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Q8TF62

- AT8B4_HUMAN

UniProt

Q8TF62 - AT8B4_HUMAN

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Protein
Probable phospholipid-transporting ATPase IM
Gene
ATP8B4, KIAA1939
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 Inferred.

Catalytic activityi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei392 – 39214-aspartylphosphate intermediate By similarity
Metal bindingi815 – 8151Magnesium By similarity
Metal bindingi819 – 8191Magnesium By 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; Multi-pass membrane protein. Golgi apparatus 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4444Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei45 – 6622Helical; Reviewed prediction
Add
BLAST
Topological domaini67 – 726Exoplasmic loop Reviewed prediction
Transmembranei73 – 9220Helical; Reviewed prediction
Add
BLAST
Topological domaini93 – 276184Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei277 – 29822Helical; Reviewed prediction
Add
BLAST
Topological domaini299 – 32729Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei328 – 34922Helical; Reviewed prediction
Add
BLAST
Topological domaini350 – 871522Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei872 – 89221Helical; Reviewed prediction
Add
BLAST
Topological domaini893 – 90412Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei905 – 92420Helical; Reviewed prediction
Add
BLAST
Topological domaini925 – 95430Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei955 – 97622Helical; Reviewed prediction
Add
BLAST
Topological domaini977 – 99014Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei991 – 101323Helical; Reviewed prediction
Add
BLAST
Topological domaini1014 – 10196Cytoplasmic Reviewed prediction
Transmembranei1020 – 104021Helical; Reviewed prediction
Add
BLAST
Topological domaini1041 – 106020Exoplasmic loop Reviewed prediction
Add
BLAST
Transmembranei1061 – 108525Helical; Reviewed prediction
Add
BLAST
Topological domaini1086 – 1192107Cytoplasmic Reviewed prediction
Add
BLAST

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 IM
PRO_0000046368Add
BLAST

Proteomic databases

PaxDbiQ8TF62.
PRIDEiQ8TF62.

PTM databases

PhosphoSiteiQ8TF62.

Expressioni

Tissue specificityi

Ubiquitously expressed at moderate levels.

Gene expression databases

ArrayExpressiQ8TF62.
BgeeiQ8TF62.
CleanExiHS_ATP8B4.
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 Inferred. Interacts with beta subunits TMEM30A and TMEM30B.2 Publications

Protein-protein interaction databases

IntActiQ8TF62. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8TF62.
SMRiQ8TF62. Positions 789-849.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0474.
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

MFCSEKKLRE VERIVKANDR EYNEKFQYAD NRIHTSKYNI LTFLPINLFE     50
QFQRVANAYF LCLLILQLIP EISSLTWFTT IVPLVLVITM TAVKDATDDY 100
FRHKSDNQVN NRQSEVLINS KLQNEKWMNV KVGDIIKLEN NQFVAADLLL 150
LSSSEPHGLC YVETAELDGE TNLKVRHALS VTSELGADIS RLAGFDGIVV 200
CEVPNNKLDK FMGILSWKDS KHSLNNEKII LRGCILRNTS WCFGMVIFAG 250
PDTKLMQNSG KTKFKRTSID RLMNTLVLWI FGFLICLGII LAIGNSIWES 300
QTGDQFRTFL FWNEGEKSSV FSGFLTFWSY IIILNTVVPI SLYVSVEVIR 350
LGHSYFINWD RKMYYSRKAI PAVARTTTLN EELGQIEYIF SDKTGTLTQN 400
IMTFKRCSIN GRIYGEVHDD LDQKTEITQE KEPVDFSVKS QADREFQFFD 450
HHLMESIKMG DPKVHEFLRL LALCHTVMSE ENSAGELIYQ VQSPDEGALV 500
TAARNFGFIF KSRTPETITI EELGTLVTYQ LLAFLDFNNT RKRMSVIVRN 550
PEGQIKLYSK GADTILFEKL HPSNEVLLSL TSDHLSEFAG EGLRTLAIAY 600
RDLDDKYFKE WHKMLEDANA ATEERDERIA GLYEEIERDL MLLGATAVED 650
KLQEGVIETV TSLSLANIKI WVLTGDKQET AINIGYACNM LTDDMNDVFV 700
IAGNNAVEVR EELRKAKQNL FGQNRNFSNG HVVCEKKQQL ELDSIVEETI 750
TGDYALIING HSLAHALESD VKNDLLELAC MCKTVICCRV TPLQKAQVVE 800
LVKKYRNAVT LAIGDGANDV SMIKSAHIGV GISGQEGLQA VLASDYSFAQ 850
FRYLQRLLLV HGRWSYFRMC KFLCYFFYKN FAFTLVHFWF GFFCGFSAQT 900
VYDQWFITLF NIVYTSLPVL AMGIFDQDVS DQNSVDCPQL YKPGQLNLLF 950
NKRKFFICVL HGIYTSLVLF FIPYGAFYNV AGEDGQHIAD YQSFAVTMAT 1000
SLVIVVSVQI ALDTSYWTFI NHVFIWGSIA IYFSILFTMH SNGIFGIFPN 1050
QFPFVGNARH SLTQKCIWLV ILLTTVASVM PVVAFRFLKV DLYPTLSDQI 1100
RRWQKAQKKA RPPSSRRPRT RRSSSRRSGY AFAHQEGYGE LITSGKNMRA 1150
KNPPPTSGLE KTHYNSTSWI ENLCKKTTDT VSSFSQDKTV KL 1192
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.

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti631 – 6311G → E in BAB85525. 1 Publication

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 789-849.
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.
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

ArrayExpressi Q8TF62.
Bgeei Q8TF62.
CleanExi HS_ATP8B4.
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: September 3, 2014
This is version 116 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

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