Q96JA3 (PKHA8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pleckstrin homology domain-containing family A member 8
Short name=PH domain-containing family A member 8

Alternative name(s):
Phosphatidylinositol-four-phosphate adapter protein 2
Short name=FAPP-2
Short name=Phosphoinositol 4-phosphate adapter protein 2
Short name=hFAPP2
Serologically defined breast cancer antigen NY-BR-86

Gene names

Name:	PLEKHA8
Synonyms:	FAPP2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	519 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in TGN-to-plasma membrane transport and in the formation of post-Golgi constitutive carriers. May play a role in ensuring the coordination of the budding and the fission reactions. Ref.5
Subunit structure	Interacts with phosphatidyl inositol 4-phosphate (PIP) and the GTPase ADP-ribosylation factor (ARF). Ref.5
Subcellular location	Cytoplasm. Note: Localized to perinuclear structures in the trans-Golgi network (TGN). Ref.5
Tissue specificity	Expressed in kidney cell lines. Ref.5
Domain	Interacts with PIP and ARF via plekstrin homology domain.
Sequence similarities	Contains 1 PH domain.
Sequence caution	The sequence AAG48267.1 differs from that shown. Reason: Erroneous initiation. The sequence AAK55424.1 differs from that shown. Reason: Erroneous termination at position 508. Translated as Tyr.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	glycolipid binding Inferred from electronic annotation. Source: InterPro glycolipid transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96JA3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96JA3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     455-455: L → V
     456-519: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96JA3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     434-439: NNAYGK → RNPTEN
     441-519: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 519	519	Pleckstrin homology domain-containing family A member 8		PRO_0000306865
Regions
	Domain	1 – 93	93	PH
Natural variations
	Alternative sequence	434 – 439	6	NNAYGK → RNPTEN in isoform 3.		VSP_028543
	Alternative sequence	441 – 519	79	Missing in isoform 3.		VSP_028544
	Alternative sequence	455	1	L → V in isoform 2.		VSP_028545
	Alternative sequence	456 – 519	64	Missing in isoform 2.		VSP_028546
	Natural variant	368	1	V → E in a breast cancer sample; somatic mutation. Ref.6		VAR_035444
Experimental info
	Sequence conflict	232	1	E → G in BAB14449. Ref.3
	Sequence conflict	287	1	T → S in AAK55424. Ref.1
	Sequence conflict	340	1	Y → C in AAK55424. Ref.1
	Sequence conflict	359 – 365	7	MDLVGNI → DGSCWKY in AAG48267. Ref.4
	Sequence conflict	363	1	G → E in AAK55424. Ref.1
	Sequence conflict	370 – 372	3	QKY → RSI in BAB14449. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 2, 2007. Version 2. Checksum: 3E2EF5479A16669E	FASTA	519	58,306
	10 20 30 40 50 60 MEGVLYKWTN YLSGWQPRWF LLCGGILSYY DSPEDAWKGC KGSIQMAVCE IQVHSVDNTR 70 80 90 100 110 120 MDLIIPGEQY FYLKARSVAE RQRWLVALGS AKACLTDSRT QKEKEFAENT ENLKTKMSEL 130 140 150 160 170 180 RLYCDLLVQQ VDKTKEVTTT GVSNSEEGID VGTLLKSTCN TFLKTLEECM QIANAAFTSE 190 200 210 220 230 240 LLYRTPPGSP QLAMLKSSKM KHPIIPIHNS LERQMELSTC ENGSLNMEIN GEEEILMKNK 250 260 270 280 290 300 NSLYLKSAEI DCSISSEENT DDNITVQGEI RKEDGMENLK NHDNNLTQSG SDSSCSPECL 310 320 330 340 350 360 WEEGKEVIPT FFSTMNTSFS DIELLEDSGI PTEAFLASCY AVVPVLDKLG PTVFAPVKMD 370 380 390 400 410 420 LVGNIKKVNQ KYITNKEEFT TLQKIVLHEV EADVAQVRNS ATEALLWLKR GLKFLKGFLT 430 440 450 460 470 480 EVKNGEKDIQ TALNNAYGKT LRQHHGWVVR GVFALALRAT PSYEDFVAAL TVKEGDHRKE 490 500 510 AFSIGMQRDL SLYLPAMKKQ MAILDALYEV HGLESDEVV
	Isoform 2 [UniParc]. Checksum: 22F40B4B22AD09E7	FASTA	455	51,141
	10 20 30 40 50 60 MEGVLYKWTN YLSGWQPRWF LLCGGILSYY DSPEDAWKGC KGSIQMAVCE IQVHSVDNTR 70 80 90 100 110 120 MDLIIPGEQY FYLKARSVAE RQRWLVALGS AKACLTDSRT QKEKEFAENT ENLKTKMSEL 130 140 150 160 170 180 RLYCDLLVQQ VDKTKEVTTT GVSNSEEGID VGTLLKSTCN TFLKTLEECM QIANAAFTSE 190 200 210 220 230 240 LLYRTPPGSP QLAMLKSSKM KHPIIPIHNS LERQMELSTC ENGSLNMEIN GEEEILMKNK 250 260 270 280 290 300 NSLYLKSAEI DCSISSEENT DDNITVQGEI RKEDGMENLK NHDNNLTQSG SDSSCSPECL 310 320 330 340 350 360 WEEGKEVIPT FFSTMNTSFS DIELLEDSGI PTEAFLASCY AVVPVLDKLG PTVFAPVKMD 370 380 390 400 410 420 LVGNIKKVNQ KYITNKEEFT TLQKIVLHEV EADVAQVRNS ATEALLWLKR GLKFLKGFLT 430 440 450 EVKNGEKDIQ TALNNAYGKT LRQHHGWVVR GVFAV
	Isoform 3 [UniParc]. Checksum: 7829E7848E8D5301	FASTA	440	49,462
	10 20 30 40 50 60 MEGVLYKWTN YLSGWQPRWF LLCGGILSYY DSPEDAWKGC KGSIQMAVCE IQVHSVDNTR 70 80 90 100 110 120 MDLIIPGEQY FYLKARSVAE RQRWLVALGS AKACLTDSRT QKEKEFAENT ENLKTKMSEL 130 140 150 160 170 180 RLYCDLLVQQ VDKTKEVTTT GVSNSEEGID VGTLLKSTCN TFLKTLEECM QIANAAFTSE 190 200 210 220 230 240 LLYRTPPGSP QLAMLKSSKM KHPIIPIHNS LERQMELSTC ENGSLNMEIN GEEEILMKNK 250 260 270 280 290 300 NSLYLKSAEI DCSISSEENT DDNITVQGEI RKEDGMENLK NHDNNLTQSG SDSSCSPECL 310 320 330 340 350 360 WEEGKEVIPT FFSTMNTSFS DIELLEDSGI PTEAFLASCY AVVPVLDKLG PTVFAPVKMD 370 380 390 400 410 420 LVGNIKKVNQ KYITNKEEFT TLQKIVLHEV EADVAQVRNS ATEALLWLKR GLKFLKGFLT 430 440 EVKNGEKDIQ TALRNPTENT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities." Dowler S.J., Currie R.A., Campbell D.G., Deak M., Kular G., Downes C.P., Alessi D.R. Biochem. J. 351:19-31(2000) [PubMed: 11001876] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Brain and Placenta.
[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 1-372.
[4]	"Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression." Scanlan M.J., Gout I., Gordon C.M., Williamson B., Stockert E., Gure A.O., Jaeger D., Chen Y.-T., Mackay A., O'Hare M.J., Old L.J. Cancer Immun. 1:4-4(2001) [PubMed: 12747765] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-365. Tissue: Mammary gland.
[5]	"FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P." Godi A., Di Campli A., Konstantakopoulos A., Di Tullio G., Alessi D.R., Kular G.S., Daniele T., Marra P., Lucocq J.M., De Matteis M.A. Nat. Cell Biol. 6:393-404(2004) [PubMed: 15107860] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH PIP AND ARF, FUNCTION, TISSUE SPECIFICITY.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-368.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF380162 mRNA. Translation: AAK55424.1. Sequence problems. BC002838 mRNA. Translation: AAH02838.1. BC053990 mRNA. Translation: AAH53990.1. AK023180 mRNA. Translation: BAB14449.1. AF308300 mRNA. Translation: AAG48267.1. Different initiation.
IPI	IPI00101877. IPI00396549. IPI00867525.
RefSeq	NP_116028.1. NM_032639.3.
UniGene	Hs.233495. Hs.558495.
3D structure databases
HSSP	HSSP built from PDB template 1SWX based on UniProtKB Q9NZD2.
ProteinModelPortal	Q96JA3.
SMR	Q96JA3. Positions 1-100, 314-519.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96JA3.
PTM databases
PhosphoSite	Q96JA3.
Polymorphism databases
DMDM	158706386.
Proteomic databases
PRIDE	Q96JA3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000440706; ENSP00000407802; ENSG00000106086. ENST00000449726; ENSP00000397947; ENSG00000106086.
GeneID	84725.
KEGG	hsa:84725.
UCSC	uc003tam.1. human. uc003tan.1. human.
Organism-specific databases
CTD	84725.
GeneCards	GC07P030034.
H-InvDB	HIX0006562. HIX0010564.
HGNC	HGNC:30037. PLEKHA8.
MIM	608639. gene.
neXtProt	NX_Q96JA3.
PharmGKB	PA134926954.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05321.
GeneTree	ENSGT00600000084362.
HOGENOM	HBG506993.
HOVERGEN	HBG108255.
InParanoid	Q96JA3.
OrthoDB	EOG4NKBVK.
PhylomeDB	Q96JA3.
Gene expression databases
ArrayExpress	Q96JA3.
Bgee	Q96JA3.
CleanEx	HS_PLEKHA8.
Genevestigator	Q96JA3.
Family and domain databases
InterPro	IPR014830. Glycolipid_transfer_prot_dom. IPR011993. PH_type. IPR001849. Pleckstrin_homology. [Graphical view]
Gene3D	G3DSA:1.10.3520.10. G3DSA:1.10.3520.10. 1 hit. G3DSA:2.30.29.30. PH_type. 1 hit.
KO	K08051.
Pfam	PF08718. GLTP. 1 hit. PF00169. PH. 1 hit. [Graphical view]
SMART	SM00233. PH. 1 hit. [Graphical view]
SUPFAM	SSF110004. Glycolipid_transfer_prot. 1 hit.
PROSITE	PS50003. PH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	74838.
SOURCE	Search...

Entry information

Entry name

PKHA8_HUMAN

Accession

Primary (citable) accession number: Q96JA3
Secondary accession number(s): Q7Z5V8 , Q9BU78, Q9H274, Q9H8Z7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	October 2, 2007
Last modified:	January 25, 2012
This is version 59 of the entry and version 2 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.