Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Aspartyl/asparaginyl beta-hydroxylase

Gene

ASPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Isoform 8: membrane-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 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 sitei6252-oxoglutarate1 Publication1
Binding sitei6682-oxoglutarate1 Publication1
Metal bindingi679IronCurated1
Metal bindingi725IronCurated1
Binding sitei7352-oxoglutarate1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi90 – 1021 PublicationAdd BLAST13

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • electron carrier activity Source: UniProtKB
  • ion channel binding Source: BHF-UCL
  • peptide-aspartate beta-dioxygenase activity Source: ProtInc
  • structural constituent of muscle Source: ProtInc
  • structural molecule activity Source: ProtInc

GO - Biological processi

  • activation of cysteine-type endopeptidase activity Source: BHF-UCL
  • activation of store-operated calcium channel activity Source: UniProtKB
  • calcium ion transmembrane transport Source: UniProtKB
  • cellular response to calcium ion Source: UniProtKB
  • detection of calcium ion Source: BHF-UCL
  • ion transmembrane transport Source: Reactome
  • muscle contraction Source: ProtInc
  • peptidyl-amino acid modification Source: InterPro
  • 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 conduction Source: Reactome
  • 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 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
Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Oxidoreductase

Keywords - Ligandi

Calcium, Iron, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS09135-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:757. ASPH.

Subcellular locationi

Isoform 1 :
Isoform 4 :
Isoform 8 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 53CytoplasmicSequence analysisAdd BLAST53
Transmembranei54 – 74Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini75 – 758LumenalSequence analysisAdd BLAST684

GO - Cellular componenti

  • calcium channel complex Source: BHF-UCL
  • cortical endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum Source: HPA
  • endoplasmic reticulum membrane Source: UniProtKB
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  • plasma membrane Source: UniProtKB
  • sarcoplasmic reticulum lumen Source: BHF-UCL
  • sarcoplasmic reticulum membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs).
See also OMIM:601552
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071821735R → W in FDLAB. 1 PublicationCorresponds to variant rs374385878dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi91 – 93DAD → AAA: Increase in cytoplasmic Ca(2+) via activation of endogenous CRAC channels. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi444.
MalaCardsiASPH.
MIMi601552. phenotype.
OpenTargetsiENSG00000198363.
ENSG00000283485.
PharmGKBiPA25056.

Chemistry databases

DrugBankiDB00128. L-Aspartic Acid.
DB00139. Succinic acid.

Polymorphism and mutation databases

BioMutaiASPH.
DMDMi145559444.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647061 – 758Aspartyl/asparaginyl beta-hydroxylaseAdd BLAST758

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineCombined sources1
Glycosylationi452N-linked (GlcNAc...)1
Disulfide bondi641 ↔ 6481 Publication
Glycosylationi706N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ12797.
MaxQBiQ12797.
PaxDbiQ12797.
PeptideAtlasiQ12797.
PRIDEiQ12797.
TopDownProteomicsiQ12797-1. [Q12797-1]
Q12797-2. [Q12797-2]

PTM databases

iPTMnetiQ12797.
PhosphoSitePlusiQ12797.
SwissPalmiQ12797.

Expressioni

Tissue specificityi

Isoform 1 is detected in all tissues tested. Isoform 8 is mainly expressed in pancreas, heart, brain, kidney and liver. Isoform 8 is expressed in kidney (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000198363.
CleanExiHS_ASPH.
ExpressionAtlasiQ12797. baseline and differential.
GenevisibleiQ12797. HS.

Organism-specific databases

HPAiHPA055161.
HPA059303.

Interactioni

Subunit structurei

Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1. Isoform 4 interacts with CASQ2.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ASNA1O436813EBI-2967294,EBI-2515857

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi106936. 40 interactors.
IntActiQ12797. 24 interactors.
STRINGi9606.ENSP00000368767.

Structurei

Secondary structure

1758
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi574 – 576Combined sources3
Helixi578 – 581Combined sources4
Helixi584 – 592Combined sources9
Helixi594 – 604Combined sources11
Turni607 – 610Combined sources4
Beta strandi620 – 623Combined sources4
Beta strandi625 – 632Combined sources8
Helixi638 – 643Combined sources6
Helixi645 – 651Combined sources7
Helixi655 – 658Combined sources4
Beta strandi664 – 670Combined sources7
Beta strandi674 – 679Combined sources6
Beta strandi686 – 694Combined sources9
Beta strandi697 – 704Combined sources8
Beta strandi707 – 709Combined sources3
Beta strandi716 – 719Combined sources4
Beta strandi725 – 729Combined sources5
Beta strandi731 – 733Combined sources3
Beta strandi735 – 743Combined sources9
Helixi749 – 754Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5APAX-ray2.05A562-758[»]
ProteinModelPortaliQ12797.
SMRiQ12797.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12797.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati341 – 374TPR 1Add BLAST34
Repeati454 – 487TPR 2Add BLAST34
Repeati489 – 521TPR 3Add BLAST33
Repeati525 – 557TPR 4Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni688 – 6902-oxoglutarate binding1 Publication3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 29Ser-richAdd BLAST21
Compositional biasi111 – 312Glu-richAdd BLAST202
Compositional biasi323 – 332Poly-Lys10

Sequence similaritiesi

Contains 4 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG3696. Eukaryota.
COG3555. LUCA.
GeneTreeiENSGT00530000063281.
HOGENOMiHOG000231622.
HOVERGENiHBG004290.
InParanoidiQ12797.
KOiK00476.
OMAiRNENACK.
OrthoDBiEOG091G0H5R.
PhylomeDBiQ12797.
TreeFamiTF312799.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
2.60.120.330. 1 hit.
InterProiIPR007943. Asp-B-hydro/Triadin_dom.
IPR007803. Asp/Arg/Pro-Hydrxlase.
IPR027443. IPNS-like.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF05279. Asp-B-Hydro_N. 1 hit.
PF05118. Asp_Arg_Hydrox. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 2 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 2 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (10)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Comment: 3 functionally distinct proteins are produced by alternative splicing: Aspartyl/asparaginyl beta-hydroxylase, Junctin and Junctate. Additional isoforms are produced by alternative splicing.1 Publication
Isoform 1 (identifier: Q12797-1) [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
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
Length:758
Mass (Da):85,863
Last modified:April 17, 2007 - v3
Checksum:i4AE56D1D8DF0AF0C
GO
Isoform 2 (identifier: Q12797-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     312-313: ET → DT
     314-758: Missing.

Show »
Length:313
Mass (Da):34,646
Checksum:i7885A18B81CD6D0D
GO
Isoform 3 (identifier: Q12797-3) [UniParc]FASTAAdd to basket
Also known as: Junctin-1, Cardiac junctin

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.

Note: Glycosylated on Asn-64.
Show »
Length:225
Mass (Da):25,560
Checksum:i27D331DD6D88E0D3
GO
Isoform 4 (identifier: Q12797-4) [UniParc]FASTAAdd to basket
Also known as: Junctin-2, Junctin

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.

Show »
Length:210
Mass (Da):23,796
Checksum:i8E7C39D69F2B22C7
GO
Isoform 5 (identifier: Q12797-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK
     84-84: L → LAKAKDFRYNLSEVLQ
     264-264: Missing.
     312-313: ET → DT
     314-758: Missing.

Show »
Length:298
Mass (Da):33,744
Checksum:iB28D921E5021348B
GO
Isoform 10 (identifier: Q12797-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK

Show »
Length:729
Mass (Da):83,268
Checksum:iEA17281494828D62
GO
Isoform 6 (identifier: Q12797-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     164-206: Missing.
     312-313: ET → DT
     314-758: Missing.

Show »
Length:270
Mass (Da):29,757
Checksum:i8551773C7272202A
GO
Isoform 7 (identifier: Q12797-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-84: L → LAKAKDFRYNLSEVLQ
     110-188: KERSTSEPAV...PQQEDDEFLM → TKDGSNENID...TCVILDLHNQ
     189-758: Missing.

Show »
Length:203
Mass (Da):21,963
Checksum:i3EC728B1E417091C
GO
Isoform 8 (identifier: Q12797-8) [UniParc]FASTAAdd to basket
Also known as: Junctate

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK
     84-84: L → LAKAKDFRYNLSEVLQ
     312-313: ET → DT
     314-758: Missing.

Show »
Length:299
Mass (Da):33,815
Checksum:i658F88C34EC2CA37
GO
Isoform 9 (identifier: Q12797-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARR → MAEDK
     84-84: L → LAKAKDFRYNLSEVLQ
     164-206: Missing.
     312-313: ET → DT
     314-758: Missing.

Show »
Length:256
Mass (Da):28,926
Checksum:i8C892EC3D1AE1BCC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti519D → N in BAG65166 (PubMed:14702039).Curated1
Sequence conflicti565Y → I in AAA82108 (PubMed:7821814).Curated1
Sequence conflicti575 – 577WWT → CG in AAA82108 (PubMed:7821814).Curated3
Sequence conflicti585E → Q in AAA82108 (PubMed:7821814).Curated1
Sequence conflicti599D → Y in BAG65166 (PubMed:14702039).Curated1
Sequence conflicti709K → R in AAB50779 (PubMed:8823296).Curated1
Sequence conflicti734F → L in BAG65166 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053781354R → M.Corresponds to variant rs6995412dbSNPEnsembl.1
Natural variantiVAR_071821735R → W in FDLAB. 1 PublicationCorresponds to variant rs374385878dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0391651 – 34MAQRK…PGARR → MAEDK in isoform 3, isoform 4, isoform 5, isoform 8, isoform 9 and isoform 10. 5 PublicationsAdd BLAST34
Alternative sequenceiVSP_03916684L → LAKAKDFRYNLSEVLQ in isoform 3, isoform 5, isoform 7, isoform 8 and isoform 9. 5 Publications1
Alternative sequenceiVSP_039167108 – 239GLKER…NPDSS → EGPSGVAKRKTKAKVKELTK EELKKEKEKPESRKESKNEE RKKGKKEDVRKDKKIADADL SRKESPKGKKDREKEKVDLE KSAKTKENRKKSTNMKDVSS KMASRDKDDRKESRSSTRYA HLTKGNTQKRNG in isoform 3 and isoform 4. 2 PublicationsAdd BLAST132
Alternative sequenceiVSP_044235110 – 188KERST…DEFLM → TKDGSNENIDSLEEVLNILA EESSDWFYGFLSFLYDIMTP FEMLEEEEEESETADGVDGT SQNEGVQGKTCVILDLHNQ in isoform 7. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_044236164 – 206Missing in isoform 6 and isoform 9. 2 PublicationsAdd BLAST43
Alternative sequenceiVSP_044237189 – 758Missing in isoform 7. 1 PublicationAdd BLAST570
Alternative sequenceiVSP_039168240 – 758Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST519
Alternative sequenceiVSP_044238264Missing in isoform 5. 1 Publication1
Alternative sequenceiVSP_039169312 – 313ET → DT in isoform 2, isoform 5, isoform 6, isoform 8 and isoform 9. 4 Publications2
Alternative sequenceiVSP_039170314 – 758Missing in isoform 2, isoform 5, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST445

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03109 mRNA. Translation: AAA82108.1.
S83325 mRNA. Translation: AAB50779.1.
AF224468 mRNA. Translation: AAF82246.1.
AF224469 mRNA. Translation: AAF82247.1.
AF289489 mRNA. Translation: AAG40811.1.
AF306765 mRNA. Translation: AAG42257.1.
AF184241 mRNA. Translation: AAG16983.1.
AK295528 mRNA. Translation: BAG58441.1.
AK304314 mRNA. Translation: BAG65166.1.
AC067881 Genomic DNA. No translation available.
AC090094 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86841.1.
CH471068 Genomic DNA. Translation: EAW86840.1.
CH471068 Genomic DNA. Translation: EAW86847.1.
CH471068 Genomic DNA. Translation: EAW86848.1.
CH471068 Genomic DNA. Translation: EAW86849.1.
BC025236 mRNA. Translation: AAH25236.1.
BC066929 mRNA. Translation: AAH66929.1.
BC142967 mRNA. Translation: AAI42968.1.
BC144362 mRNA. Translation: AAI44363.1.
CCDSiCCDS34898.1. [Q12797-1]
CCDS34899.1. [Q12797-4]
CCDS34900.1. [Q12797-3]
CCDS43742.1. [Q12797-2]
CCDS47866.1. [Q12797-8]
CCDS55234.1. [Q12797-10]
CCDS55235.1. [Q12797-9]
CCDS55236.1. [Q12797-5]
CCDS55237.1. [Q12797-6]
CCDS55238.1. [Q12797-7]
PIRiI38423.
RefSeqiNP_001158222.1. NM_001164750.1. [Q12797-10]
NP_001158223.1. NM_001164751.1. [Q12797-5]
NP_001158225.1. NM_001164753.1. [Q12797-9]
NP_001158227.1. NM_001164755.1. [Q12797-6]
NP_001158228.1. NM_001164756.1. [Q12797-7]
NP_004309.2. NM_004318.3. [Q12797-1]
NP_064549.1. NM_020164.4. [Q12797-3]
NP_115855.1. NM_032466.3. [Q12797-2]
NP_115856.1. NM_032467.3. [Q12797-4]
NP_115857.1. NM_032468.4. [Q12797-8]
UniGeneiHs.332422.

Genome annotation databases

EnsembliENST00000356457; ENSP00000348841; ENSG00000198363. [Q12797-2]
ENST00000379449; ENSP00000368762; ENSG00000198363. [Q12797-7]
ENST00000379454; ENSP00000368767; ENSG00000198363. [Q12797-1]
ENST00000389204; ENSP00000373856; ENSG00000198363. [Q12797-3]
ENST00000517847; ENSP00000429954; ENSG00000198363. [Q12797-8]
ENST00000517903; ENSP00000430245; ENSG00000198363. [Q12797-5]
ENST00000518068; ENSP00000429286; ENSG00000198363. [Q12797-6]
ENST00000522603; ENSP00000436188; ENSG00000198363. [Q12797-4]
ENST00000522835; ENSP00000429160; ENSG00000198363. [Q12797-9]
GeneIDi444.
KEGGihsa:444.
UCSCiuc003xuj.4. human. [Q12797-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03109 mRNA. Translation: AAA82108.1.
S83325 mRNA. Translation: AAB50779.1.
AF224468 mRNA. Translation: AAF82246.1.
AF224469 mRNA. Translation: AAF82247.1.
AF289489 mRNA. Translation: AAG40811.1.
AF306765 mRNA. Translation: AAG42257.1.
AF184241 mRNA. Translation: AAG16983.1.
AK295528 mRNA. Translation: BAG58441.1.
AK304314 mRNA. Translation: BAG65166.1.
AC067881 Genomic DNA. No translation available.
AC090094 Genomic DNA. No translation available.
CH471068 Genomic DNA. Translation: EAW86841.1.
CH471068 Genomic DNA. Translation: EAW86840.1.
CH471068 Genomic DNA. Translation: EAW86847.1.
CH471068 Genomic DNA. Translation: EAW86848.1.
CH471068 Genomic DNA. Translation: EAW86849.1.
BC025236 mRNA. Translation: AAH25236.1.
BC066929 mRNA. Translation: AAH66929.1.
BC142967 mRNA. Translation: AAI42968.1.
BC144362 mRNA. Translation: AAI44363.1.
CCDSiCCDS34898.1. [Q12797-1]
CCDS34899.1. [Q12797-4]
CCDS34900.1. [Q12797-3]
CCDS43742.1. [Q12797-2]
CCDS47866.1. [Q12797-8]
CCDS55234.1. [Q12797-10]
CCDS55235.1. [Q12797-9]
CCDS55236.1. [Q12797-5]
CCDS55237.1. [Q12797-6]
CCDS55238.1. [Q12797-7]
PIRiI38423.
RefSeqiNP_001158222.1. NM_001164750.1. [Q12797-10]
NP_001158223.1. NM_001164751.1. [Q12797-5]
NP_001158225.1. NM_001164753.1. [Q12797-9]
NP_001158227.1. NM_001164755.1. [Q12797-6]
NP_001158228.1. NM_001164756.1. [Q12797-7]
NP_004309.2. NM_004318.3. [Q12797-1]
NP_064549.1. NM_020164.4. [Q12797-3]
NP_115855.1. NM_032466.3. [Q12797-2]
NP_115856.1. NM_032467.3. [Q12797-4]
NP_115857.1. NM_032468.4. [Q12797-8]
UniGeneiHs.332422.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5APAX-ray2.05A562-758[»]
ProteinModelPortaliQ12797.
SMRiQ12797.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106936. 40 interactors.
IntActiQ12797. 24 interactors.
STRINGi9606.ENSP00000368767.

Chemistry databases

DrugBankiDB00128. L-Aspartic Acid.
DB00139. Succinic acid.

PTM databases

iPTMnetiQ12797.
PhosphoSitePlusiQ12797.
SwissPalmiQ12797.

Polymorphism and mutation databases

BioMutaiASPH.
DMDMi145559444.

Proteomic databases

EPDiQ12797.
MaxQBiQ12797.
PaxDbiQ12797.
PeptideAtlasiQ12797.
PRIDEiQ12797.
TopDownProteomicsiQ12797-1. [Q12797-1]
Q12797-2. [Q12797-2]

Protocols and materials databases

DNASUi444.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356457; ENSP00000348841; ENSG00000198363. [Q12797-2]
ENST00000379449; ENSP00000368762; ENSG00000198363. [Q12797-7]
ENST00000379454; ENSP00000368767; ENSG00000198363. [Q12797-1]
ENST00000389204; ENSP00000373856; ENSG00000198363. [Q12797-3]
ENST00000517847; ENSP00000429954; ENSG00000198363. [Q12797-8]
ENST00000517903; ENSP00000430245; ENSG00000198363. [Q12797-5]
ENST00000518068; ENSP00000429286; ENSG00000198363. [Q12797-6]
ENST00000522603; ENSP00000436188; ENSG00000198363. [Q12797-4]
ENST00000522835; ENSP00000429160; ENSG00000198363. [Q12797-9]
GeneIDi444.
KEGGihsa:444.
UCSCiuc003xuj.4. human. [Q12797-1]

Organism-specific databases

CTDi444.
DisGeNETi444.
GeneCardsiASPH.
HGNCiHGNC:757. ASPH.
HPAiHPA055161.
HPA059303.
MalaCardsiASPH.
MIMi600582. gene.
601552. phenotype.
neXtProtiNX_Q12797.
OpenTargetsiENSG00000198363.
ENSG00000283485.
PharmGKBiPA25056.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3696. Eukaryota.
COG3555. LUCA.
GeneTreeiENSGT00530000063281.
HOGENOMiHOG000231622.
HOVERGENiHBG004290.
InParanoidiQ12797.
KOiK00476.
OMAiRNENACK.
OrthoDBiEOG091G0H5R.
PhylomeDBiQ12797.
TreeFamiTF312799.

Enzyme and pathway databases

BioCyciZFISH:HS09135-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.

Miscellaneous databases

ChiTaRSiASPH. human.
EvolutionaryTraceiQ12797.
GeneWikiiASPH.
GenomeRNAii444.
PROiQ12797.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198363.
CleanExiHS_ASPH.
ExpressionAtlasiQ12797. baseline and differential.
GenevisibleiQ12797. HS.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
2.60.120.330. 1 hit.
InterProiIPR007943. Asp-B-hydro/Triadin_dom.
IPR007803. Asp/Arg/Pro-Hydrxlase.
IPR027443. IPNS-like.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF05279. Asp-B-Hydro_N. 1 hit.
PF05118. Asp_Arg_Hydrox. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 2 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 2 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASPH_HUMAN
AccessioniPrimary (citable) accession number: Q12797
Secondary accession number(s): A6NDF4
, A6NHI2, B4DIC9, B4E2K4, B7ZM95, E5RGP5, F5H667, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: November 30, 2016
This is version 167 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.