Reviewed, UniProtKB/Swiss-Prot Q8TF62 (AT8B4_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable phospholipid-transporting ATPase IM
    EC=3.6.3.1
Alternative name(s):
    ATPase class I type 8B member 4

Gene names

Name:	ATP8B4
Synonyms:	KIAA1939

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1192 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(Out).
Subcellular location	Membrane; Multi-pass membrane protein.
Tissue specificity	Ubiquitously expressed at moderate levels.
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type IV subfamily.
Sequence caution	The sequence BAB15072.1 differs from that shown. Reason: Frameshift at position 997. The sequence BAB85525.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Sequence of unknown origin inserted in the coding sequence.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro phospholipid transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism Inferred from electronic annotation. Source: InterPro magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW phospholipid-translocating ATPase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1192	1192	Probable phospholipid-transporting ATPase IM		PRO_0000046368
Regions
	Topological domain	1 – 44	44	Cytoplasmic Potential
	Transmembrane	45 – 66	22	Potential
	Topological domain	67 – 72	6	Extracellular Potential
	Transmembrane	73 – 92	20	Potential
	Topological domain	93 – 276	184	Cytoplasmic Potential
	Transmembrane	277 – 298	22	Potential
	Topological domain	299 – 327	29	Extracellular Potential
	Transmembrane	328 – 349	22	Potential
	Topological domain	350 – 871	522	Cytoplasmic Potential
	Transmembrane	872 – 892	21	Potential
	Topological domain	893 – 904	12	Extracellular Potential
	Transmembrane	905 – 924	20	Potential
	Topological domain	925 – 954	30	Cytoplasmic Potential
	Transmembrane	955 – 976	22	Potential
	Topological domain	977 – 990	14	Extracellular Potential
	Transmembrane	991 – 1013	23	Potential
	Topological domain	1014 – 1019	6	Cytoplasmic Potential
	Transmembrane	1020 – 1040	21	Potential
	Topological domain	1041 – 1060	20	Extracellular Potential
	Transmembrane	1061 – 1085	25	Potential
	Topological domain	1086 – 1192	107	Cytoplasmic Potential
Sites
	Active site	392	1	4-aspartylphosphate intermediate By similarity
	Metal binding	815	1	Magnesium By similarity
	Metal binding	819	1	Magnesium By similarity
Natural variations
	Natural variant	225	1	N → S: dbSNP rs16963151.		VAR_046962
	Natural variant	452	1	H → N: dbSNP rs2452524.		VAR_046963
	Natural variant	1165	1	N → K: dbSNP rs16962989.		VAR_046964
	Natural variant	1190	1	V → G: dbSNP rs16962987.		VAR_046965
Experimental info
	Sequence conflict	631	1	G → E in BAB85525. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8TF62-1 [UniParc]. Last modified October 14, 2008. Version 3. Checksum: FFE8D935B7544D73	FASTA	1,192	135,868
	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

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: 11853319] [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: 16572171] [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 907-1192. Tissue: Colon.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00152868.
RefSeq	NP_079113.2.
UniGene	Hs.511311
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q8TF62.
Proteomic databases
PRIDE	Q8TF62.
Genome annotation databases
Ensembl	ENSG00000104043. Homo sapiens. [Contig view]
GeneID	79895.
KEGG	hsa:79895.
UCSC	uc001zxu.1. human.
Organism-specific databases
GeneCards	GC15M047937.
HGNC	HGNC:13536. ATP8B4.
MIM	609123. gene.
PharmGKB	PA25169.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8TF62.
HOVERGEN	Q8TF62.
OMA	Q8TF62. YSALAFT.
Enzyme and pathway databases
BRENDA	3.6.3.1. 247.
Gene expression databases
ArrayExpress	Q8TF62.
Bgee	Q8TF62.
CleanEx	HS_ATP8B4.
GermOnline	ENSG00000104043. Homo sapiens.
Family and domain databases
InterPro	IPR008250. ATPase_P-typ_ATPase-assoc-reg. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_phosphor_site. IPR006539. ATPase_P-typ_Plipid-transl. IPR013200. HAD-SF_hydro-like_3. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. PF08282. Hydrolase_3. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
TIGRFAMs	TIGR01652. ATPase-Plipid. 1 hit. TIGR01494. ATPase_P-type. 4 hits.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	69726.
SOURCE	Search...

Entry information

Entry name

AT8B4_HUMAN

Accession

Primary (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 7, 2009
This is version 67 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)