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O60423 (AT8B3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 135. 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:
Phospholipid-transporting ATPase IK

EC=3.6.3.1
Alternative name(s):
ATPase class I type 8B member 3
Gene names
Name:ATP8B3
Synonyms:ATP1K, FOS37502_2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1300 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida By similarity.

Catalytic activity

ATP + H2O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).

Subcellular location

Cytoplasmic vesiclesecretory vesicleacrosome membrane By similarity; Multi-pass membrane protein By similarity. Endoplasmic reticulum Ref.6.

Tissue specificity

Isoform 3 was only detected in testis. Ref.1

Miscellaneous

Association with flippase complex beta subunits TMEM30A and TMEM30A has not been detected, neither did their coexpression change the localization in ER (Ref.6).

Sequence similarities

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

Sequence caution

The sequence AAC17601.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAB71492.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60423-2)

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: O60423-1)

The sequence of this isoform differs from the canonical sequence as follows:
     730-730: Q → QVYNEMEQDLR
Note: No experimental confirmation available.
Isoform 3 (identifier: O60423-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: Missing.
     354-354: A → ADGYMFV
     730-730: Q → QVYNEMEQDLR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13001300Phospholipid-transporting ATPase IK
PRO_0000046367

Regions

Topological domain1 – 149149Cytoplasmic Potential
Transmembrane150 – 17122Helical; Potential
Topological domain172 – 1776Exoplasmic loop Potential
Transmembrane178 – 19720Helical; Potential
Topological domain198 – 381184Cytoplasmic Potential
Transmembrane382 – 40322Helical; Potential
Topological domain404 – 43027Exoplasmic loop Potential
Transmembrane431 – 45222Helical; Potential
Topological domain453 – 995543Cytoplasmic Potential
Transmembrane996 – 101621Helical; Potential
Topological domain1017 – 102812Exoplasmic loop Potential
Transmembrane1029 – 104820Helical; Potential
Topological domain1049 – 107830Cytoplasmic Potential
Transmembrane1079 – 110022Helical; Potential
Topological domain1101 – 111212Exoplasmic loop Potential
Transmembrane1113 – 113523Helical; Potential
Topological domain1136 – 11416Cytoplasmic Potential
Transmembrane1142 – 116221Helical; Potential
Topological domain1163 – 118220Exoplasmic loop Potential
Transmembrane1183 – 120725Helical; Potential
Topological domain1208 – 130093Cytoplasmic Potential

Sites

Active site49514-aspartylphosphate intermediate By similarity
Metal binding9391Magnesium By similarity
Metal binding9431Magnesium By similarity

Natural variations

Alternative sequence1 – 5353Missing in isoform 3.
VSP_043554
Alternative sequence3541A → ADGYMFV in isoform 3.
VSP_043555
Alternative sequence7301Q → QVYNEMEQDLR in isoform 2 and isoform 3.
VSP_039716
Natural variant451G → R.
Corresponds to variant rs7250872 [ dbSNP | Ensembl ].
VAR_055544
Natural variant6181V → I.
Corresponds to variant rs8100856 [ dbSNP | Ensembl ].
VAR_055545

Sequences

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

Last modified October 5, 2010. Version 4.
Checksum: 356B1972DD49DFF5

FASTA1,300146,752
        10         20         30         40         50         60 
MGTGPAQTPR STRAGPEPSP APPGPGDTGD SDVTQEGSGP AGIRGGETVI RAGMGDSPGR 

        70         80         90        100        110        120 
GAPERRHKAQ PGRARKYEWR PEGPTSMGSL GQREDLQDED RNSAFTWKVQ ANNRAYNGQF 

       130        140        150        160        170        180 
KEKVILCWQR KKYKTNVIRT AKYNFYSFLP LNLYEQFHRV SNLFFLIIII LQSIPDISTL 

       190        200        210        220        230        240 
PWFSLSTPMV CLLFIRATRD LVDDMGRHKS DRAINNRPCQ ILMGKSFKQK KWQDLCVGDV 

       250        260        270        280        290        300 
VCLRKDNIVP ADMLLLASTE PSSLCYVETV DIDGETNLKF RQALMVTHKE LATIKKMASF 

       310        320        330        340        350        360 
QGTVTCEAPN SRMHHFVGCL EWNDKKYSLD IGNLLLRGCR IRNTDTCYGL VIYAGFDTKI 

       370        380        390        400        410        420 
MKNCGKIHLK RTKLDLLMNK LVVVIFISVV LVCLVLAFGF GFSVKEFKDH HYYLSGVHGS 

       430        440        450        460        470        480 
SVAAESFFVF WSFLILLSVT IPMSMFILSE FIYLGNSVFI DWDVQMYYKP QDVPAKARST 

       490        500        510        520        530        540 
SLNDHLGQVE YIFSDKTGTL TQNILTFNKC CISGRVYGPD SEATTRPKEN PYLWNKFADG 

       550        560        570        580        590        600 
KLLFHNAALL HLVRTNGDEA VREFWRLLAI CHTVMVRESP RERPDQLLYQ AASPDEGALV 

       610        620        630        640        650        660 
TAARNFGYVF LSRTQDTVTI MELGEERVYQ VLAIMDFNST RKRMSVLVRK PEGAICLYTK 

       670        680        690        700        710        720 
GADTVIFERL HRRGAMEFAT EEALAAFAQE TLRTLCLAYR EVAEDIYEDW QQRHQEASLL 

       730        740        750        760        770        780 
LQNRAQALQQ LLGATAIEDR LQDGVPETIK CLKKSNIKIW VLTGDKQETA VNIGFACELL 

       790        800        810        820        830        840 
SENMLILEEK EISRILETYW ENSNNLLTRE SLSQVKLALV INGDFLDKLL VSLRKEPRAL 

       850        860        870        880        890        900 
AQNVNMDEAW QELGQSRRDF LYARRLSLLC RRFGLPLAAP PAQDSRARRS SEVLQERAFV 

       910        920        930        940        950        960 
DLASKCQAVI CCRVTPKQKA LIVALVKKYH QVVTLAIGDG ANDINMIKTA DVGVGLAGQE 

       970        980        990       1000       1010       1020 
GMQAVQNSDF VLGQFCFLQR LLLVHGRWSY VRICKFLRYF FYKSMASMMV QVWFACYNGF 

      1030       1040       1050       1060       1070       1080 
TGQPLYEGWF LALFNLLYST LPVLYIGLFE QDVSAEQSLE KPELYVVGQK DELFNYWVFV 

      1090       1100       1110       1120       1130       1140 
QAIAHGVTTS LVNFFMTLWI SRDTAGPASF SDHQSFAVVV ALSCLLSITM EVILIIKYWT 

      1150       1160       1170       1180       1190       1200 
ALCVATILLS LGFYAIMTTT TQSFWLFRVS PTTFPFLYAD LSVMSSPSIL LVVLLSVSIN 

      1210       1220       1230       1240       1250       1260 
TFPVLALRVI FPALKELRAK EEKVEEGPSE EIFTMEPLPH VHRESRARRS SYAFSHREGY 

      1270       1280       1290       1300 
ANLITQGTIL RRGPGVSSDI ASESLDPSDE EAASSPKESQ 

« Hide

Isoform 2 [UniParc].

Checksum: F1A1C25A8DE696FC
Show »

FASTA1,310148,031
Isoform 3 [UniParc].

Checksum: 246752DB1DAC2E44
Show »

FASTA1,263143,705

References

« Hide 'large scale' references
[1]"FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body."
Harris M.J., Arias I.M.
Biochim. Biophys. Acta 1633:127-131(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY.
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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 1).
Tissue: Eye and Testis.
[5]"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] OF 968-1300.
Tissue: Testis.
[6]"Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases."
van der Velden L.M., Wichers C.G., van Breevoort A.E., Coleman J.A., Molday R.S., Berger R., Klomp L.W., van de Graaf S.F.
J. Biol. Chem. 285:40088-40096(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY302538 mRNA. Translation: AAQ19028.1.
AC004755 Genomic DNA. Translation: AAC17601.1. Sequence problems.
AC012615 Genomic DNA. No translation available.
CH471139 Genomic DNA. Translation: EAW69455.1.
AK057452 mRNA. Translation: BAB71492.1. Different initiation.
BC035162 mRNA. Translation: AAH35162.3.
CCDSCCDS45901.1. [O60423-2]
CCDS54196.1. [O60423-3]
RefSeqNP_001171473.1. NM_001178002.2. [O60423-3]
NP_620168.1. NM_138813.3. [O60423-2]
XP_006722717.1. XM_006722654.1. [O60423-1]
XP_006722718.1. XM_006722655.1. [O60423-1]
UniGeneHs.306212.

3D structure databases

ProteinModelPortalO60423.
SMRO60423. Positions 740-779, 912-974.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127132. 1 interaction.
MINTMINT-4656966.
STRING9606.ENSP00000311336.

PTM databases

PhosphoSiteO60423.

Proteomic databases

PaxDbO60423.
PRIDEO60423.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310127; ENSP00000311336; ENSG00000130270. [O60423-2]
ENST00000525591; ENSP00000437115; ENSG00000130270. [O60423-3]
ENST00000539485; ENSP00000443574; ENSG00000130270. [O60423-1]
GeneID148229.
KEGGhsa:148229.
UCSCuc002ltv.4. human. [O60423-3]
uc002ltw.4. human. [O60423-2]

Organism-specific databases

CTD148229.
GeneCardsGC19M001733.
H-InvDBHIX0202756.
HGNCHGNC:13535. ATP8B3.
HPAHPA041992.
HPA043582.
MIM605866. gene.
neXtProtNX_O60423.
PharmGKBPA25168.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0474.
HOGENOMHOG000202528.
HOVERGENHBG050601.
InParanoidO60423.
KOK01530.
OMAKENPYLW.
OrthoDBEOG7RRF68.
PhylomeDBO60423.
TreeFamTF300654.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressO60423.
BgeeO60423.
CleanExHS_ATP8B3.
GenevestigatorO60423.

Family and domain databases

Gene3D2.70.150.10. 2 hits.
3.40.1110.10. 1 hit.
3.40.50.1000. 2 hits.
InterProIPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR006539. ATPase_P-typ_Plipid-transp.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR001757. Cation_transp_P_typ_ATPase.
IPR023214. HAD-like_dom.
[Graphical view]
PANTHERPTHR24092. PTHR24092. 1 hit.
PfamPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
PRINTSPR00119. CATATPASE.
SUPFAMSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 1 hit.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSATP8B3. human.
GeneWikiATP8B3.
GenomeRNAi148229.
NextBio85875.
PROO60423.
SOURCESearch...

Entry information

Entry nameAT8B3_HUMAN
AccessionPrimary (citable) accession number: O60423
Secondary accession number(s): Q7Z485 expand/collapse secondary AC list , Q8IVB8, Q8N4Y8, Q96M22
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 135 of the entry and version 4 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 19

Human chromosome 19: entries, gene names and cross-references to MIM