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Q4VNC1 (AT134_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable cation-transporting ATPase 13A4

EC=3.6.3.-
Alternative name(s):
P5-ATPase isoform 4
Gene names
Name:ATP13A4
ORF Names:UNQ3052/PRO9871
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1196 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Catalytic activity

ATP + H2O = ADP + phosphate.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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. Ref.1

Induction

Decreased by half in the SLI patient lymphoblasts. Ref.1

Involvement in disease

A chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders. Paracentric inversion inv3(q25;q29). The inversion produces a disruption of the protein.

Sequence similarities

Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. [View classification]

Sequence caution

The sequence CAC21667.2 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4VNC1-1)

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.
Isoform 2 (identifier: Q4VNC1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     841-1196: Missing.
Note: Dubious isoform lacking mature mRNA evidence.
Isoform 3 (identifier: Q4VNC1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     559-576: EMAFSGDDFHIKGVPAHA → VSLCSSENLRSFFNARAT
     577-1196: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q4VNC1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-984: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11961196Probable cation-transporting ATPase 13A4
PRO_0000318675

Regions

Topological domain1 – 3131Cytoplasmic Potential
Transmembrane32 – 5221Helical; Potential
Topological domain53 – 197145Extracellular Potential
Transmembrane198 – 21821Helical; Potential
Topological domain219 – 2235Cytoplasmic Potential
Transmembrane224 – 24421Helical; Potential
Topological domain245 – 400156Extracellular Potential
Transmembrane401 – 42121Helical; Potential
Topological domain422 – 43615Cytoplasmic Potential
Transmembrane437 – 45721Helical; Potential
Topological domain458 – 900443Extracellular Potential
Transmembrane901 – 92121Helical; Potential
Topological domain922 – 93211Cytoplasmic Potential
Transmembrane933 – 95321Helical; Potential
Topological domain954 – 97219Extracellular Potential
Transmembrane973 – 99321Helical; Potential
Topological domain994 – 103542Cytoplasmic Potential
Transmembrane1036 – 105621Helical; Potential
Topological domain1057 – 107014Extracellular Potential
Transmembrane1071 – 109121Helical; Potential
Topological domain1092 – 110918Cytoplasmic Potential
Transmembrane1110 – 113021Helical; Potential
Topological domain1131 – 119666Extracellular Potential

Sites

Active site48614-aspartylphosphate intermediate By similarity
Metal binding8481Magnesium By similarity
Metal binding8521Magnesium By similarity

Natural variations

Alternative sequence1 – 984984Missing in isoform 4.
VSP_031258
Alternative sequence559 – 57618EMAFS…VPAHA → VSLCSSENLRSFFNARAT in isoform 3.
VSP_031259
Alternative sequence577 – 1196620Missing in isoform 3.
VSP_031260
Alternative sequence841 – 1196356Missing in isoform 2.
VSP_031261
Natural variant1811I → M. Ref.1
Corresponds to variant rs6788448 [ dbSNP | Ensembl ].
VAR_038849
Natural variant3531V → A. Ref.1
VAR_038850
Natural variant6461E → D. Ref.1
Corresponds to variant rs35424709 [ dbSNP | Ensembl ].
VAR_038851

Experimental info

Sequence conflict8401D → E in BAC04520. Ref.3
Sequence conflict8401D → E in AAI01497. Ref.5
Sequence conflict9751V → A in AAX24102. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 1D7F81F2BC266663

FASTA1,196133,987
        10         20         30         40         50         60 
MGHFEKGQHA LLNEGEENEM EIFGYRTQGC RKSLCLAGSI FSFGILPLVF YWRPAWHVWA 

        70         80         90        100        110        120 
HCVPCSLQEA DTVLLRTTDE FQIYSWKKVI WIYLSALNSA FGLTPDHPLM TDEEYIINRA 

       130        140        150        160        170        180 
IRKPDLKVRC IKVQKIRYVW NYLEGQFQKI GSLEDWLSSA KIHQKFGSGL TREEQEIRRL 

       190        200        210        220        230        240 
ICGPNTIDVE VTPIWKLLIK EVLNPFYIFQ LFSVCLWFSE DYKEYAFAII IMSIISISLT 

       250        260        270        280        290        300 
VYDLREQSVK LHHLVESHNS ITVSVCGRKA GVQELESRVL VPGDLLILTG NKVLMPCDAV 

       310        320        330        340        350        360 
LIEGSCVVDE GMLTGESIPV TKTPLPKMDS SVPWKTQSEA DYKRHVLFCG TEVIQAKAAC 

       370        380        390        400        410        420 
SGTVRAVVLQ TGFNTAKGDL VRSILYPKPV NFQLYRDAIR FLLCLVGTAT IGMIYTLCVY 

       430        440        450        460        470        480 
VLSGEPPEEV VRKALDVITI AVPPALPAAL TTGIIYAQRR LKKRGIFCIS PQRINVCGQL 

       490        500        510        520        530        540 
NLVCFDKTGT LTRDGLDLWG VVSCDRNGFQ EVHSFASGQA LPWGPLCAAM ASCHSLILLD 

       550        560        570        580        590        600 
GTIQGDPLDL KMFEATTWEM AFSGDDFHIK GVPAHAMVVK PCRTASQVPV EGIAILHQFP 

       610        620        630        640        650        660 
FSSALQRMTV IVQEMGGDRL AFMKGAPERV ASFCQPETVP TSFVSELQIY TTQGFRVIAL 

       670        680        690        700        710        720 
AYKKLENDHH ATTLTRETVE SDLIFLGLLI LENRLKEETK PVLEELISAR IRTVMITGDN 

       730        740        750        760        770        780 
LQTAITVARK SGMVSESQKV ILIEANETTG SSSASISWTL VEEKKHIMYG NQDNYINIRD 

       790        800        810        820        830        840 
EVSDKGREGS YHFALTGKSF HVISQHFSSL LPKILINGTI FARMSPGQKS SLVEEFQKLD 

       850        860        870        880        890        900 
YFVGMCGDGA NDCGALKMAH VGISLSEQEA SVASPFTSKT PNIECVPHLI KEGRAALVTS 

       910        920        930        940        950        960 
FCMFKYMALY SMIQYVGVLL LYWETNSLSN YQFLFQDLAI TTLIGVTMNL NGAYPKLVPF 

       970        980        990       1000       1010       1020 
RPAGRLISPP LLLSVIFNIL LSLAMHIAGF ILVQRQPWYS VEIHSACTVQ NESISELTMS 

      1030       1040       1050       1060       1070       1080 
PTAPEKMESN STFTSFENTT VWFLGTINCI TVALVFSKGK PFRQPTYTNY IFVLVLIIQL 

      1090       1100       1110       1120       1130       1140 
GVCLFILFAD IPELYRRLDL LCTPVLWRAS IVIMLSLNFI VSLVAEEAVI ENRALWMMIK 

      1150       1160       1170       1180       1190 
RCFGYQSKSQ YRIWQRDLAN DPSWPPLNQT SHSDMPECGR GVSYSNPVFE SNEEQL 

« Hide

Isoform 2 [UniParc].

Checksum: DD58938371710B93
Show »

FASTA84093,942
Isoform 3 [UniParc].

Checksum: A878E82DBC38293A
Show »

FASTA57664,597
Isoform 4 [UniParc].

Checksum: 05E159C0B52CB7A1
Show »

FASTA21224,332

References

« Hide 'large scale' references
[1]"Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay."
Kwasnicka-Crawford D.A., Carson A.R., Roberts W., Summers A.M., Rehnstrom K., Jarvela I., Scherer S.W.
Genomics 86:182-194(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INDUCTION, CHROMOSOMAL REARRANGEMENT, VARIANTS MET-181; ALA-353 AND ASP-646.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Tongue.
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 287-1196 (ISOFORM 3).
Tissue: Amygdala.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_115655.2. NM_032279.2.
UniGeneHs.674423.

3D structure databases

ProteinModelPortalQ4VNC1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ4VNC1. 1 interaction.
STRING9606.ENSP00000339182.

PTM databases

PhosphoSiteQ4VNC1.

Polymorphism databases

DMDM296439435.

Proteomic databases

PaxDbQ4VNC1.
PRIDEQ4VNC1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295548; ENSP00000295548; ENSG00000127249. [Q4VNC1-3]
ENST00000342695; ENSP00000339182; ENSG00000127249. [Q4VNC1-1]
ENST00000400270; ENSP00000383129; ENSG00000127249. [Q4VNC1-4]
GeneID84239.
KEGGhsa:84239.
UCSCuc003ftd.3. human. [Q4VNC1-1]

Organism-specific databases

CTD84239.
GeneCardsGC03M193119.
HGNCHGNC:25422. ATP13A4.
HPAHPA051932.
MIM609556. gene.
neXtProtNX_Q4VNC1.
PharmGKBPA134979581.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0474.
HOGENOMHOG000171813.
HOVERGENHBG065757.
InParanoidQ4VNC1.
KOK14951.
OMAINVCGQL.
PhylomeDBQ4VNC1.
TreeFamTF300331.

Gene expression databases

ArrayExpressQ4VNC1.
BgeeQ4VNC1.
CleanExHS_ATP13A4.
GenevestigatorQ4VNC1.

Family and domain databases

Gene3D2.70.150.10. 1 hit.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProIPR004014. ATPase_P-typ_cation-transptr_N.
IPR006544. ATPase_P-typ_Cation_typ_V.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view]
PfamPF00690. Cation_ATPase_N. 1 hit.
PF00122. E1-E2_ATPase. 1 hit.
PF12409. P5-ATPase. 1 hit.
[Graphical view]
PRINTSPR00119. CATATPASE.
SMARTSM00831. Cation_ATPase_N. 1 hit.
[Graphical view]
SUPFAMSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 1 hit.
TIGRFAMsTIGR01494. ATPase_P-type. 3 hits.
TIGR01657. P-ATPase-V. 1 hit.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84239.
NextBio73709.
PROQ4VNC1.
SOURCESearch...

Entry information

Entry nameAT134_HUMAN
AccessionPrimary (citable) accession number: Q4VNC1
Secondary accession number(s): B7WPC7 expand/collapse secondary AC list , Q6UY23, Q8N1Q9, Q9H043
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 81 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM