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Q8TF62 (AT8B4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ATP8B4
Synonyms:KIAA1939
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1192 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Catalytic activity

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

Subunit structure

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. Ref.4 Ref.5

Subcellular location

Cell membrane; Multi-pass membrane protein. Golgi apparatus Ref.4.

Tissue specificity

Ubiquitously expressed at moderate levels.

Sequence similarities

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

Sequence caution

The sequence BAB15072.1 differs from that shown. Reason: Frameshift at position 997.

The sequence BAB85525.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin inserted in the coding sequence.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11921192Probable phospholipid-transporting ATPase IM
PRO_0000046368

Regions

Topological domain1 – 4444Cytoplasmic Potential
Transmembrane45 – 6622Helical; Potential
Topological domain67 – 726Exoplasmic loop Potential
Transmembrane73 – 9220Helical; Potential
Topological domain93 – 276184Cytoplasmic Potential
Transmembrane277 – 29822Helical; Potential
Topological domain299 – 32729Exoplasmic loop Potential
Transmembrane328 – 34922Helical; Potential
Topological domain350 – 871522Cytoplasmic Potential
Transmembrane872 – 89221Helical; Potential
Topological domain893 – 90412Exoplasmic loop Potential
Transmembrane905 – 92420Helical; Potential
Topological domain925 – 95430Cytoplasmic Potential
Transmembrane955 – 97622Helical; Potential
Topological domain977 – 99014Exoplasmic loop Potential
Transmembrane991 – 101323Helical; Potential
Topological domain1014 – 10196Cytoplasmic Potential
Transmembrane1020 – 104021Helical; Potential
Topological domain1041 – 106020Exoplasmic loop Potential
Transmembrane1061 – 108525Helical; Potential
Topological domain1086 – 1192107Cytoplasmic Potential

Sites

Active site39214-aspartylphosphate intermediate By similarity
Metal binding8151Magnesium By similarity
Metal binding8191Magnesium By similarity

Natural variations

Natural variant2251N → S.
Corresponds to variant rs16963151 [ dbSNP | Ensembl ].
VAR_046962
Natural variant4521H → N.
Corresponds to variant rs2452524 [ dbSNP | Ensembl ].
VAR_046963
Natural variant11651N → K.
Corresponds to variant rs16962989 [ dbSNP | Ensembl ].
VAR_046964
Natural variant11901V → G.
Corresponds to variant rs16962987 [ dbSNP | Ensembl ].
VAR_046965

Experimental info

Sequence conflict6311G → E in BAB85525. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q8TF62 [UniParc].

Last modified October 14, 2008. Version 3.
Checksum: FFE8D935B7544D73

FASTA1,192135,868
        10         20         30         40         50         60 
MFCSEKKLRE VERIVKANDR EYNEKFQYAD NRIHTSKYNI LTFLPINLFE QFQRVANAYF 

        70         80         90        100        110        120 
LCLLILQLIP EISSLTWFTT IVPLVLVITM TAVKDATDDY FRHKSDNQVN NRQSEVLINS 

       130        140        150        160        170        180 
KLQNEKWMNV KVGDIIKLEN NQFVAADLLL LSSSEPHGLC YVETAELDGE TNLKVRHALS 

       190        200        210        220        230        240 
VTSELGADIS RLAGFDGIVV CEVPNNKLDK FMGILSWKDS KHSLNNEKII LRGCILRNTS 

       250        260        270        280        290        300 
WCFGMVIFAG PDTKLMQNSG KTKFKRTSID RLMNTLVLWI FGFLICLGII LAIGNSIWES 

       310        320        330        340        350        360 
QTGDQFRTFL FWNEGEKSSV FSGFLTFWSY IIILNTVVPI SLYVSVEVIR LGHSYFINWD 

       370        380        390        400        410        420 
RKMYYSRKAI PAVARTTTLN EELGQIEYIF SDKTGTLTQN IMTFKRCSIN GRIYGEVHDD 

       430        440        450        460        470        480 
LDQKTEITQE KEPVDFSVKS QADREFQFFD HHLMESIKMG DPKVHEFLRL LALCHTVMSE 

       490        500        510        520        530        540 
ENSAGELIYQ VQSPDEGALV TAARNFGFIF KSRTPETITI EELGTLVTYQ LLAFLDFNNT 

       550        560        570        580        590        600 
RKRMSVIVRN PEGQIKLYSK GADTILFEKL HPSNEVLLSL TSDHLSEFAG EGLRTLAIAY 

       610        620        630        640        650        660 
RDLDDKYFKE WHKMLEDANA ATEERDERIA GLYEEIERDL MLLGATAVED KLQEGVIETV 

       670        680        690        700        710        720 
TSLSLANIKI WVLTGDKQET AINIGYACNM LTDDMNDVFV IAGNNAVEVR EELRKAKQNL 

       730        740        750        760        770        780 
FGQNRNFSNG HVVCEKKQQL ELDSIVEETI TGDYALIING HSLAHALESD VKNDLLELAC 

       790        800        810        820        830        840 
MCKTVICCRV TPLQKAQVVE LVKKYRNAVT LAIGDGANDV SMIKSAHIGV GISGQEGLQA 

       850        860        870        880        890        900 
VLASDYSFAQ FRYLQRLLLV HGRWSYFRMC KFLCYFFYKN FAFTLVHFWF GFFCGFSAQT 

       910        920        930        940        950        960 
VYDQWFITLF NIVYTSLPVL AMGIFDQDVS DQNSVDCPQL YKPGQLNLLF NKRKFFICVL 

       970        980        990       1000       1010       1020 
HGIYTSLVLF FIPYGAFYNV AGEDGQHIAD YQSFAVTMAT SLVIVVSVQI ALDTSYWTFI 

      1030       1040       1050       1060       1070       1080 
NHVFIWGSIA IYFSILFTMH SNGIFGIFPN QFPFVGNARH SLTQKCIWLV ILLTTVASVM 

      1090       1100       1110       1120       1130       1140 
PVVAFRFLKV DLYPTLSDQI RRWQKAQKKA RPPSSRRPRT RRSSSRRSGY AFAHQEGYGE 

      1150       1160       1170       1180       1190 
LITSGKNMRA KNPPPTSGLE KTHYNSTSWI ENLCKKTTDT VSSFSQDKTV KL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. 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 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32238.1.
RefSeqNP_079113.2. NM_024837.3.
UniGeneHs.511311.

3D structure databases

ProteinModelPortalQ8TF62.
SMRQ8TF62. Positions 789-849.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8TF62.

Polymorphism databases

DMDM209572761.

Proteomic databases

PaxDbQ8TF62.
PRIDEQ8TF62.

Protocols and materials databases

DNASU79895.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284509; ENSP00000284509; ENSG00000104043.
ENST00000559829; ENSP00000453169; ENSG00000104043.
GeneID79895.
KEGGhsa:79895.
UCSCuc001zxu.3. human.

Organism-specific databases

CTD79895.
GeneCardsGC15M050150.
HGNCHGNC:13536. ATP8B4.
HPAHPA040254.
MIM609123. gene.
neXtProtNX_Q8TF62.
PharmGKBPA25169.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0474.
HOGENOMHOG000202528.
HOVERGENHBG050601.
InParanoidQ8TF62.
KOK01530.
OMAQNSMDCP.
OrthoDBEOG7RRF68.
PhylomeDBQ8TF62.
TreeFamTF300654.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8TF62.
BgeeQ8TF62.
CleanExHS_ATP8B4.
GenevestigatorQ8TF62.

Family and domain databases

Gene3D2.70.150.10. 2 hits.
3.40.1110.10. 2 hits.
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. 2 hits.
PROSITEPS00154. ATPASE_E1_E2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSATP8B4. human.
GenomeRNAi79895.
NextBio69726.
PROQ8TF62.
SOURCESearch...

Entry information

Entry nameAT8B4_HUMAN
AccessionPrimary (citable) accession number: Q8TF62
Secondary accession number(s): Q9H727
Entry history
Integrated into UniProtKB/Swiss-Prot: April 30, 2003
Last sequence update: October 14, 2008
Last modified: July 9, 2014
This is version 115 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 15

Human chromosome 15: entries, gene names and cross-references to MIM