. Isoform 2 interacts with CASQ2.By similarity

Protein-protein interaction databases

BioGridi211167, 3 interactors
IntActiQ8BSY0, 8 interactors
MINTiQ8BSY0
STRINGi10090.ENSMUSP00000077273

Structurei

3D structure databases

ProteinModelPortaliQ8BSY0
SMRiQ8BSY0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati324 – 357TPR 1Add BLAST34
Repeati365 – 398TPR 2Add BLAST34
Repeati437 – 470TPR 3Add BLAST34
Repeati472 – 504TPR 4Add BLAST33
Repeati508 – 540TPR 5Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni671 – 6732-oxoglutarate bindingBy similarity3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 61Gly-richAdd BLAST53
Compositional biasi14 – 38Ser-richAdd BLAST25
Compositional biasi310 – 315Poly-Lys6

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal-anchor, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3696 Eukaryota
COG3555 LUCA
GeneTreeiENSGT00530000063281
HOGENOMiHOG000231625
HOVERGENiHBG004290
InParanoidiQ8BSY0
KOiK00476
OMAiRNENACK
OrthoDBiEOG091G0H5R
PhylomeDBiQ8BSY0
TreeFamiTF312799

Family and domain databases

Gene3Di1.25.40.10, 2 hits
2.60.120.330, 1 hit
InterProiView protein in InterPro
IPR007943 Asp-B-hydro/Triadin_dom
IPR007803 Asp/Arg/Pro-Hydrxlase
IPR027443 IPNS-like
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF05279 Asp-B-Hydro_N, 1 hit
PF05118 Asp_Arg_Hydrox, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 2 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 2 hits
PS50293 TPR_REGION, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8BSY0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAPRKNAKGG GGNSSSSGSG SGSGSGSPST GSSGSSSSPG ARREAKHGGH
60 70 80 90 100
KNGRRGGISG GSFFTWFMVI ALLGVWTSVA VVWFDLVDYE EVLGKLGVYD
110 120 130 140 150
ADGDGDFDVD DAKVLLGLKE RSPSERTFPP EEEAETHAEL EEQAPEGADI
160 170 180 190 200
QNVEDEVKEQ IQSLLQESVH TDHDLEADGL AGEPQPEVED FLTVTDSDDR
210 220 230 240 250
FEDLEPGTVH EEIEDTYHVE DTASQNHPND MEEMTNEQEN SDPSEAVTDA
260 270 280 290 300
GVLLPHAEEV RHQDYDEPVY EPSEHEGVAI SDNTIDDSSI ISEEINVASV
310 320 330 340 350
EEQQDTPPVK KKKPKLLNKF DKTIKAELDA AEKLRKRGKI EEAVNAFEEL
360 370 380 390 400
VRKYPQSPRA RYGKAQCEDD LAEKQRSNEV LRRAIETYQE AADLPDAPTD
410 420 430 440 450
LVKLSLKRRS ERQQFLGHMR GSLLTLQRLV QLFPSDTTLK NDLGVGYLLL
460 470 480 490 500
GDNDSAKKVY EEVLNVTPND GFAKVHYGFI LKAQNKISES IPYLKEGIES
510 520 530 540 550
GDPGTDDGRF YFHLGDAMQR VGNKEAYKWY ELGHKRGHFA SVWQRSLYNV
560 570 580 590 600
NGLKAQPWWT PRETGYTELV KSLERNWKLI RDEGLMVMDK AKGLFLPEDE
610 620 630 640 650
NLREKGDWSQ FTLWQQGRKN ENACKGAPKT CALLEKFSET TGCRRGQIKY
660 670 680 690 700
SIMHPGTHVW PHTGPTNCRL RMHLGLVIPK EGCKIRCANE TRTWEEGKVL
710 720 730 740
IFDDSFEHEV WQDASSFRLI FIVDVWHPEL TPQQRRSLPA I
Length:741
Mass (Da):83,042
Last modified:March 1, 2003 - v1
Checksum:i0660A6A5E34418C8
GO
Isoform 2 (identifier: Q8BSY0-2) [UniParc]FASTAAdd to basket
Also known as: Junctin

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: MAPRKNAKGGGGNSSSSGSGSGSGSGSPSTGSSGSSSSPGARR → MAEDK
     117-245: GLKERSPSER...NEQENSDPSE → EGPGGLAKRK...SKENGQKRKN
     246-741: Missing.

Show »
Length:207
Mass (Da):22,757
Checksum:i37A13D30E49CD67C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti131 – 132Missing in AAG40808 (PubMed:10956665).Curated2
Sequence conflicti131 – 132Missing in AAG40809 (PubMed:10956665).Curated2
Sequence conflicti279A → E in AAG40808 (PubMed:10956665).Curated1
Sequence conflicti279A → E in AAG40809 (PubMed:10956665).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0567921 – 43MAPRK…PGARR → MAEDK in isoform 2. CuratedAdd BLAST43
Alternative sequenceiVSP_056793117 – 245GLKER…SDPSE → EGPGGLAKRKTKAKAKEPIK EELKKERGKAVPSKNEERRQ GKKEQEDRGKGRKKPDSDTS QKASAAGKRDRDKEKASSDK SSKSKESWKKAVETKAVSSK VAARDKDRRGRSSSGHAHVS KENGQKRKN in isoform 2. CuratedAdd BLAST129
Alternative sequenceiVSP_056794246 – 741Missing in isoform 2. CuratedAdd BLAST496

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF221854 mRNA Translation: AAK00614.1
AF289486 mRNA Translation: AAG40808.1
AF289487 mRNA Translation: AAG40809.1
AF289490 mRNA Translation: AAG40812.1
AF223413 mRNA Translation: AAN87549.1
AK030293 mRNA Translation: BAC26882.1
BC128299 mRNA Translation: AAI28300.1
BC152365 mRNA Translation: AAI52366.1
CCDSiCCDS17959.1 [Q8BSY0-2]
CCDS38690.1 [Q8BSY0-1]
RefSeqiNP_001171321.1, NM_001177850.1
NP_001171323.1, NM_001177852.1
NP_001171324.1, NM_001177853.1
NP_001171325.1, NM_001177854.1
NP_001171326.1, NM_001177855.1
NP_001277296.1, NM_001290367.1
NP_075553.2, NM_023066.3 [Q8BSY0-1]
UniGeneiMm.222206
Mm.412008

Genome annotation databases

EnsembliENSMUST00000078139; ENSMUSP00000077273; ENSMUSG00000028207 [Q8BSY0-1]
GeneIDi65973
KEGGimmu:65973
UCSCiuc008ryf.2 mouse [Q8BSY0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiASPH_MOUSE
AccessioniPrimary (citable) accession number: Q8BSY0
Secondary accession number(s): Q9EPA6, Q9EQ64
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 1, 2003
Last modified: May 23, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

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