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Protein

Manganese-transporting ATPase 13A1

Gene

ATP13A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei5334-aspartylphosphate intermediateBy similarity1
Metal bindingi864MagnesiumBy similarity1
Metal bindingi868MagnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105726-MONOMER.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Protein family/group databases

TCDBi3.A.3.10.19. the p-type atpase (p-atpase) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Manganese-transporting ATPase 13A1 (EC:3.6.3.-)
Gene namesi
Name:ATP13A1
Synonyms:ATP13A, KIAA1825
ORF Names:CGI-152
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:24215. ATP13A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 66CytoplasmicSequence analysisAdd BLAST65
Transmembranei67 – 87HelicalSequence analysisAdd BLAST21
Topological domaini88 – 95ExtracellularSequence analysis8
Transmembranei96 – 116HelicalSequence analysisAdd BLAST21
Topological domaini117 – 243CytoplasmicSequence analysisAdd BLAST127
Transmembranei244 – 264HelicalSequence analysisAdd BLAST21
Topological domaini265 – 443ExtracellularSequence analysisAdd BLAST179
Transmembranei444 – 464HelicalSequence analysisAdd BLAST21
Topological domaini465 – 989CytoplasmicSequence analysisAdd BLAST525
Transmembranei990 – 1010HelicalSequence analysisAdd BLAST21
Topological domaini1011ExtracellularSequence analysis1
Transmembranei1012 – 1032HelicalSequence analysisAdd BLAST21
Topological domaini1033 – 1051CytoplasmicSequence analysisAdd BLAST19
Transmembranei1052 – 1072HelicalSequence analysisAdd BLAST21
Topological domaini1073 – 1096ExtracellularSequence analysisAdd BLAST24
Transmembranei1097 – 1117HelicalSequence analysisAdd BLAST21
Topological domaini1118 – 1132CytoplasmicSequence analysisAdd BLAST15
Transmembranei1133 – 1153HelicalSequence analysisAdd BLAST21
Topological domaini1154 – 1166ExtracellularSequence analysisAdd BLAST13
Transmembranei1167 – 1187HelicalSequence analysisAdd BLAST21
Topological domaini1188 – 1204CytoplasmicSequence analysisAdd BLAST17

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000105726.
PharmGKBiPA134988892.

Polymorphism and mutation databases

BioMutaiATP13A1.
DMDMi18202961.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000464212 – 1204Manganese-transporting ATPase 13A1Add BLAST1203

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Glycosylationi287N-linked (GlcNAc...)Sequence analysis1
Glycosylationi420N-linked (GlcNAc...)1 Publication1
Modified residuei899PhosphoserineCombined sources1
Modified residuei905PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9HD20.
MaxQBiQ9HD20.
PaxDbiQ9HD20.
PeptideAtlasiQ9HD20.
PRIDEiQ9HD20.

PTM databases

iPTMnetiQ9HD20.
PhosphoSitePlusiQ9HD20.

Expressioni

Gene expression databases

BgeeiENSG00000105726.
CleanExiHS_ATP13A1.
ExpressionAtlasiQ9HD20. baseline and differential.
GenevisibleiQ9HD20. HS.

Organism-specific databases

HPAiHPA031798.
HPA049717.

Interactioni

Protein-protein interaction databases

BioGridi121393. 10 interactors.
IntActiQ9HD20. 8 interactors.
STRINGi9606.ENSP00000349877.

Structurei

3D structure databases

ProteinModelPortaliQ9HD20.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi455 – 460Poly-Ala6
Compositional biasi892 – 897Poly-Arg6

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0209. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00550000075064.
HOGENOMiHOG000199432.
HOVERGENiHBG050602.
InParanoidiQ9HD20.
KOiK14950.
OMAiYLYSEAQ.
OrthoDBiEOG091G00UD.
PhylomeDBiQ9HD20.
TreeFamiTF300725.

Family and domain databases

Gene3Di2.70.150.10. 1 hit.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProiIPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006544. P-type_TPase_V.
IPR001757. P_typ_ATPase.
[Graphical view]
PANTHERiPTHR24093:SF82. PTHR24093:SF82. 3 hits.
PfamiPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01494. ATPase_P-type. 2 hits.
TIGR01657. P-ATPase-V. 1 hit.
PROSITEiPS00154. ATPASE_E1_E2. 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

Note: Experimental confirmation may be lacking for some isoforms.
Isoform A (identifier: Q9HD20-1) [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
MAAAAAVGNA VPCGARPCGV RPDGQPKPGP QPRALLAAGP ALIANGDELV
60 70 80 90 100
AAVWPYRRLA LLRRLTVLPF AGLLYPAWLG AAAAGCWGWG SSWVQIPEAA
110 120 130 140 150
LLVLATICLA HALTVLSGHW SVHAHCALTC TPEYDPSKAT FVKVVPTPNN
160 170 180 190 200
GSTELVALHR NEGEDGLEVL SFEFQKIKYS YDALEKKQFL PVAFPVGNAF
210 220 230 240 250
SYYQSNRGFQ EDSEIRAAEK KFGSNKAEMV VPDFSELFKE RATAPFFVFQ
260 270 280 290 300
VFCVGLWCLD EYWYYSVFTL SMLVAFEASL VQQQMRNMSE IRKMGNKPHM
310 320 330 340 350
IQVYRSRKWR PIASDEIVPG DIVSIGRSPQ ENLVPCDVLL LRGRCIVDEA
360 370 380 390 400
MLTGESVPQM KEPIEDLSPD RVLDLQADSR LHVIFGGTKV VQHIPPQKAT
410 420 430 440 450
TGLKPVDSGC VAYVLRTGFN TSQGKLLRTI LFGVKRVTAN NLETFIFILF
460 470 480 490 500
LLVFAIAAAA YVWIEGTKDP SRNRYKLFLE CTLILTSVVP PELPIELSLA
510 520 530 540 550
VNTSLIALAK LYMYCTEPFR IPFAGKVEVC CFDKTGTLTS DSLVVRGVAG
560 570 580 590 600
LRDGKEVTPV SSIPVETHRA LASCHSLMQL DDGTLVGDPL EKAMLTAVDW
610 620 630 640 650
TLTKDEKVFP RSIKTQGLKI HQRFHFASAL KRMSVLASYE KLGSTDLCYI
660 670 680 690 700
AAVKGAPETL HSMFSQCPPD YHHIHTEISR EGARVLALGY KELGHLTHQQ
710 720 730 740 750
AREVKREALE CSLKFVGFIV VSCPLKADSK AVIREIQNAS HRVVMITGDN
760 770 780 790 800
PLTACHVAQE LHFIEKAHTL ILQPPSEKGR QCEWRSIDGS IVLPLARGSP
810 820 830 840 850
KALALEYALC LTGDGLAHLQ ATDPQQLLRL IPHVQVFARV APKQKEFVIT
860 870 880 890 900
SLKELGYVTL MCGDGTNDVG ALKHADVGVA LLANAPERVV ERRRRPRDSP
910 920 930 940 950
TLSNSGIRAT SRTAKQRSGL PPSEEQPTSQ RDRLSQVLRD LEDESTPIVK
960 970 980 990 1000
LGDASIAAPF TSKLSSIQCI CHVIKQGRCT LVTTLQMFKI LALNALILAY
1010 1020 1030 1040 1050
SQSVLYLEGV KFSDFQATLQ GLLLAGCFLF ISRSKPLKTL SRERPLPNIF
1060 1070 1080 1090 1100
NLYTILTVML QFFVHFLSLV YLYREAQARS PEKQEQFVDL YKEFEPSLVN
1110 1120 1130 1140 1150
STVYIMAMAM QMATFAINYK GPPFMESLPE NKPLVWSLAV SLLAIIGLLL
1160 1170 1180 1190 1200
GSSPDFNSQF GLVDIPVEFK LVIAQVLLLD FCLALLADRV LQFFLGTPKL

KVPS
Length:1,204
Mass (Da):132,955
Last modified:October 18, 2001 - v2
Checksum:i9DE335C025FBBA89
GO
Isoform B (identifier: Q9HD20-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     119-132: HWSVHAHCALTCTP → MEKWEELNSHQPGE

Show »
Length:1,086
Mass (Da):121,110
Checksum:i0D0D62BF402E68D0
GO
Isoform C (identifier: Q9HD20-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-860: Missing.

Show »
Length:344
Mass (Da):38,207
Checksum:iE988B4A90EC2DE3D
GO

Sequence cautioni

The sequence AAH69211 differs from that shown. Reason: Frameshift at position 846.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti364I → T in BAD18759 (PubMed:14702039).Curated1
Sequence conflicti501V → D in BAD18759 (PubMed:14702039).Curated1
Sequence conflicti1150L → P in BAD18759 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0004331 – 860Missing in isoform C. 1 PublicationAdd BLAST860
Alternative sequenceiVSP_0004341 – 118Missing in isoform B. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_000435119 – 132HWSVH…LTCTP → MEKWEELNSHQPGE in isoform B. 1 PublicationAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF288687 mRNA. Translation: AAG01173.1.
AK026044 mRNA. Translation: BAB15334.1.
AK056420 mRNA. Translation: BAG51704.1.
AK095287 mRNA. Translation: BAG53019.1.
AK172778 mRNA. Translation: BAD18759.1.
AB058728 mRNA. Translation: BAB47454.1.
CH471106 Genomic DNA. Translation: EAW84849.1.
CH471106 Genomic DNA. Translation: EAW84850.1.
BC009302 mRNA. Translation: AAH09302.2.
BC069211 mRNA. Translation: AAH69211.1. Frameshift.
CCDSiCCDS32970.2. [Q9HD20-1]
RefSeqiNP_065143.2. NM_020410.2. [Q9HD20-1]
UniGeneiHs.501794.

Genome annotation databases

EnsembliENST00000291503; ENSP00000291503; ENSG00000105726. [Q9HD20-2]
ENST00000357324; ENSP00000349877; ENSG00000105726. [Q9HD20-1]
GeneIDi57130.
KEGGihsa:57130.
UCSCiuc002nng.4. human. [Q9HD20-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF288687 mRNA. Translation: AAG01173.1.
AK026044 mRNA. Translation: BAB15334.1.
AK056420 mRNA. Translation: BAG51704.1.
AK095287 mRNA. Translation: BAG53019.1.
AK172778 mRNA. Translation: BAD18759.1.
AB058728 mRNA. Translation: BAB47454.1.
CH471106 Genomic DNA. Translation: EAW84849.1.
CH471106 Genomic DNA. Translation: EAW84850.1.
BC009302 mRNA. Translation: AAH09302.2.
BC069211 mRNA. Translation: AAH69211.1. Frameshift.
CCDSiCCDS32970.2. [Q9HD20-1]
RefSeqiNP_065143.2. NM_020410.2. [Q9HD20-1]
UniGeneiHs.501794.

3D structure databases

ProteinModelPortaliQ9HD20.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121393. 10 interactors.
IntActiQ9HD20. 8 interactors.
STRINGi9606.ENSP00000349877.

Protein family/group databases

TCDBi3.A.3.10.19. the p-type atpase (p-atpase) superfamily.

PTM databases

iPTMnetiQ9HD20.
PhosphoSitePlusiQ9HD20.

Polymorphism and mutation databases

BioMutaiATP13A1.
DMDMi18202961.

Proteomic databases

EPDiQ9HD20.
MaxQBiQ9HD20.
PaxDbiQ9HD20.
PeptideAtlasiQ9HD20.
PRIDEiQ9HD20.

Protocols and materials databases

DNASUi57130.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291503; ENSP00000291503; ENSG00000105726. [Q9HD20-2]
ENST00000357324; ENSP00000349877; ENSG00000105726. [Q9HD20-1]
GeneIDi57130.
KEGGihsa:57130.
UCSCiuc002nng.4. human. [Q9HD20-1]

Organism-specific databases

CTDi57130.
GeneCardsiATP13A1.
HGNCiHGNC:24215. ATP13A1.
HPAiHPA031798.
HPA049717.
neXtProtiNX_Q9HD20.
OpenTargetsiENSG00000105726.
PharmGKBiPA134988892.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0209. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00550000075064.
HOGENOMiHOG000199432.
HOVERGENiHBG050602.
InParanoidiQ9HD20.
KOiK14950.
OMAiYLYSEAQ.
OrthoDBiEOG091G00UD.
PhylomeDBiQ9HD20.
TreeFamiTF300725.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105726-MONOMER.
ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiATP13A1. human.
GenomeRNAii57130.
PROiQ9HD20.

Gene expression databases

BgeeiENSG00000105726.
CleanExiHS_ATP13A1.
ExpressionAtlasiQ9HD20. baseline and differential.
GenevisibleiQ9HD20. HS.

Family and domain databases

Gene3Di2.70.150.10. 1 hit.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProiIPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006544. P-type_TPase_V.
IPR001757. P_typ_ATPase.
[Graphical view]
PANTHERiPTHR24093:SF82. PTHR24093:SF82. 3 hits.
PfamiPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01494. ATPase_P-type. 2 hits.
TIGR01657. P-ATPase-V. 1 hit.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT131_HUMAN
AccessioniPrimary (citable) accession number: Q9HD20
Secondary accession number(s): B3KPJ2
, B3KTA7, Q6NT90, Q6ZMG7, Q9H6C6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: October 18, 2001
Last modified: November 30, 2016
This is version 151 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Depletion of ATP13A1 with siRNAs leads to induction of the unfolded protein response (UPR) and increased activity of glucosylceramide synthase (GlcCer).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

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