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UniProtKB - Q12797 (ASPH_HUMAN)

Entry version 206 (07 Apr 2021)
Sequence version 3 (17 Apr 2007)
Previous versions | rss
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Protein

Aspartyl/asparaginyl beta-hydroxylase

Gene

ASPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Fe cationBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei6252-oxoglutarate1 Publication1
Binding sitei6682-oxoglutarate1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi679IronCurated1
Metal bindingi725IronCurated1
Binding sitei7352-oxoglutarate1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi90 – 1021 PublicationAdd BLAST13

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDioxygenase, Oxidoreductase
LigandCalcium, Iron, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q12797

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2672351, Stimuli-sensing channels
R-HSA-5578775, Ion homeostasis

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.28.1.5, the ankyrin (ankyrin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ASPH
Synonyms:BAH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:757, ASPH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600582, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q12797

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198363.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 53CytoplasmicSequence analysisAdd BLAST53
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei54 – 74Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini75 – 758LumenalSequence analysisAdd BLAST684

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)1 Publication
The disease is caused by variants 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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071821735R → W in FDLAB. 1 PublicationCorresponds to variant dbSNP:rs374385878EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi91 – 93DAD → AAA: Increase in cytoplasmic Ca(2+) via activation of endogenous CRAC channels. 1 Publication3

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		444

MalaCards human disease database

More...MalaCardsi		ASPH
MIMi601552, phenotype

Open Targets

More...OpenTargetsi		ENSG00000198363

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		412022, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25056

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q12797, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00128, Aspartic acid
DB00139, Succinic acid

DrugCentral

More...DrugCentrali		Q12797

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ASPH

Domain mapping of disease mutations (DMDM)

More...DMDMi		145559444

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000647061 – 758Aspartyl/asparaginyl beta-hydroxylaseAdd BLAST758

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei14PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi452N-linked (GlcNAc...) asparagine1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi641 ↔ 6481 Publication
Glycosylationi706N-linked (GlcNAc...) asparagineSequence analysis1
Isoform 3 (identifier: Q12797-3)
Glycosylationi64N-linked (GlcNAc...) asparagineCurated1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q12797

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12797

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12797

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q12797

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q12797

PeptideAtlas

More...PeptideAtlasi		Q12797

PRoteomics IDEntifications database

More...PRIDEi		Q12797

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		27096
4295
58944 [Q12797-1]
58945 [Q12797-2]
58946 [Q12797-3]
58947 [Q12797-4]
66767
7252
73953
80510

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q12797-1 [Q12797-1]
Q12797-2 [Q12797-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1018, 13 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q12797, 6 sites, 1 N-linked glycan (1 site), 3 O-linked glycans (3 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q12797

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q12797

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q12797

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198363, Expressed in palpebral conjunctiva and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q12797, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q12797, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198363, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (By similarity).

Isoform 8 interacts with ORAI1 and STIM1.

Isoform 4 interacts with CASQ2.

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q12797
With#Exp.IntAct
GET3 [O43681]3EBI-2967294,EBI-2515857
Isoform 6 [Q12797-6]
With#Exp.IntAct
AGR2 [O95994]3EBI-12092171,EBI-712648
BGLAP [P02818]3EBI-12092171,EBI-12927282
CST1 [P01037]3EBI-12092171,EBI-1056240
CXorf66 [Q5JRM2]3EBI-12092171,EBI-12823659
DCD [P81605]3EBI-12092171,EBI-395625
DEFB1 [P60022]3EBI-12092171,EBI-7200390
DHRSX [Q8N5I4]3EBI-12092171,EBI-3923585
DYNC1H1 [Q14204]3EBI-12092171,EBI-356015
ENPP6 [Q6UWR7]3EBI-12092171,EBI-13382816
FDCSP [Q8NFU4]3EBI-12092171,EBI-12210457
FGFBP1 [Q14512]3EBI-12092171,EBI-953742
FKBP7 [Q9Y680]3EBI-12092171,EBI-3918971
GAL [P22466]3EBI-12092171,EBI-6624768
GAST [P01350]3EBI-12092171,EBI-3436637
GET3 [O43681]3EBI-12092171,EBI-2515857
GOLM1 [Q8NBJ4]3EBI-12092171,EBI-712073
GPR119 [Q8TDV5]3EBI-12092171,EBI-17253531
GPX7 [Q96SL4]3EBI-12092171,EBI-749411
GPX8 [Q8TED1]3EBI-12092171,EBI-11721746
GSC2 [O15499]3EBI-12092171,EBI-19954058
GUCA2A [Q02747]3EBI-12092171,EBI-12244272
HTT [P42858]6EBI-12092171,EBI-466029
IL21 [Q9HBE4]3EBI-12092171,EBI-6595560
INSL5 [Q9Y5Q6]3EBI-12092171,EBI-21626318
KCNIP1 - isoform 2 [Q9NZI2-2]3EBI-12092171,EBI-22452746
KCNIP3 [Q9Y2W7]3EBI-12092171,EBI-751501
KCNIP4 [Q6PIL6]3EBI-12092171,EBI-1051469
KLK6 [Q92876]3EBI-12092171,EBI-2432309
LCN2 [P80188]3EBI-12092171,EBI-11911016
LRPAP1 [P30533]3EBI-12092171,EBI-715927
LTA [P01374]3EBI-12092171,EBI-524105
OCIAD1 [Q9NX40]3EBI-12092171,EBI-2683029
PCSK4 [Q6UW60]3EBI-12092171,EBI-13342757
PDGFA - isoform Short [P04085-2]5EBI-12092171,EBI-11995148
PLAAT2 [Q9NWW9]3EBI-12092171,EBI-12253270
PLEKHF2 [Q9H8W4]3EBI-12092171,EBI-742388
PPGB [Q59EV6]3EBI-12092171,EBI-14210385
PRAP1 [Q96NZ9]3EBI-12092171,EBI-2116102
PRB1 [A5D903]6EBI-12092171,EBI-10173935
PRB2 [P02812]3EBI-12092171,EBI-19951389
PTH [P01270]3EBI-12092171,EBI-716817
PTN [P21246]3EBI-12092171,EBI-473725
RCN1 [Q15293]3EBI-12092171,EBI-948278
RELL2 [Q8NC24]3EBI-12092171,EBI-10269209
RNASEH1 [O60930]3EBI-12092171,EBI-2372399
SCGB1C2 [P0DMR2]3EBI-12092171,EBI-12947705
SDC2 [P34741]5EBI-12092171,EBI-1172957
SF3A2 [Q15428]3EBI-12092171,EBI-2462271
SGTB [Q96EQ0]3EBI-12092171,EBI-744081
SHISAL1 [Q3SXP7]3EBI-12092171,EBI-18037857
SLC51B [Q86UW2]5EBI-12092171,EBI-12266756
SMIM11A [P58511]3EBI-12092171,EBI-1051936
SMIM19 [Q96E16]3EBI-12092171,EBI-17657124
SOD3 [P08294]3EBI-12092171,EBI-10195782
SPINK1 [P00995]3EBI-12092171,EBI-8054204
TMEM167B [Q9NRX6]3EBI-12092171,EBI-17684533
TMX2 [Q9Y320]3EBI-12092171,EBI-6447886
TNFRSF10B [O14763]3EBI-12092171,EBI-518882
TUFM [A0A384ME17]3EBI-12092171,EBI-12261790
TXNDC15 [Q96J42]3EBI-12092171,EBI-2908241
UGT2B11 [O75310]3EBI-12092171,EBI-12891746
WFDC12 [Q8WWY7]3EBI-12092171,EBI-11958577
WFDC5 [Q8TCV5]3EBI-12092171,EBI-12175871
ZG16 [O60844]3EBI-12092171,EBI-746479
A0A087WZY13EBI-12092171,EBI-13387614
A0A1U9X8X83EBI-12092171,EBI-17234977
Isoform 7 [Q12797-7]
With#Exp.IntAct
HTT [P42858]3EBI-25953099,EBI-466029

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106936, 208 interactors

Protein interaction database and analysis system

More...IntActi		Q12797, 136 interactors

Molecular INTeraction database

More...MINTi		Q12797

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000368767

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q12797, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1758
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q12797

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q12797

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati341 – 374TPR 1Add BLAST34
Repeati454 – 487TPR 2Add BLAST34
Repeati489 – 521TPR 3Add BLAST33
Repeati525 – 557TPR 4Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni688 – 6902-oxoglutarate binding1 Publication3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi9 – 29Ser-richAdd BLAST21
Compositional biasi111 – 312Glu-richAdd BLAST202
Compositional biasi323 – 332Poly-Lys10

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the aspartyl/asparaginyl beta-hydroxylase family.Curated

Keywords - Domaini

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3696, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156304

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_106984_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12797

Identification of Orthologs from Complete Genome Data

More...OMAi		EDSYHIE

Database of Orthologous Groups

More...OrthoDBi		1511606at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q12797

TreeFam database of animal gene trees

More...TreeFami		TF312799

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.10, 1 hit
2.60.120.330, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007943, Asp-B-hydro/Triadin_dom
IPR007803, Asp/Arg/Pro-Hydrxlase
IPR039038, ASPH
IPR027443, IPNS-like
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

The PANTHER Classification System

More...PANTHERi		PTHR12366, PTHR12366, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05279, Asp-B-Hydro_N, 1 hit
PF05118, Asp_Arg_Hydrox, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00028, TPR, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48452, SSF48452, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50005, TPR, 2 hits
PS50293, TPR_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (11+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 11 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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

This entry has 11 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12797-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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
Isoform 11 (identifier: Q12797-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     218-236: Missing.
     312-313: ET → DT
     314-758: Missing.

Show »
Length:294
Mass (Da):32,420
Checksum:iD555F118E25C9AA9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RG29E5RG29_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
198Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG56E5RG56_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
327Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHJ2E5RHJ2_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
113Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3XAN5G3XAN5_HUMAN
Aspartate beta-hydroxylase, isoform...
ASPH hCG_1787219
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WW51A0A087WW51_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
195Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJL3E5RJL3_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WUJ2A0A087WUJ2_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X0J4A0A087X0J4_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHK2E5RHK2_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WW05A0A087WW05_HUMAN
Aspartyl/asparaginyl beta-hydroxyla...
ASPH
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs6995412Ensembl.1
Natural variantiVAR_071821735R → W in FDLAB. 1 PublicationCorresponds to variant dbSNP:rs374385878EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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_059345218 – 236Missing in isoform 11. Add BLAST19
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, isoform 9 and isoform 11. 4 Publications2
Alternative sequenceiVSP_039170314 – 758Missing in isoform 2, isoform 5, isoform 6, isoform 8, isoform 9 and isoform 11. 4 PublicationsAdd BLAST445

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34898.1 [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]
CCDS75746.1 [Q12797-11]

Protein sequence database of the Protein Information Resource

More...PIRi		I38423

NCBI Reference Sequences

More...RefSeqi		NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000356457; ENSP00000348841; ENSG00000198363 [Q12797-2]
ENST00000379449; ENSP00000368762; ENSG00000198363 [Q12797-7]
ENST00000379454; ENSP00000368767; ENSG00000198363 [Q12797-1]
ENST00000389204; ENSP00000373856; ENSG00000198363 [Q12797-3]
ENST00000445642; ENSP00000394013; ENSG00000198363 [Q12797-11]
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]
ENST00000541428; ENSP00000437864; ENSG00000198363 [Q12797-10]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		444

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:444

UCSC genome browser

More...UCSCi		uc003xuj.4, human [Q12797-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]
CCDS75746.1 [Q12797-11]
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5APAX-ray2.05A562-758[»]
5JQYX-ray1.99A330-758[»]
5JTCX-ray2.24A330-758[»]
5JZ6X-ray2.35A330-758[»]
5JZ8X-ray2.10A330-758[»]
5JZAX-ray2.14A330-758[»]
5JZUX-ray2.50A330-758[»]
6Q9FX-ray1.63A330-758[»]
6Q9IX-ray1.85A330-758[»]
6QA5X-ray2.65A330-758[»]
6RK9X-ray2.29A/B330-758[»]
SMRiQ12797
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106936, 208 interactors
IntActiQ12797, 136 interactors
MINTiQ12797
STRINGi9606.ENSP00000368767

Chemistry databases

DrugBankiDB00128, Aspartic acid
DB00139, Succinic acid
DrugCentraliQ12797

Protein family/group databases

TCDBi8.A.28.1.5, the ankyrin (ankyrin) family

PTM databases

GlyConnecti1018, 13 N-Linked glycans (1 site)
GlyGeniQ12797, 6 sites, 1 N-linked glycan (1 site), 3 O-linked glycans (3 sites)
iPTMnetiQ12797
PhosphoSitePlusiQ12797
SwissPalmiQ12797

Genetic variation databases

BioMutaiASPH
DMDMi145559444

Proteomic databases

EPDiQ12797
jPOSTiQ12797
MassIVEiQ12797
MaxQBiQ12797
PaxDbiQ12797
PeptideAtlasiQ12797
PRIDEiQ12797
ProteomicsDBi27096
4295
58944 [Q12797-1]
58945 [Q12797-2]
58946 [Q12797-3]
58947 [Q12797-4]
66767
7252
73953
80510
TopDownProteomicsiQ12797-1 [Q12797-1]
Q12797-2 [Q12797-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24707, 312 antibodies

The DNASU plasmid repository

More...DNASUi		444

Genome annotation databases

EnsembliENST00000356457; ENSP00000348841; ENSG00000198363 [Q12797-2]
ENST00000379449; ENSP00000368762; ENSG00000198363 [Q12797-7]
ENST00000379454; ENSP00000368767; ENSG00000198363 [Q12797-1]
ENST00000389204; ENSP00000373856; ENSG00000198363 [Q12797-3]
ENST00000445642; ENSP00000394013; ENSG00000198363 [Q12797-11]
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]
ENST00000541428; ENSP00000437864; ENSG00000198363 [Q12797-10]
GeneIDi444
KEGGihsa:444
UCSCiuc003xuj.4, human [Q12797-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		444
DisGeNETi444

GeneCards: human genes, protein and diseases

More...GeneCardsi		ASPH
HGNCiHGNC:757, ASPH
HPAiENSG00000198363, Low tissue specificity
MalaCardsiASPH
MIMi600582, gene
601552, phenotype
neXtProtiNX_Q12797
OpenTargetsiENSG00000198363
Orphaneti412022, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
PharmGKBiPA25056
VEuPathDBiHostDB:ENSG00000198363.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3696, Eukaryota
GeneTreeiENSGT00940000156304
HOGENOMiCLU_106984_0_0_1
InParanoidiQ12797
OMAiEDSYHIE
OrthoDBi1511606at2759
PhylomeDBiQ12797
TreeFamiTF312799

Enzyme and pathway databases

PathwayCommonsiQ12797
ReactomeiR-HSA-2672351, Stimuli-sensing channels
R-HSA-5578775, Ion homeostasis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		444, 6 hits in 993 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ASPH, human
EvolutionaryTraceiQ12797

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ASPH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		444
PharosiQ12797, Tbio

Protein Ontology

More...PROi		PR:Q12797
RNActiQ12797, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198363, Expressed in palpebral conjunctiva and 238 other tissues
ExpressionAtlasiQ12797, baseline and differential
GenevisibleiQ12797, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
2.60.120.330, 1 hit
InterProiView protein in InterPro
IPR007943, Asp-B-hydro/Triadin_dom
IPR007803, Asp/Arg/Pro-Hydrxlase
IPR039038, ASPH
IPR027443, IPNS-like
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PANTHERiPTHR12366, PTHR12366, 1 hit
PfamiView protein in Pfam
PF05279, Asp-B-Hydro_N, 1 hit
PF05118, Asp_Arg_Hydrox, 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASPH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12797
Secondary accession number(s): A0A0A0MSK8
, A6NDF4, A6NHI2, B4DIC9, B4E2K4, B7ZM95, E5RGP5, F5H667, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: April 7, 2021
This is version 206 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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