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Q8TF62

- AT8B4_HUMAN

UniProt

Q8TF62 - AT8B4_HUMAN

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Protein

Probable phospholipid-transporting ATPase IM

Gene

ATP8B4

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei392 – 39214-aspartylphosphate intermediateBy similarity
Metal bindingi815 – 8151MagnesiumBy similarity
Metal bindingi819 – 8191MagnesiumBy similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. cation-transporting ATPase activity Source: InterPro
  3. magnesium ion binding Source: InterPro
  4. phospholipid-translocating ATPase activity Source: UniProtKB-EC
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

ReactomeiREACT_25149. 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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:13536. ATP8B4.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Golgi apparatus 1 Publication

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25169.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11921192Probable phospholipid-transporting ATPase IMPRO_0000046368Add
BLAST

Proteomic databases

PaxDbiQ8TF62.
PRIDEiQ8TF62.

PTM databases

PhosphoSiteiQ8TF62.

Expressioni

Tissue specificityi

Ubiquitously expressed at moderate levels.

Gene expression databases

BgeeiQ8TF62.
CleanExiHS_ATP8B4.
ExpressionAtlasiQ8TF62. baseline and differential.
GenevestigatoriQ8TF62.

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.2 PublicationsCurated

Protein-protein interaction databases

IntActiQ8TF62. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8TF62.
SMRiQ8TF62. Positions 789-848.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4444CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini67 – 726Exoplasmic loopSequence Analysis
Topological domaini93 – 276184CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini299 – 32729Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini350 – 871522CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini893 – 90412Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini925 – 95430CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini977 – 99014Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini1014 – 10196CytoplasmicSequence Analysis
Topological domaini1041 – 106020Exoplasmic loopSequence AnalysisAdd
BLAST
Topological domaini1086 – 1192107CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei45 – 6622HelicalSequence AnalysisAdd
BLAST
Transmembranei73 – 9220HelicalSequence AnalysisAdd
BLAST
Transmembranei277 – 29822HelicalSequence AnalysisAdd
BLAST
Transmembranei328 – 34922HelicalSequence AnalysisAdd
BLAST
Transmembranei872 – 89221HelicalSequence AnalysisAdd
BLAST
Transmembranei905 – 92420HelicalSequence AnalysisAdd
BLAST
Transmembranei955 – 97622HelicalSequence AnalysisAdd
BLAST
Transmembranei991 – 101323HelicalSequence AnalysisAdd
BLAST
Transmembranei1020 – 104021HelicalSequence AnalysisAdd
BLAST
Transmembranei1061 – 108525HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
GeneTreeiENSGT00760000119246.
HOGENOMiHOG000202528.
HOVERGENiHBG050601.
InParanoidiQ8TF62.
KOiK01530.
OMAiQNSMDCP.
OrthoDBiEOG7RRF68.
PhylomeDBiQ8TF62.
TreeFamiTF300654.

Family and domain databases

Gene3Di2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProiIPR023299. 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]
PANTHERiPTHR24092. PTHR24092. 1 hit.
PfamiPF00122. E1-E2_ATPase. 1 hit.
[Graphical view]
PRINTSiPR00119. CATATPASE.
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 BAB85525.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin inserted in the coding sequence.
The sequence BAB15072.1 differs from that shown. Reason: Frameshift at position 997.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti631 – 6311G → E in BAB85525. (PubMed:11853319)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti225 – 2251N → S.
Corresponds to variant rs16963151 [ dbSNP | Ensembl ].
VAR_046962
Natural varianti452 – 4521H → N.
Corresponds to variant rs2452524 [ dbSNP | Ensembl ].
VAR_046963
Natural varianti1165 – 11651N → K.
Corresponds to variant rs16962989 [ dbSNP | Ensembl ].
VAR_046964
Natural varianti1190 – 11901V → G.
Corresponds to variant rs16962987 [ dbSNP | Ensembl ].
VAR_046965

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGeneiHs.511311.

Genome annotation databases

EnsembliENST00000284509; ENSP00000284509; ENSG00000104043.
ENST00000559829; ENSP00000453169; ENSG00000104043.
GeneIDi79895.
KEGGihsa:79895.
UCSCiuc001zxu.3. human.

Polymorphism databases

DMDMi209572761.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS32238.1.
RefSeqi NP_079113.2. NM_024837.3.
UniGenei Hs.511311.

3D structure databases

ProteinModelPortali Q8TF62.
SMRi Q8TF62. Positions 789-848.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q8TF62. 2 interactions.

PTM databases

PhosphoSitei Q8TF62.

Polymorphism databases

DMDMi 209572761.

Proteomic databases

PaxDbi Q8TF62.
PRIDEi Q8TF62.

Protocols and materials databases

DNASUi 79895.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284509 ; ENSP00000284509 ; ENSG00000104043 .
ENST00000559829 ; ENSP00000453169 ; ENSG00000104043 .
GeneIDi 79895.
KEGGi hsa:79895.
UCSCi uc001zxu.3. human.

Organism-specific databases

CTDi 79895.
GeneCardsi GC15M050150.
HGNCi HGNC:13536. ATP8B4.
HPAi HPA040254.
MIMi 609123. gene.
neXtProti NX_Q8TF62.
PharmGKBi PA25169.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0474.
GeneTreei ENSGT00760000119246.
HOGENOMi HOG000202528.
HOVERGENi HBG050601.
InParanoidi Q8TF62.
KOi K01530.
OMAi QNSMDCP.
OrthoDBi EOG7RRF68.
PhylomeDBi Q8TF62.
TreeFami TF300654.

Enzyme and pathway databases

Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSi ATP8B4. human.
GenomeRNAii 79895.
NextBioi 69726.
PROi Q8TF62.
SOURCEi Search...

Gene expression databases

Bgeei Q8TF62.
CleanExi HS_ATP8B4.
ExpressionAtlasi Q8TF62. baseline and differential.
Genevestigatori Q8TF62.

Family and domain databases

Gene3Di 2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
3.40.50.1000. 2 hits.
InterProi IPR023299. 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 ]
PANTHERi PTHR24092. PTHR24092. 1 hit.
Pfami PF00122. E1-E2_ATPase. 1 hit.
[Graphical view ]
PRINTSi PR00119. CATATPASE.
SUPFAMi SSF56784. SSF56784. 3 hits.
SSF81660. SSF81660. 2 hits.
TIGRFAMsi TIGR01652. ATPase-Plipid. 1 hit.
TIGR01494. ATPase_P-type. 2 hits.
PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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.
    , 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 907-1192.
    Tissue: Colon.
  4. "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: INTERACTION WITH TMEM30A, SUBCELLULAR LOCATION.
  5. "CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery."
    Bryde S., Hennrich H., Verhulst P.M., Devaux P.F., Lenoir G., Holthuis J.C.
    J. Biol. Chem. 285:40562-40572(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TMEM30A AND TMEM30B.

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: October 29, 2014
This is version 118 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

External Data

Dasty 3