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Protein

Probable cation-transporting ATPase 13A4

Gene

ATP13A4

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

Functioni

Catalytic activityi

ATP + H2O = ADP + phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei4864-aspartylphosphate intermediateBy similarity1
Metal bindingi848MagnesiumBy similarity1
Metal bindingi852MagnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable cation-transporting ATPase 13A4 (EC:3.6.3.-)
Alternative name(s):
P5-ATPase isoform 4
Gene namesi
Name:ATP13A4
ORF Names:UNQ3052/PRO9871
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25422. ATP13A4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 31CytoplasmicSequence analysisAdd BLAST31
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Topological domaini53 – 197ExtracellularSequence analysisAdd BLAST145
Transmembranei198 – 218HelicalSequence analysisAdd BLAST21
Topological domaini219 – 223CytoplasmicSequence analysis5
Transmembranei224 – 244HelicalSequence analysisAdd BLAST21
Topological domaini245 – 400ExtracellularSequence analysisAdd BLAST156
Transmembranei401 – 421HelicalSequence analysisAdd BLAST21
Topological domaini422 – 436CytoplasmicSequence analysisAdd BLAST15
Transmembranei437 – 457HelicalSequence analysisAdd BLAST21
Topological domaini458 – 900ExtracellularSequence analysisAdd BLAST443
Transmembranei901 – 921HelicalSequence analysisAdd BLAST21
Topological domaini922 – 932CytoplasmicSequence analysisAdd BLAST11
Transmembranei933 – 953HelicalSequence analysisAdd BLAST21
Topological domaini954 – 972ExtracellularSequence analysisAdd BLAST19
Transmembranei973 – 993HelicalSequence analysisAdd BLAST21
Topological domaini994 – 1035CytoplasmicSequence analysisAdd BLAST42
Transmembranei1036 – 1056HelicalSequence analysisAdd BLAST21
Topological domaini1057 – 1070ExtracellularSequence analysisAdd BLAST14
Transmembranei1071 – 1091HelicalSequence analysisAdd BLAST21
Topological domaini1092 – 1109CytoplasmicSequence analysisAdd BLAST18
Transmembranei1110 – 1130HelicalSequence analysisAdd BLAST21
Topological domaini1131 – 1196ExtracellularSequence analysisAdd BLAST66

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv(3)(q25;q29). The inversion produces a disruption of the protein.

Organism-specific databases

DisGeNETi84239.
OpenTargetsiENSG00000127249.
PharmGKBiPA134979581.

Polymorphism and mutation databases

BioMutaiATP13A4.
DMDMi296439435.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003186751 – 1196Probable cation-transporting ATPase 13A4Add BLAST1196

Proteomic databases

PaxDbiQ4VNC1.
PeptideAtlasiQ4VNC1.
PRIDEiQ4VNC1.

PTM databases

iPTMnetiQ4VNC1.
PhosphoSitePlusiQ4VNC1.

Expressioni

Tissue specificityi

Expressed in heart, placenta, liver, skeletal muscles, and pancreas. Lower levels of expression are also detected in brain, lung and kidney. Weakly expressed in the adult brain. Expression in fetal brain is higher than in adult brain, with levels similar to several other fetal tissues including spleen and skeletal muscle. In adult brain expressed at low levels in all tissues examined, including the temporal lobe and putamen.1 Publication

Inductioni

Decreased by half in the SLI patient lymphoblasts.1 Publication

Gene expression databases

BgeeiENSG00000127249.
CleanExiHS_ATP13A4.
ExpressionAtlasiQ4VNC1. baseline and differential.
GenevisibleiQ4VNC1. HS.

Organism-specific databases

HPAiHPA051932.

Interactioni

Protein-protein interaction databases

IntActiQ4VNC1. 1 interactor.
STRINGi9606.ENSP00000339182.

Structurei

3D structure databases

ProteinModelPortaliQ4VNC1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0208. Eukaryota.
ENOG410XRCA. LUCA.
GeneTreeiENSGT00530000063001.
HOGENOMiHOG000171813.
HOVERGENiHBG065757.
InParanoidiQ4VNC1.
KOiK14951.
OMAiGALEDHH.
OrthoDBiEOG091G01IL.
PhylomeDBiQ4VNC1.
TreeFamiTF300331.

Family and domain databases

Gene3Di2.70.150.10. 1 hit.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProiIPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. 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]
PfamiPF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
PF12409. P5-ATPase. 1 hit.
[Graphical view]
SMARTiSM00831. Cation_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01494. ATPase_P-type. 3 hits.
TIGR01657. P-ATPase-V. 1 hit.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4VNC1-1) [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
MGHFEKGQHA LLNEGEENEM EIFGYRTQGC RKSLCLAGSI FSFGILPLVF
60 70 80 90 100
YWRPAWHVWA HCVPCSLQEA DTVLLRTTDE FQIYSWKKVI WIYLSALNSA
110 120 130 140 150
FGLTPDHPLM TDEEYIINRA IRKPDLKVRC IKVQKIRYVW NYLEGQFQKI
160 170 180 190 200
GSLEDWLSSA KIHQKFGSGL TREEQEIRRL ICGPNTIDVE VTPIWKLLIK
210 220 230 240 250
EVLNPFYIFQ LFSVCLWFSE DYKEYAFAII IMSIISISLT VYDLREQSVK
260 270 280 290 300
LHHLVESHNS ITVSVCGRKA GVQELESRVL VPGDLLILTG NKVLMPCDAV
310 320 330 340 350
LIEGSCVVDE GMLTGESIPV TKTPLPKMDS SVPWKTQSEA DYKRHVLFCG
360 370 380 390 400
TEVIQAKAAC SGTVRAVVLQ TGFNTAKGDL VRSILYPKPV NFQLYRDAIR
410 420 430 440 450
FLLCLVGTAT IGMIYTLCVY VLSGEPPEEV VRKALDVITI AVPPALPAAL
460 470 480 490 500
TTGIIYAQRR LKKRGIFCIS PQRINVCGQL NLVCFDKTGT LTRDGLDLWG
510 520 530 540 550
VVSCDRNGFQ EVHSFASGQA LPWGPLCAAM ASCHSLILLD GTIQGDPLDL
560 570 580 590 600
KMFEATTWEM AFSGDDFHIK GVPAHAMVVK PCRTASQVPV EGIAILHQFP
610 620 630 640 650
FSSALQRMTV IVQEMGGDRL AFMKGAPERV ASFCQPETVP TSFVSELQIY
660 670 680 690 700
TTQGFRVIAL AYKKLENDHH ATTLTRETVE SDLIFLGLLI LENRLKEETK
710 720 730 740 750
PVLEELISAR IRTVMITGDN LQTAITVARK SGMVSESQKV ILIEANETTG
760 770 780 790 800
SSSASISWTL VEEKKHIMYG NQDNYINIRD EVSDKGREGS YHFALTGKSF
810 820 830 840 850
HVISQHFSSL LPKILINGTI FARMSPGQKS SLVEEFQKLD YFVGMCGDGA
860 870 880 890 900
NDCGALKMAH VGISLSEQEA SVASPFTSKT PNIECVPHLI KEGRAALVTS
910 920 930 940 950
FCMFKYMALY SMIQYVGVLL LYWETNSLSN YQFLFQDLAI TTLIGVTMNL
960 970 980 990 1000
NGAYPKLVPF RPAGRLISPP LLLSVIFNIL LSLAMHIAGF ILVQRQPWYS
1010 1020 1030 1040 1050
VEIHSACTVQ NESISELTMS PTAPEKMESN STFTSFENTT VWFLGTINCI
1060 1070 1080 1090 1100
TVALVFSKGK PFRQPTYTNY IFVLVLIIQL GVCLFILFAD IPELYRRLDL
1110 1120 1130 1140 1150
LCTPVLWRAS IVIMLSLNFI VSLVAEEAVI ENRALWMMIK RCFGYQSKSQ
1160 1170 1180 1190
YRIWQRDLAN DPSWPPLNQT SHSDMPECGR GVSYSNPVFE SNEEQL
Length:1,196
Mass (Da):133,987
Last modified:May 18, 2010 - v3
Checksum:i1D7F81F2BC266663
GO
Isoform 2 (identifier: Q4VNC1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     841-1196: Missing.

Note: Dubious isoform lacking mature mRNA evidence.
Show »
Length:840
Mass (Da):93,942
Checksum:iDD58938371710B93
GO
Isoform 3 (identifier: Q4VNC1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     559-576: EMAFSGDDFHIKGVPAHA → VSLCSSENLRSFFNARAT
     577-1196: Missing.

Note: No experimental confirmation available.
Show »
Length:576
Mass (Da):64,597
Checksum:iA878E82DBC38293A
GO
Isoform 4 (identifier: Q4VNC1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-984: Missing.

Note: No experimental confirmation available.
Show »
Length:212
Mass (Da):24,332
Checksum:i05E159C0B52CB7A1
GO

Sequence cautioni

The sequence CAC21667 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti840D → E in BAC04520 (PubMed:14702039).Curated1
Sequence conflicti840D → E in AAI01497 (PubMed:15489334).Curated1
Sequence conflicti975V → A in AAX24102 (PubMed:15925480).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038849181I → M.1 PublicationCorresponds to variant rs6788448dbSNPEnsembl.1
Natural variantiVAR_038850353V → A.1 Publication1
Natural variantiVAR_038851646E → D.1 PublicationCorresponds to variant rs35424709dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0312581 – 984Missing in isoform 4. 1 PublicationAdd BLAST984
Alternative sequenceiVSP_031259559 – 576EMAFS…VPAHA → VSLCSSENLRSFFNARAT in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_031260577 – 1196Missing in isoform 3. 1 PublicationAdd BLAST620
Alternative sequenceiVSP_031261841 – 1196Missing in isoform 2. 2 PublicationsAdd BLAST356

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY823162 mRNA. Translation: AAX24102.1.
AY358110 mRNA. Translation: AAQ88477.1.
AK095277 mRNA. Translation: BAC04520.1.
AC048351 Genomic DNA. No translation available.
AC092942 Genomic DNA. No translation available.
AC105057 Genomic DNA. No translation available.
BC101496 mRNA. Translation: AAI01497.1.
AL512736 mRNA. Translation: CAC21667.2. Sequence problems.
CCDSiCCDS3304.2. [Q4VNC1-1]
RefSeqiNP_115655.2. NM_032279.3. [Q4VNC1-1]
UniGeneiHs.674423.

Genome annotation databases

EnsembliENST00000295548; ENSP00000295548; ENSG00000127249. [Q4VNC1-3]
ENST00000342695; ENSP00000339182; ENSG00000127249. [Q4VNC1-1]
ENST00000400270; ENSP00000383129; ENSG00000127249. [Q4VNC1-4]
GeneIDi84239.
KEGGihsa:84239.
UCSCiuc003ftd.4. human. [Q4VNC1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY823162 mRNA. Translation: AAX24102.1.
AY358110 mRNA. Translation: AAQ88477.1.
AK095277 mRNA. Translation: BAC04520.1.
AC048351 Genomic DNA. No translation available.
AC092942 Genomic DNA. No translation available.
AC105057 Genomic DNA. No translation available.
BC101496 mRNA. Translation: AAI01497.1.
AL512736 mRNA. Translation: CAC21667.2. Sequence problems.
CCDSiCCDS3304.2. [Q4VNC1-1]
RefSeqiNP_115655.2. NM_032279.3. [Q4VNC1-1]
UniGeneiHs.674423.

3D structure databases

ProteinModelPortaliQ4VNC1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ4VNC1. 1 interactor.
STRINGi9606.ENSP00000339182.

PTM databases

iPTMnetiQ4VNC1.
PhosphoSitePlusiQ4VNC1.

Polymorphism and mutation databases

BioMutaiATP13A4.
DMDMi296439435.

Proteomic databases

PaxDbiQ4VNC1.
PeptideAtlasiQ4VNC1.
PRIDEiQ4VNC1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295548; ENSP00000295548; ENSG00000127249. [Q4VNC1-3]
ENST00000342695; ENSP00000339182; ENSG00000127249. [Q4VNC1-1]
ENST00000400270; ENSP00000383129; ENSG00000127249. [Q4VNC1-4]
GeneIDi84239.
KEGGihsa:84239.
UCSCiuc003ftd.4. human. [Q4VNC1-1]

Organism-specific databases

CTDi84239.
DisGeNETi84239.
GeneCardsiATP13A4.
HGNCiHGNC:25422. ATP13A4.
HPAiHPA051932.
MIMi609556. gene.
neXtProtiNX_Q4VNC1.
OpenTargetsiENSG00000127249.
PharmGKBiPA134979581.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0208. Eukaryota.
ENOG410XRCA. LUCA.
GeneTreeiENSGT00530000063001.
HOGENOMiHOG000171813.
HOVERGENiHBG065757.
InParanoidiQ4VNC1.
KOiK14951.
OMAiGALEDHH.
OrthoDBiEOG091G01IL.
PhylomeDBiQ4VNC1.
TreeFamiTF300331.

Enzyme and pathway databases

ReactomeiR-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

GenomeRNAii84239.
PROiQ4VNC1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127249.
CleanExiHS_ATP13A4.
ExpressionAtlasiQ4VNC1. baseline and differential.
GenevisibleiQ4VNC1. HS.

Family and domain databases

Gene3Di2.70.150.10. 1 hit.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProiIPR004014. ATPase_P-typ_cation-transptr_N.
IPR023299. 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]
PfamiPF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
PF12409. P5-ATPase. 1 hit.
[Graphical view]
SMARTiSM00831. Cation_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsiTIGR01494. ATPase_P-type. 3 hits.
TIGR01657. P-ATPase-V. 1 hit.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT134_HUMAN
AccessioniPrimary (citable) accession number: Q4VNC1
Secondary accession number(s): B7WPC7
, Q6UY23, Q8N1Q9, Q9H043
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 103 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.