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Protein

Alkaline phosphatase, tissue-nonspecific isozyme

Gene

ALPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Biomineralization

Keywords - Ligandi

Magnesium, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS08691-MONOMER.
BRENDAi3.1.3.1. 2681.
SABIO-RKP05186.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:438. ALPL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypophosphatasia (HOPS)28 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_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 rs121918005dbSNPEnsembl.1
Natural variantiVAR_01108140A → V in HOPS; 2% of activity. 5 PublicationsCorresponds to variant rs770093969dbSNPEnsembl.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 rs121918001dbSNPEnsembl.1
Natural variantiVAR_01397571R → H in HOPS; loss of alkaline phosphatase activity. 3 Publications1
Natural variantiVAR_00615071R → P in HOPS. 1 PublicationCorresponds to variant rs121918003dbSNPEnsembl.1
Natural variantiVAR_02590871R → S in HOPSC; severe allele. 1 PublicationCorresponds to variant rs121918001dbSNPEnsembl.1
Natural variantiVAR_01397675G → S in HOPS; severe; 3.5% of activity. 2 Publications1
Natural variantiVAR_02590976Q → R in HOPS. 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 rs28933975dbSNPEnsembl.1
Natural variantiVAR_006151111A → T in HOPS; odonto; 50% of alkaline phosphatase activity. 6 PublicationsCorresponds to variant rs773257111dbSNPEnsembl.1
Natural variantiVAR_025911114A → G in HOPS. 1 Publication1
Natural variantiVAR_013977116A → T in HOPS; loss of alkaline phosphatase activity. 4 PublicationsCorresponds to variant rs28933974dbSNPEnsembl.1
Natural variantiVAR_013978120G → R in HOPS. 2 Publications1
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 rs786204530dbSNPEnsembl.1
Natural variantiVAR_011082134T → N in HOPS; 9% of activity. 1 PublicationCorresponds to variant rs780583917dbSNPEnsembl.1
Natural variantiVAR_006152136R → H in HOPS; moderate; 33% of activity. 5 PublicationsCorresponds to variant rs121918011dbSNPEnsembl.1
Natural variantiVAR_025914148T → I in HOPS. 1 Publication1
Natural variantiVAR_013980152R → H in HOPS. 2 PublicationsCorresponds to variant rs149344982dbSNPEnsembl.1
Natural variantiVAR_025915162G → S in HOPS. 1 PublicationCorresponds to variant rs760029254dbSNPEnsembl.1
Natural variantiVAR_006153162G → V in HOPS; severe; 1% of activity. 2 PublicationsCorresponds to variant rs121918012dbSNPEnsembl.1
Natural variantiVAR_013981170N → D in HOPS. 2 Publications1
Natural variantiVAR_025916171H → R in HOPS. Corresponds to variant rs778232217dbSNPEnsembl.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 rs121918019dbSNPEnsembl.1
Natural variantiVAR_006155177A → T in HOPS and HOPSC; moderate allele. 2 PublicationsCorresponds to variant rs199669988dbSNPEnsembl.1
Natural variantiVAR_006156179A → T in HOPS. 2 PublicationsCorresponds to variant rs121918000dbSNPEnsembl.1
Natural variantiVAR_013982181S → L in HOPS; 1% of activity. 1 PublicationCorresponds to variant rs199590449dbSNPEnsembl.1
Natural variantiVAR_013983184R → W in HOPS; loss of activity. 3 PublicationsCorresponds to variant rs763159520dbSNPEnsembl.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 rs121918007dbSNPEnsembl.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 rs121918004dbSNPEnsembl.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 rs199665722dbSNPEnsembl.1
Natural variantiVAR_013986223R → W in HOPS and HOPSC; 3% of activity; severe allele. 6 PublicationsCorresponds to variant rs766076920dbSNPEnsembl.1
Natural variantiVAR_011084224K → E in HOPSI; partial loss of activity. 1 Publication1
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 rs121918018dbSNPEnsembl.1
Natural variantiVAR_025921272R → H in HOPS; 6.8% of wild-type activity. 1 PublicationCorresponds to variant rs781272386dbSNPEnsembl.1
Natural variantiVAR_025922272R → L in HOPS. 1 PublicationCorresponds to variant rs781272386dbSNPEnsembl.1
Natural variantiVAR_025923275L → P in HOPSC; severe allele. 1 Publication1
Natural variantiVAR_006162289L → F in HOPS. 1 Publication1
Natural variantiVAR_013989291E → K in HOPS; moderate; 8% of activity. 3 PublicationsCorresponds to variant rs786204473dbSNPEnsembl.1
Natural variantiVAR_025924292P → T in HOPS; 4% of wild-type activity. 1 PublicationCorresponds to variant rs765458125dbSNPEnsembl.1
Natural variantiVAR_025925293 – 294Missing in HOPS. 2
Natural variantiVAR_006163294D → A in HOPS. 3 PublicationsCorresponds to variant rs121918002dbSNPEnsembl.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_025928298E → K in HOPSI. 1 PublicationCorresponds to variant rs121918017dbSNPEnsembl.1
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 rs763457259dbSNPEnsembl.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_006165327F → L in HOPS and HOPSI. 2 PublicationsCorresponds to variant rs121918010dbSNPEnsembl.1
Natural variantiVAR_025931327Missing in HOPS. 1 Publication1
Natural variantiVAR_006166334G → D in HOPS; loss of alkaline phosphatase activity. 5 PublicationsCorresponds to variant rs121918009dbSNPEnsembl.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 rs121918008dbSNPEnsembl.1
Natural variantiVAR_011087381H → R in HOPS. 1 Publication1
Natural variantiVAR_006168382V → I in HOPS; loss of alkaline phosphatase activity. 2 PublicationsCorresponds to variant rs771540767dbSNPEnsembl.1
Natural variantiVAR_013993391R → C in HOPS; moderate; 4-10% of alkaline phosphatase activity. 2 PublicationsCorresponds to variant rs371243939dbSNPEnsembl.1
Natural variantiVAR_025934391R → H in HOPSC and HOPS; severe allele; loss of alkaline phosphatase activity. 2 Publications1
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 rs121918014dbSNPEnsembl.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_011089426G → C in HOPSI; partial loss of activity. 1 Publication1
Natural variantiVAR_025938426G → D in HOPS. 1 Publication1
Natural variantiVAR_006169436Y → H in HOPS. 1 PublicationCorresponds to variant rs121918006dbSNPEnsembl.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 rs138690664dbSNPEnsembl.1
Natural variantiVAR_011090450R → H in HOPS. 1 PublicationCorresponds to variant rs150799088dbSNPEnsembl.1
Natural variantiVAR_025939452E → K in HOPS; loss of alkaline phosphatase activity. 2 Publications1
Natural variantiVAR_011091456G → R in HOPSI; loss of activity. 1 PublicationCorresponds to variant rs121918016dbSNPEnsembl.1
Natural variantiVAR_075560459V → L in HOPS; loss of alkaline phosphatase activity. 1 Publication1
Natural variantiVAR_013998459V → M in HOPSI. 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 rs121918001dbSNPEnsembl.1
Natural variantiVAR_006155177A → T in HOPS and HOPSC; moderate allele. 2 PublicationsCorresponds to variant rs199669988dbSNPEnsembl.1
Natural variantiVAR_013986223R → W in HOPS and HOPSC; 3% of activity; severe allele. 6 PublicationsCorresponds to variant rs766076920dbSNPEnsembl.1
Natural variantiVAR_025923275L → P in HOPSC; severe allele. 1 Publication1
Natural variantiVAR_025934391R → H in HOPSC and HOPS; severe allele; loss of alkaline phosphatase activity. 2 Publications1
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 rs121918017dbSNPEnsembl.1
Natural variantiVAR_006165327F → L in HOPS and HOPSI. 2 PublicationsCorresponds to variant rs121918010dbSNPEnsembl.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 rs121918016dbSNPEnsembl.1
Natural variantiVAR_013998459V → M in HOPSI. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi249.
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 – 502Alkaline phosphatase, tissue-nonspecific isozymeAdd BLAST485
PropeptideiPRO_0000024024503 – 524Removed in mature formCuratedAdd BLAST22

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphoserineBy similarity1
Disulfide bondi139 ↔ 201By similarity
Glycosylationi140N-linked (GlcNAc...)Sequence analysis1
Glycosylationi230N-linked (GlcNAc...)Sequence analysis1
Glycosylationi271N-linked (GlcNAc...)Sequence analysis1
Glycosylationi303N-linked (GlcNAc...)Sequence analysis1
Glycosylationi430N-linked (GlcNAc...)1 Publication1
Disulfide bondi489 ↔ 497By similarity
Lipidationi502GPI-anchor amidated serineCurated1

Post-translational modificationi

N-glycosylated.2 Publications

Keywords - PTMi

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

Proteomic databases

EPDiP05186.
MaxQBiP05186.
PaxDbiP05186.
PeptideAtlasiP05186.
PRIDEiP05186.

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. 5 interactors.
IntActiP05186. 6 interactors.
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, Transmembrane

Phylogenomic databases

eggNOGiKOG4126. Eukaryota.
COG1785. LUCA.
GeneTreeiENSGT00390000008704.
HOVERGENiHBG007345.
InParanoidiP05186.
KOiK01077.
OMAiYTYVTTG.
OrthoDBiEOG091G067H.
PhylomeDBiP05186.
TreeFamiTF323513.

Family and domain databases

CDDicd00016. alkPPc. 1 hit.
Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR001952. Alkaline_phosphatase.
IPR018299. Alkaline_phosphatase_AS.
IPR017850. Alkaline_phosphatase_core.
[Graphical view]
PfamiPF00245. Alk_phosphatase. 1 hit.
[Graphical view]
PRINTSiPR00113. ALKPHPHTASE.
SMARTiSM00098. alkPPc. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
PROSITEiPS00123. ALKALINE_PHOSPHATASE. 1 hit.
[Graphical view]

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 rs121918005dbSNPEnsembl.1
Natural variantiVAR_01108140A → V in HOPS; 2% of activity. 5 PublicationsCorresponds to variant rs770093969dbSNPEnsembl.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 rs121918001dbSNPEnsembl.1
Natural variantiVAR_01397571R → H in HOPS; loss of alkaline phosphatase activity. 3 Publications1
Natural variantiVAR_00615071R → P in HOPS. 1 PublicationCorresponds to variant rs121918003dbSNPEnsembl.1
Natural variantiVAR_02590871R → S in HOPSC; severe allele. 1 PublicationCorresponds to variant rs121918001dbSNPEnsembl.1
Natural variantiVAR_01397675G → S in HOPS; severe; 3.5% of activity. 2 Publications1
Natural variantiVAR_02590976Q → R in HOPS. 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 rs28933975dbSNPEnsembl.1
Natural variantiVAR_006151111A → T in HOPS; odonto; 50% of alkaline phosphatase activity. 6 PublicationsCorresponds to variant rs773257111dbSNPEnsembl.1
Natural variantiVAR_025911114A → G in HOPS. 1 Publication1
Natural variantiVAR_013977116A → T in HOPS; loss of alkaline phosphatase activity. 4 PublicationsCorresponds to variant rs28933974dbSNPEnsembl.1
Natural variantiVAR_013978120G → R in HOPS. 2 Publications1
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 rs786204530dbSNPEnsembl.1
Natural variantiVAR_011082134T → N in HOPS; 9% of activity. 1 PublicationCorresponds to variant rs780583917dbSNPEnsembl.1
Natural variantiVAR_006152136R → H in HOPS; moderate; 33% of activity. 5 PublicationsCorresponds to variant rs121918011dbSNPEnsembl.1
Natural variantiVAR_025914148T → I in HOPS. 1 Publication1
Natural variantiVAR_013980152R → H in HOPS. 2 PublicationsCorresponds to variant rs149344982dbSNPEnsembl.1
Natural variantiVAR_025915162G → S in HOPS. 1 PublicationCorresponds to variant rs760029254dbSNPEnsembl.1
Natural variantiVAR_006153162G → V in HOPS; severe; 1% of activity. 2 PublicationsCorresponds to variant rs121918012dbSNPEnsembl.1
Natural variantiVAR_013981170N → D in HOPS. 2 Publications1
Natural variantiVAR_025916171H → R in HOPS. Corresponds to variant rs778232217dbSNPEnsembl.1
Natural variantiVAR_006154171H → Y in HOPS; severe; 2% of activity. 2 Publications