Q8NBV4 (PPAC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable lipid phosphate phosphatase PPAPDC3
EC=3.1.3.-

Alternative name(s):
Phosphatidic acid phosphatase type 2 domain-containing protein 3

Gene names

Name:	PPAPDC3
Synonyms:	C9orf67

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	271 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity By similarity.
Subunit structure	Homo and heterooligomer. Interacts with MTOR; controls MTOR-dependent IGF2 expression during myoblast differentiation By similarity.
Subcellular location	Nucleus envelope. Endoplasmic reticulum membrane. Membrane; Multi-pass membrane protein. Note: Both the N- and C-terminal are exposed to the cytoplasm/nucleoplasm By similarity.
Sequence similarities	Belongs to the PA-phosphatase related phosphoesterase family.
Sequence caution	The sequence CAI16274.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Nucleus
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	metabolic process Inferred from electronic annotation. Source: GOC negative regulation of myotube differentiation Inferred from electronic annotation. Source: Compara
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nuclear envelope Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 271	271	Probable lipid phosphate phosphatase PPAPDC3		PRO_0000239401
Regions
	Topological domain	1 – 112	112	Cytoplasmic Potential
	Transmembrane	113 – 133	21	Helical; Potential
	Topological domain	134 – 141	8	Extracellular Potential
	Transmembrane	142 – 162	21	Helical; Potential
	Topological domain	163 – 202	40	Cytoplasmic Potential
	Transmembrane	203 – 223	21	Helical; Potential
	Topological domain	224 – 239	16	Extracellular Potential
	Transmembrane	240 – 260	21	Helical; Potential
	Topological domain	261 – 271	11	Cytoplasmic Potential
	Region	70 – 91	22	interaction with MTOR By similarity
Natural variations
	Natural variant	174	1	T → M. Ref.4 Corresponds to variant rs2966332 [ dbSNP | Ensembl ].		VAR_026646
	Natural variant	267	1	L → V. Corresponds to variant rs11244366 [ dbSNP | Ensembl ].		VAR_026647
Experimental info
	Sequence conflict	203	1	F → Y in BAB55204. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8NBV4 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 1AE74180CDCD1A11	FASTA	271	29,448
	10 20 30 40 50 60 MPASQSRARA RDRNNVLNRA EFLSLNQPPK GGPEPRSSGR KASGPSAQPP PAGDGARERR 70 80 90 100 110 120 QSQQLPEEDC MQLNPSFKGI AFNSLLAIDI CMSKRLGVCA GRAASWASAR SMVKLIGITG 130 140 150 160 170 180 HGIPWIGGTI LCLVKSSTLA GQEVLMNLLL ALLLDIMTVA GVQKLIKRRG PYETSPSLLD 190 200 210 220 230 240 YLTMDIYAFP AGHASRAAMV SKFFLSHLVL AVPLRVLLVL WALCVGLSRV MIGRHHVTDV 250 260 270 LSGFVIGYLQ FRLVELVWMP SSTCQMLISA W

References

[1]	"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]. Tissue: Teratocarcinoma.
[2]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-174. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK027568 mRNA. Translation: BAB55204.1. AK075207 mRNA. Translation: BAC11472.1. AL354855 Genomic DNA. Translation: CAI16274.1. Sequence problems. AL354855 Genomic DNA. Translation: CAI16275.1. BC006362 mRNA. Translation: AAH06362.2.
IPI	IPI00168333.
RefSeq	NP_116117.3. NM_032728.3.
UniGene	Hs.134292.
3D structure databases
ProteinModelPortal	Q8NBV4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000361338.
PTM databases
PhosphoSite	Q8NBV4.
Polymorphism databases
DMDM	74751178.
Proteomic databases
PaxDb	Q8NBV4.
PRIDE	Q8NBV4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372261; ENSP00000361335; ENSG00000160539. ENST00000372264; ENSP00000361338; ENSG00000160539.
GeneID	84814.
KEGG	hsa:84814.
UCSC	uc004cal.2. human.
Organism-specific databases
CTD	84814.
GeneCards	GC09P134165.
HGNC	HGNC:28174. PPAPDC3.
neXtProt	NX_Q8NBV4.
PharmGKB	PA134931886.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG121460.
HOGENOM	HOG000231931.
HOVERGEN	HBG054746.
InParanoid	Q8NBV4.
OMA	LWAFCVG.
OrthoDB	EOG4FR0SG.
PhylomeDB	Q8NBV4.
Gene expression databases
Bgee	Q8NBV4.
CleanEx	HS_PPAPDC3.
Genevestigator	Q8NBV4.
GermOnline	ENSG00000160539. Homo sapiens.
Family and domain databases
Gene3D	1.20.144.10. 1 hit.
InterPro	IPR016118. P_Acid_Pase/Cl_peroxidase_N. IPR000326. P_Acid_Pase_2/haloperoxidase. [Graphical view]
Pfam	PF01569. PAP2. 1 hit. [Graphical view]
SMART	SM00014. acidPPc. 1 hit. [Graphical view]
SUPFAM	SSF48317. AcPase_VanPerase. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	PPAPDC3. human.
GenomeRNAi	84814.
NextBio	75001.

Entry information

Entry name

PPAC3_HUMAN

Accession

Primary (citable) accession number: Q8NBV4
Secondary accession number(s): Q5T6P0, Q96SS7, Q9BRC3

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 13, 2006
Last sequence update:	October 1, 2002
Last modified:	April 3, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.