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UniProtKB - P05186 (PPBT_HUMAN)

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Protein

Alkaline phosphatase, tissue-nonspecific isozyme

Gene

ALPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This isozyme may play a role in skeletal mineralization.

Catalytic activityi

A phosphate monoester + H2O = an alcohol + phosphate.PROSITE-ProRule annotation2 Publications

Cofactori

Protein has several cofactor binding sites:
  • Mg2+By similarityNote: Binds 1 Mg2+ ion.By similarity
  • Zn2+By similarityNote: Binds 2 Zn2+ ions.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi60MagnesiumBy similarity1
Metal bindingi60Zinc 1By similarity1
Active sitei110Phosphoserine intermediateBy similarity1
Metal bindingi110Zinc 1By similarity1
Metal bindingi173MagnesiumBy similarity1
Metal bindingi332MagnesiumBy similarity1
Metal bindingi337Zinc 2By similarity1
Metal bindingi341Zinc 2; via tele nitrogenBy similarity1
Metal bindingi378Zinc 1By similarity1
Metal bindingi379Zinc 1; via tele nitrogenBy similarity1
Metal bindingi454Zinc 2; via tele nitrogenBy similarity1

GO - Molecular functioni

  • alkaline phosphatase activity Source: UniProtKB-EC
  • metal ion binding Source: UniProtKB-KW
  • pyrophosphatase activity Source: MGI
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase
Biological processBiomineralization
LigandMagnesium, Metal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.1.3.1 2681
ReactomeiR-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
SABIO-RKiP05186
SIGNORiP05186

Names & Taxonomyi

Protein namesi
Recommended name:
Alkaline phosphatase, tissue-nonspecific isozyme (EC:3.1.3.12 Publications)
Short name:
AP-TNAP
Short name:
TNSALP
Alternative name(s):
Alkaline phosphatase liver/bone/kidney isozyme
Gene namesi
Name:ALPL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162551.13
HGNCiHGNC:438 ALPL
MIMi171760 gene
neXtProtiNX_P05186

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypophosphatasia (HOPS)29 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia).
See also OMIM:146300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02590317S → F in HOPS. 1 Publication1
Natural variantiVAR_00614733A → V in HOPS; 7.2% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs121918005EnsemblClinVar.1
Natural variantiVAR_01108140A → V in HOPS; 2% of activity. 5 PublicationsCorresponds to variant dbSNP:rs770093969Ensembl.1
Natural variantiVAR_02590451A → S in HOPS. 1 Publication1
Natural variantiVAR_01397351A → V in HOPS. 1 Publication1
Natural variantiVAR_00614862M → L in HOPS; moderate; 27% of activity. 2 Publications1
Natural variantiVAR_02590562M → V in HOPS. 1 Publication1
Natural variantiVAR_02590663G → R in HOPS. 1 Publication1
Natural variantiVAR_01397463G → V in HOPS; loss of activity. 1 Publication1
Natural variantiVAR_00614971R → C in HOPS; 35% of alkaline phosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918001EnsemblClinVar.1
Natural variantiVAR_01397571R → H in HOPS; loss of alkaline phosphatase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918003EnsemblClinVar.1
Natural variantiVAR_00615071R → P in HOPS. 1 PublicationCorresponds to variant dbSNP:rs121918003EnsemblClinVar.1
Natural variantiVAR_01397675G → S in HOPS; severe; 3.5% of activity. 2 Publications1
Natural variantiVAR_02590976Q → R in HOPS. Corresponds to variant dbSNP:rs1057521085Ensembl.1
Natural variantiVAR_025910108P → L in HOPS; 0.4% of alkaline phosphatase activity; severe allele; no effect on subcellular location; fails to assemble into dimeric structure; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs121918015EnsemblClinVar.1
Natural variantiVAR_006151111A → T in HOPS; odonto; 50% of alkaline phosphatase activity. 6 PublicationsCorresponds to variant dbSNP:rs773257111Ensembl.1
Natural variantiVAR_025911114A → G in HOPS. 1 Publication1
Natural variantiVAR_013977116A → T in HOPS; loss of alkaline phosphatase activity. 4 PublicationsCorresponds to variant dbSNP:rs121918013EnsemblClinVar.1
Natural variantiVAR_013978120G → R in HOPS. 2 PublicationsCorresponds to variant dbSNP:rs954135116Ensembl.1
Natural variantiVAR_025912128V → M in HOPS. 1 Publication1
Natural variantiVAR_013979129G → R in HOPS. 2 Publications1
Natural variantiVAR_013146132A → V in HOPS. 1 Publication1
Natural variantiVAR_025913134T → H in HOPS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs786204530EnsemblClinVar.1
Natural variantiVAR_011082134T → N in HOPS; 9% of activity. 1 PublicationCorresponds to variant dbSNP:rs780583917Ensembl.1
Natural variantiVAR_006152136R → H in HOPS; moderate; 33% of activity. 5 PublicationsCorresponds to variant dbSNP:rs121918011EnsemblClinVar.1
Natural variantiVAR_025914148T → I in HOPS. 1 Publication1
Natural variantiVAR_013980152R → H in HOPS. 2 PublicationsCorresponds to variant dbSNP:rs149344982EnsemblClinVar.1
Natural variantiVAR_025915162G → S in HOPS. 1 PublicationCorresponds to variant dbSNP:rs760029254Ensembl.1
Natural variantiVAR_006153162G → V in HOPS; severe; 1% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121918012EnsemblClinVar.1
Natural variantiVAR_013981170N → D in HOPS. 2 Publications1
Natural variantiVAR_025916171H → R in HOPS. Corresponds to variant dbSNP:rs778232217Ensembl.1
Natural variantiVAR_006154171H → Y in HOPS; severe; 2% of activity. 2 Publications1
Natural variantiVAR_011083176A → T in HOPS; 30% of alkaline phosphatase activity. 4 PublicationsCorresponds to variant dbSNP:rs121918019EnsemblClinVar.1
Natural variantiVAR_006156179A → T in HOPS. 2 PublicationsCorresponds to variant dbSNP:rs121918000EnsemblClinVar.1
Natural variantiVAR_013982181S → L in HOPS; 1% of activity. 1 PublicationCorresponds to variant dbSNP:rs199590449EnsemblClinVar.1
Natural variantiVAR_013983184R → W in HOPS; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs763159520EnsemblClinVar.1
Natural variantiVAR_025917189D → E in HOPS. 1 Publication1
Natural variantiVAR_006157191E → G in HOPS; odonto. 1 Publication1
Natural variantiVAR_006158191E → K in HOPS; moderate; frequent mutation in European countries; 56% of alkaline phosphatase activity. 8 PublicationsCorresponds to variant dbSNP:rs121918007EnsemblClinVar.1
Natural variantiVAR_006159201C → Y in HOPS; weak alkaline phosphatase activity; severely affects homodimerization; reduced cell surface expression. 3 Publications1
Natural variantiVAR_006160207Q → P in HOPS. 1 PublicationCorresponds to variant dbSNP:rs121918004EnsemblClinVar.1
Natural variantiVAR_013984211N → D in HOPS. 1 Publication1
Natural variantiVAR_025918212I → F in HOPS. 1
Natural variantiVAR_025919220G → A in HOPS. 1 Publication1
Natural variantiVAR_013985220G → V in HOPS; odonto. 1 Publication1
Natural variantiVAR_025920223R → Q in HOPS. 2 PublicationsCorresponds to variant dbSNP:rs199665722EnsemblClinVar.1
Natural variantiVAR_013987235E → G in HOPS. 1 Publication1
Natural variantiVAR_011085246R → S in HOPS; 4% of activity. 2 Publications1
Natural variantiVAR_013988249G → V in HOPS; partial loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs121918018EnsemblClinVar.1
Natural variantiVAR_025921272R → H in HOPS; 6.8% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs781272386EnsemblClinVar.1
Natural variantiVAR_025922272R → L in HOPS. 1 PublicationCorresponds to variant dbSNP:rs781272386EnsemblClinVar.1
Natural variantiVAR_006162289L → F in HOPS. 1 Publication1
Natural variantiVAR_013989291E → K in HOPS; moderate; 8% of activity. 3 PublicationsCorresponds to variant dbSNP:rs786204473EnsemblClinVar.1
Natural variantiVAR_025924292P → T in HOPS; 4% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs765458125Ensembl.1
Natural variantiVAR_025925293 – 294Missing in HOPS. 2
Natural variantiVAR_006163294D → A in HOPS. 3 PublicationsCorresponds to variant dbSNP:rs121918002EnsemblClinVar.1
Natural variantiVAR_013990294D → Y in HOPS. 1 Publication1
Natural variantiVAR_025926295M → T in HOPS; 8.5% of wild-type activity. 1 Publication1
Natural variantiVAR_025927297Y → D in HOPS; 1.3% of wild-type activity. 1 Publication1
Natural variantiVAR_025929299L → P in HOPS. 1 Publication1
Natural variantiVAR_006164306D → V in HOPS. 2 Publications1
Natural variantiVAR_025930311E → K in HOPS. 1 PublicationCorresponds to variant dbSNP:rs763457259Ensembl.1
Natural variantiVAR_013991326G → R in HOPS; in a patient carrying also K-291. 1 Publication1
Natural variantiVAR_013992327F → G in HOPS; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_025931327Missing in HOPS. 1 Publication1
Natural variantiVAR_006166334G → D in HOPS; loss of alkaline phosphatase activity. 5 PublicationsCorresponds to variant dbSNP:rs121918009EnsemblClinVar.1
Natural variantiVAR_075557334G → R in HOPS; weak alkaline phosphatase activity. 1 Publication1
Natural variantiVAR_025932339G → R in HOPS; loss of alkaline phosphatase activity. 2 Publications1
Natural variantiVAR_011086348A → T in HOPS. 2 Publications1
Natural variantiVAR_025933354E → D in HOPS. 1
Natural variantiVAR_006167378D → V in HOPS; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs121918008EnsemblClinVar.1
Natural variantiVAR_011087381H → R in HOPS. 1 Publication1
Natural variantiVAR_006168382V → I in HOPS; loss of alkaline phosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs771540767EnsemblClinVar.1
Natural variantiVAR_013993391R → C in HOPS; moderate; 4-10% of alkaline phosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs371243939Ensembl.1
Natural variantiVAR_013994399A → S in HOPS. 1 Publication1
Natural variantiVAR_011088406D → G in HOPS; 15% of activity. 1 Publication1
Natural variantiVAR_025935411T → A in HOPS; absence of residual enzymatic activity. 1 Publication1
Natural variantiVAR_025936414L → M in HOPS; loss of alkaline phosphatase activity. 3 Publications1
Natural variantiVAR_025937417N → S in HOPS; very low alkaline phosphatase activity; does not affect subcellular location; fails to assemble into dimeric structure. 2 PublicationsCorresponds to variant dbSNP:rs121918014EnsemblClinVar.1
Natural variantiVAR_075558420G → A in HOPS; very low alkaline phosphatase activity; does not affect subcellular location. 2 Publications1
Natural variantiVAR_075559420G → S in HOPS; very low alkaline phosphatase activity; does not affect subcellular location. 1 Publication1
Natural variantiVAR_013995423V → A in HOPS; 16% alkaline of phosphatase activity. 2 Publications1
Natural variantiVAR_025938426G → D in HOPS. 1 Publication1
Natural variantiVAR_006169436Y → H in HOPS. 1 PublicationCorresponds to variant dbSNP:rs121918006EnsemblClinVar.1
Natural variantiVAR_013996445S → P in HOPS; severe; 2% of activity. 2 Publications1
Natural variantiVAR_013997450R → C in HOPS; severe; 4% of activity. 2 PublicationsCorresponds to variant dbSNP:rs138690664Ensembl.1
Natural variantiVAR_011090450R → H in HOPS. 1 PublicationCorresponds to variant dbSNP:rs150799088EnsemblClinVar.1
Natural variantiVAR_025939452E → K in HOPS; loss of alkaline phosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs966212736Ensembl.1
Natural variantiVAR_075560459V → L in HOPS; loss of alkaline phosphatase activity. 1 Publication1
Natural variantiVAR_025940468A → T in HOPS. 1 Publication1
Natural variantiVAR_013999473G → S in HOPS. 2 Publications1
Natural variantiVAR_075561476E → A in HOPS; loss of alkaline phosphatase activity. 1 Publication1
Natural variantiVAR_006170476E → K in HOPS. 3 Publications1
Natural variantiVAR_011092478N → I in HOPS; 9% of activity. 2 Publications1
Natural variantiVAR_011093489C → S in HOPS; reduces alkaline phosphatase activity. 2 Publications1
Natural variantiVAR_014000490I → F in HOPS; odonto; partial loss of activity. 1 Publication1
Natural variantiVAR_014001491G → R in HOPS. 2 Publications1
Hypophosphatasia childhood type (HOPSC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.
See also OMIM:241510
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02590768T → M in HOPSC; severe allele. 1 Publication1
Natural variantiVAR_02590871R → S in HOPSC; severe allele. 1 PublicationCorresponds to variant dbSNP:rs121918001EnsemblClinVar.1
Natural variantiVAR_025923275L → P in HOPSC; severe allele. 1 Publication1
Hypophosphatasia infantile type (HOPSI)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.
See also OMIM:241500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01397228Y → C in HOPSI; 7% of activity. 1 Publication1
Natural variantiVAR_011084224K → E in HOPSI; partial loss of activity. 1 Publication1
Natural variantiVAR_025928298E → K in HOPSI. 1 PublicationCorresponds to variant dbSNP:rs121918017EnsemblClinVar.1
Natural variantiVAR_011089426G → C in HOPSI; partial loss of activity. 1 Publication1
Natural variantiVAR_011091456G → R in HOPSI; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121918016EnsemblClinVar.1
Natural variantiVAR_013998459V → M in HOPSI. 1 PublicationCorresponds to variant dbSNP:rs1054159992Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi249
GeneReviewsiALPL
MalaCardsiALPL
MIMi146300 phenotype
241500 phenotype
241510 phenotype
OpenTargetsiENSG00000162551
Orphaneti247676 Adult hypophosphatasia
247667 Childhood-onset hypophosphatasia
247651 Infantile hypophosphatasia
247685 Odontohypophosphatasia
247623 Perinatal lethal hypophosphatasia
247638 Prenatal benign hypophosphatasia
PharmGKBiPA24729

Chemistry databases

ChEMBLiCHEMBL5979
DrugBankiDB01143 Amifostine
DB06716 Fospropofol

Polymorphism and mutation databases

BioMutaiALPL
DMDMi68067533

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 172 PublicationsAdd BLAST17
ChainiPRO_000002402318 – 501Alkaline phosphatase, tissue-nonspecific isozymeAdd BLAST484
PropeptideiPRO_0000024024502 – 524Removed in mature formCuratedAdd BLAST23

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphoserineBy similarity1
Disulfide bondi139 ↔ 201By similarity
Glycosylationi140N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi230N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi271N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi303N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi430N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi489 ↔ 497By similarity
Lipidationi501GPI-anchor amidated serineSequence analysis1

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein, Phosphoprotein

Proteomic databases

EPDiP05186
MaxQBiP05186
PaxDbiP05186
PeptideAtlasiP05186
PRIDEiP05186
ProteomicsDBi51821
51822 [P05186-2]

PTM databases

DEPODiP05186
iPTMnetiP05186
PhosphoSitePlusiP05186

Expressioni

Gene expression databases

BgeeiENSG00000162551
ExpressionAtlasiP05186 baseline and differential
GenevisibleiP05186 HS

Organism-specific databases

HPAiCAB020829
HPA007105
HPA008765

Interactioni

Subunit structurei

Homodimer.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MAP3K14Q995584EBI-1054354,EBI-358011

Protein-protein interaction databases

BioGridi106750, 7 interactors
IntActiP05186, 5 interactors
MINTiP05186
STRINGi9606.ENSP00000363965

Chemistry databases

BindingDBiP05186

Structurei

3D structure databases

ProteinModelPortaliP05186
SMRiP05186
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the alkaline phosphatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG4126 Eukaryota
COG1785 LUCA
GeneTreeiENSGT00390000008704
HOVERGENiHBG007345
InParanoidiP05186
KOiK01077
OMAiEHTGTQL
OrthoDBiEOG091G067H
PhylomeDBiP05186
TreeFamiTF323513

Family and domain databases

CDDicd16012 ALP, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017849 Alkaline_Pase-like_a/b/a
IPR001952 Alkaline_phosphatase
IPR018299 Alkaline_phosphatase_AS
IPR017850 Alkaline_phosphatase_core_sf
PANTHERiPTHR11596 PTHR11596, 1 hit
PfamiView protein in Pfam
PF00245 Alk_phosphatase, 1 hit
PRINTSiPR00113 ALKPHPHTASE
SMARTiView protein in SMART
SM00098 alkPPc, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit
PROSITEiView protein in PROSITE
PS00123 ALKALINE_PHOSPHATASE, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P05186-1) [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
MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV 
        60         70         80         90        100
AKNVIMFLGD GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT 
       110        120        130        140        150
YNTNAQVPDS AGTATAYLCG VKANEGTVGV SAATERSRCN TTQGNEVTSI 
       160        170        180        190        200
LRWAKDAGKS VGIVTTTRVN HATPSAAYAH SADRDWYSDN EMPPEALSQG 
       210        220        230        240        250
CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE KARGTRLDGL 
       260        270        280        290        300
DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN 
       310        320        330        340        350
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH 
       360        370        380        390        400
EAVEMDRAIG QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP 
       410        420        430        440        450
MLSDTDKKPF TAILYGNGPG YKVVGGEREN VSMVDYAHNN YQAQSAVPLR 
       460        470        480        490        500
HETHGGEDVA VFSKGPMAHL LHGVHEQNYV PHVMAYAACI GANLGHCAPA 
       510        520 
SSAGSLAAGP LLLALALYPL SVLF
Length:524
Mass (Da):57,305
Last modified:June 21, 2005 - v4
Checksum:i71B45F17F6211900
GO
Isoform 2 (identifier: P05186-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: MISPFLVLAI...DKFPFVALSK → MPWSFRSSTPTWLRMSSCSWEM

Note: No experimental confirmation available.
Show »
Length:447
Mass (Da):48,909
Checksum:i4433599B70DBDB88
GO
Isoform 3 (identifier: P05186-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: Missing.

Show »
Length:469
Mass (Da):51,045
Checksum:iD57207402F616985
GO

Sequence cautioni

The sequence BAD93051 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29W → A AA sequence (PubMed:3954357).Curated1
Sequence conflicti104N → K in CAA32376 (PubMed:2928120).Curated1
Sequence conflicti361Q → H in BAA32129 (PubMed:3532105).Curated1
Sequence conflicti446A → P in BAA32129 (PubMed:3532105).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02590317S → F in HOPS. 1 Publication1
Natural variantiVAR_01397228Y → C in HOPSI; 7% of activity. 1 Publication1
Natural variantiVAR_00614733A → V in HOPS; 7.2% of wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs121918005EnsemblClinVar.1
Natural variantiVAR_01108140A → V in HOPS; 2% of activity. 5 PublicationsCorresponds to variant dbSNP:rs770093969Ensembl.1
Natural variantiVAR_02590451A → S in HOPS. 1 Publication1
Natural variantiVAR_01397351A → V in HOPS. 1 Publication1
Natural variantiVAR_00614862M → L in HOPS; moderate; 27% of activity. 2 Publications1
Natural variantiVAR_02590562M → V in HOPS. 1 Publication1
Natural variantiVAR_02590663G → R in HOPS. 1 Publication1
Natural variantiVAR_01397463G → V in HOPS; loss of activity. 1 Publication1
Natural variantiVAR_02590768T → M in HOPSC; severe allele. 1 Publication1
Natural variantiVAR_00614971R → C in HOPS; 35% of alkaline phosphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs121918001EnsemblClinVar.1
Natural variantiVAR_01397571R → H in HOPS; loss of alkaline phosphatase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918003EnsemblClinVar.1
Natural variantiVAR_00615071R → P in HOPS. 1 PublicationCorresponds to variant dbSNP:rs121918003EnsemblClinVar.1
Natural variantiVAR_02590871R → S in HOPSC; severe allele. 1 PublicationCorresponds to variant dbSNP:rs121918001EnsemblClinVar.1
Natural variantiVAR_01397675G → S in HOPS; severe; 3.5% of activity. 2 Publications1
Natural variantiVAR_02590976Q → R in HOPS. Corresponds to variant dbSNP:rs1057521085Ensembl.1
Natural variantiVAR_025910108P → L in HOPS; 0.4% of alkaline phosphatase activity; severe allele; no effect on subcellular location; fails to assemble into dimeric structure; dominant negative effect. 2 PublicationsCorresponds to variant dbSNP:rs121918015EnsemblClinVar.1
Natural variantiVAR_006151111A → T in HOPS; odonto; 50% of alkaline phosphatase activity. 6 PublicationsCorresponds to variant dbSNP:rs773257111Ensembl.1
Natural variantiVAR_025911114A → G in HOPS. 1 Publication1
Natural variantiVAR_013977116A → T in HOPS; loss of alkaline phosphatase activity. 4 PublicationsCorresponds to variant dbSNP:rs121918013EnsemblClinVar.1
Natural variantiVAR_013978120G → R in HOPS. 2 PublicationsCorresponds to variant dbSNP:rs954135116Ensembl.1
Natural variantiVAR_025912128V → M in HOPS. 1 Publication1
Natural variantiVAR_013979129G → R in HOPS. 2 Publications1
Natural variantiVAR_013146132A → V in HOPS. 1 Publication1
Natural variantiVAR_025913134T → H in HOPS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs786204530EnsemblClinVar.1
Natural variantiVAR_011082134T → N in HOPS; 9% of activity. 1 PublicationCorresponds to variant dbSNP:rs780583917Ensembl.1
Natural variantiVAR_006152136R → H in HOPS; moderate; 33% of activity. 5 PublicationsCorresponds to variant dbSNP:rs121918011EnsemblClinVar.1
Natural variantiVAR_025914148T → I in HOPS. 1 Publication1
Natural variantiVAR_013980152R → H in HOPS. 2 PublicationsCorresponds to variant dbSNP:rs149344982EnsemblClinVar.1
Natural variantiVAR_025915162G → S in HOPS. 1 PublicationCorresponds to variant dbSNP:rs760029254Ensembl.1
Natural variantiVAR_006153162G → V in HOPS; severe; 1% of activity. 2 PublicationsCorresponds to variant dbSNP:rs121918012EnsemblClinVar.1
Natural variantiVAR_013981170N → D in HOPS. 2 Publications1
Natural variantiVAR_025916171H → R in HOPS. Corresponds to variant dbSNP:rs778232217Ensembl.1
Natural variantiVAR_006154171H → Y in HOPS; severe; 2% of activity. 2 Publications1
Natural variantiVAR_011083176A → T in HOPS; 30% of alkaline phosphatase activity. 4 Publications