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Protein

Probable phospholipid-transporting ATPase IM

Gene

ATP8B4

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

Functioni

Component of a P4-ATPase flippase complex 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 (Probable).Curated

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei3924-aspartylphosphate intermediateBy similarity1
Metal bindingi815MagnesiumBy similarity1
Metal bindingi819MagnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid transport, Transport

Keywords - Ligandi

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

Enzyme and pathway databases

BioCyciZFISH:HS02539-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-936837. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable phospholipid-transporting ATPase IM (EC:3.6.3.1)
Alternative name(s):
ATPase class I type 8B member 4
P4-ATPase flippase complex alpha subunit ATP8B4
Gene namesi
Name:ATP8B4
Synonyms:KIAA1939
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:13536. ATP8B4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 44CytoplasmicSequence analysisAdd BLAST44
Transmembranei45 – 66HelicalSequence analysisAdd BLAST22
Topological domaini67 – 72Exoplasmic loopSequence analysis6
Transmembranei73 – 92HelicalSequence analysisAdd BLAST20
Topological domaini93 – 276CytoplasmicSequence analysisAdd BLAST184
Transmembranei277 – 298HelicalSequence analysisAdd BLAST22
Topological domaini299 – 327Exoplasmic loopSequence analysisAdd BLAST29
Transmembranei328 – 349HelicalSequence analysisAdd BLAST22
Topological domaini350 – 871CytoplasmicSequence analysisAdd BLAST522
Transmembranei872 – 892HelicalSequence analysisAdd BLAST21
Topological domaini893 – 904Exoplasmic loopSequence analysisAdd BLAST12
Transmembranei905 – 924HelicalSequence analysisAdd BLAST20
Topological domaini925 – 954CytoplasmicSequence analysisAdd BLAST30
Transmembranei955 – 976HelicalSequence analysisAdd BLAST22
Topological domaini977 – 990Exoplasmic loopSequence analysisAdd BLAST14
Transmembranei991 – 1013HelicalSequence analysisAdd BLAST23
Topological domaini1014 – 1019CytoplasmicSequence analysis6
Transmembranei1020 – 1040HelicalSequence analysisAdd BLAST21
Topological domaini1041 – 1060Exoplasmic loopSequence analysisAdd BLAST20
Transmembranei1061 – 1085HelicalSequence analysisAdd BLAST25
Topological domaini1086 – 1192CytoplasmicSequence analysisAdd BLAST107

GO - Cellular componenti

  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi79895.
OpenTargetsiENSG00000104043.
PharmGKBiPA25169.

Polymorphism and mutation databases

DMDMi209572761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000463681 – 1192Probable phospholipid-transporting ATPase IMAdd BLAST1192

Proteomic databases

EPDiQ8TF62.
PaxDbiQ8TF62.
PeptideAtlasiQ8TF62.
PRIDEiQ8TF62.

PTM databases

iPTMnetiQ8TF62.
PhosphoSitePlusiQ8TF62.

Expressioni

Tissue specificityi

Ubiquitously expressed at moderate levels.

Gene expression databases

BgeeiENSG00000104043.
CleanExiHS_ATP8B4.
ExpressionAtlasiQ8TF62. baseline and differential.
GenevisibleiQ8TF62. HS.

Organism-specific databases

HPAiHPA040254.

Interactioni

Subunit structurei

Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). Interacts with beta subunits TMEM30A and TMEM30B.Curated2 Publications

Protein-protein interaction databases

IntActiQ8TF62. 2 interactors.
STRINGi9606.ENSP00000284509.

Structurei

3D structure databases

ProteinModelPortaliQ8TF62.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0206. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00860000133706.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiQ8TF62.
KOiK01530.
OMAiNFSNGHV.
OrthoDBiEOG091G0139.
PhylomeDBiQ8TF62.
TreeFamiTF300654.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR030348. ATP8B4.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006539. P-type_ATPase_IV.
IPR032631. P-type_ATPase_N.
IPR001757. P_typ_ATPase.
IPR032630. P_typ_ATPase_c.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 1 hit.
PTHR24092:SF80. PTHR24092:SF80. 1 hit.
PfamiPF00122. E1-E2_ATPase. 1 hit.
PF16212. PhoLip_ATPase_C. 1 hit.
PF16209. PhoLip_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8TF62-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFCSEKKLRE VERIVKANDR EYNEKFQYAD NRIHTSKYNI LTFLPINLFE
60 70 80 90 100
QFQRVANAYF LCLLILQLIP EISSLTWFTT IVPLVLVITM TAVKDATDDY
110 120 130 140 150
FRHKSDNQVN NRQSEVLINS KLQNEKWMNV KVGDIIKLEN NQFVAADLLL
160 170 180 190 200
LSSSEPHGLC YVETAELDGE TNLKVRHALS VTSELGADIS RLAGFDGIVV
210 220 230 240 250
CEVPNNKLDK FMGILSWKDS KHSLNNEKII LRGCILRNTS WCFGMVIFAG
260 270 280 290 300
PDTKLMQNSG KTKFKRTSID RLMNTLVLWI FGFLICLGII LAIGNSIWES
310 320 330 340 350
QTGDQFRTFL FWNEGEKSSV FSGFLTFWSY IIILNTVVPI SLYVSVEVIR
360 370 380 390 400
LGHSYFINWD RKMYYSRKAI PAVARTTTLN EELGQIEYIF SDKTGTLTQN
410 420 430 440 450
IMTFKRCSIN GRIYGEVHDD LDQKTEITQE KEPVDFSVKS QADREFQFFD
460 470 480 490 500
HHLMESIKMG DPKVHEFLRL LALCHTVMSE ENSAGELIYQ VQSPDEGALV
510 520 530 540 550
TAARNFGFIF KSRTPETITI EELGTLVTYQ LLAFLDFNNT RKRMSVIVRN
560 570 580 590 600
PEGQIKLYSK GADTILFEKL HPSNEVLLSL TSDHLSEFAG EGLRTLAIAY
610 620 630 640 650
RDLDDKYFKE WHKMLEDANA ATEERDERIA GLYEEIERDL MLLGATAVED
660 670 680 690 700
KLQEGVIETV TSLSLANIKI WVLTGDKQET AINIGYACNM LTDDMNDVFV
710 720 730 740 750
IAGNNAVEVR EELRKAKQNL FGQNRNFSNG HVVCEKKQQL ELDSIVEETI
760 770 780 790 800
TGDYALIING HSLAHALESD VKNDLLELAC MCKTVICCRV TPLQKAQVVE
810 820 830 840 850
LVKKYRNAVT LAIGDGANDV SMIKSAHIGV GISGQEGLQA VLASDYSFAQ
860 870 880 890 900
FRYLQRLLLV HGRWSYFRMC KFLCYFFYKN FAFTLVHFWF GFFCGFSAQT
910 920 930 940 950
VYDQWFITLF NIVYTSLPVL AMGIFDQDVS DQNSVDCPQL YKPGQLNLLF
960 970 980 990 1000
NKRKFFICVL HGIYTSLVLF FIPYGAFYNV AGEDGQHIAD YQSFAVTMAT
1010 1020 1030 1040 1050
SLVIVVSVQI ALDTSYWTFI NHVFIWGSIA IYFSILFTMH SNGIFGIFPN
1060 1070 1080 1090 1100
QFPFVGNARH SLTQKCIWLV ILLTTVASVM PVVAFRFLKV DLYPTLSDQI
1110 1120 1130 1140 1150
RRWQKAQKKA RPPSSRRPRT RRSSSRRSGY AFAHQEGYGE LITSGKNMRA
1160 1170 1180 1190
KNPPPTSGLE KTHYNSTSWI ENLCKKTTDT VSSFSQDKTV KL
Length:1,192
Mass (Da):135,868
Last modified:October 14, 2008 - v3
Checksum:iFFE8D935B7544D73
GO

Sequence cautioni

The sequence BAB15072 differs from that shown. Reason: Frameshift at position 997.Curated
The sequence BAB85525 differs from that shown. Contaminating sequence. Sequence of unknown origin inserted in the coding sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti631G → E in BAB85525 (PubMed:11853319).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046962225N → S.Corresponds to variant rs16963151dbSNPEnsembl.1
Natural variantiVAR_046963452H → N.Corresponds to variant rs2452524dbSNPEnsembl.1
Natural variantiVAR_0469641165N → K.Corresponds to variant rs16962989dbSNPEnsembl.1
Natural variantiVAR_0469651190V → G.Corresponds to variant rs16962987dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075819 mRNA. Translation: BAB85525.1. Sequence problems.
AC009753 Genomic DNA. No translation available.
AC016045 Genomic DNA. No translation available.
AC025040 Genomic DNA. No translation available.
AK025125 mRNA. Translation: BAB15072.1. Frameshift.
CCDSiCCDS32238.1.
RefSeqiNP_079113.2. NM_024837.3.
XP_016878081.1. XM_017022592.1.
UniGeneiHs.511311.

Genome annotation databases

EnsembliENST00000284509; ENSP00000284509; ENSG00000104043.
ENST00000559829; ENSP00000453169; ENSG00000104043.
GeneIDi79895.
KEGGihsa:79895.
UCSCiuc001zxu.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075819 mRNA. Translation: BAB85525.1. Sequence problems.
AC009753 Genomic DNA. No translation available.
AC016045 Genomic DNA. No translation available.
AC025040 Genomic DNA. No translation available.
AK025125 mRNA. Translation: BAB15072.1. Frameshift.
CCDSiCCDS32238.1.
RefSeqiNP_079113.2. NM_024837.3.
XP_016878081.1. XM_017022592.1.
UniGeneiHs.511311.

3D structure databases

ProteinModelPortaliQ8TF62.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8TF62. 2 interactors.
STRINGi9606.ENSP00000284509.

PTM databases

iPTMnetiQ8TF62.
PhosphoSitePlusiQ8TF62.

Polymorphism and mutation databases

DMDMi209572761.

Proteomic databases

EPDiQ8TF62.
PaxDbiQ8TF62.
PeptideAtlasiQ8TF62.
PRIDEiQ8TF62.

Protocols and materials databases

DNASUi79895.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284509; ENSP00000284509; ENSG00000104043.
ENST00000559829; ENSP00000453169; ENSG00000104043.
GeneIDi79895.
KEGGihsa:79895.
UCSCiuc001zxu.4. human.

Organism-specific databases

CTDi79895.
DisGeNETi79895.
GeneCardsiATP8B4.
HGNCiHGNC:13536. ATP8B4.
HPAiHPA040254.
MIMi609123. gene.
neXtProtiNX_Q8TF62.
OpenTargetsiENSG00000104043.
PharmGKBiPA25169.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0206. Eukaryota.
COG0474. LUCA.
GeneTreeiENSGT00860000133706.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiQ8TF62.
KOiK01530.
OMAiNFSNGHV.
OrthoDBiEOG091G0139.
PhylomeDBiQ8TF62.
TreeFamiTF300654.

Enzyme and pathway databases

BioCyciZFISH:HS02539-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-936837. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSiATP8B4. human.
GenomeRNAii79895.
PROiQ8TF62.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104043.
CleanExiHS_ATP8B4.
ExpressionAtlasiQ8TF62. baseline and differential.
GenevisibleiQ8TF62. HS.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR030348. ATP8B4.
IPR023299. ATPase_P-typ_cyto_domN.
IPR018303. ATPase_P-typ_P_site.
IPR008250. ATPase_P-typ_transduc_dom_A.
IPR023214. HAD-like_dom.
IPR006539. P-type_ATPase_IV.
IPR032631. P-type_ATPase_N.
IPR001757. P_typ_ATPase.
IPR032630. P_typ_ATPase_c.
[Graphical view]
PANTHERiPTHR24092. PTHR24092. 1 hit.
PTHR24092:SF80. PTHR24092:SF80. 1 hit.
PfamiPF00122. E1-E2_ATPase. 1 hit.
PF16212. PhoLip_ATPase_C. 1 hit.
PF16209. PhoLip_ATPase_N. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsiTIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT8B4_HUMAN
AccessioniPrimary (citable) accession number: Q8TF62
Secondary accession number(s): Q9H727
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 30, 2003
Last sequence update: October 14, 2008
Last modified: November 30, 2016
This is version 135 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 15
    Human chromosome 15: 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.