Q9UHJ9 (PGAP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Post-GPI attachment to proteins factor 2

Alternative name(s):
FGF receptor-activating protein 1

Gene names

Name:	PGAP2
Synonyms:	FRAG1

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	315 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface By similarity.
Subunit structure	Interacts with PGAP2IP By similarity.
Subcellular location	Golgi apparatus membrane; Multi-pass membrane protein By similarity. Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Ubiquitously expressed, with highest levels in testis and pancreas. Ref.1
Sequence similarities	Belongs to the PGAP2 family.

Ontologies

Keywords
Biological process	GPI-anchor biosynthesis
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	GPI anchor biosynthetic process Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process Inferred from electronic annotation. Source: Compara signal transduction in response to DNA damage Inferred from electronic annotation. Source: Compara
Cellular_component	Golgi membrane Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum membrane Inferred from sequence or structural similarity. Source: UniProtKB integral to membrane Traceable author statement Ref.1. Source: ProtInc nucleus Inferred from electronic annotation. Source: Compara
Molecular_function	protein transporter activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UHJ9-1)

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: Q9UHJ9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     56-116: Missing.

Isoform 3 (identifier: Q9UHJ9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     56-116: Missing.
     233-236: Missing.

Isoform 4 (identifier: Q9UHJ9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     56-116: Missing.
     237-293: DRKSYSWKQR...VVLTNMAFHM → VRSIPSGGSK...GCLLSAQHVL
     294-315: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 315	315	Post-GPI attachment to proteins factor 2		PRO_0000326094
Regions
	Transmembrane	24 – 44	21	Helical; Potential
	Transmembrane	85 – 105	21	Helical; Potential
	Transmembrane	176 – 196	21	Helical; Potential
	Transmembrane	205 – 225	21	Helical; Potential
	Transmembrane	247 – 267	21	Helical; Potential
	Transmembrane	271 – 291	21	Helical; Potential
Natural variations
	Alternative sequence	56 – 116	61	Missing in isoform 2, isoform 3 and isoform 4.		VSP_032550
	Alternative sequence	233 – 236	4	Missing in isoform 3.		VSP_032551
	Alternative sequence	237 – 293	57	DRKSY…MAFHM → VRSIPSGGSKAAQKKIKDIC PQDSGSQVLQLETAALHHQL HLLLLGAGCLLSAQHVL in isoform 4.		VSP_045984
	Alternative sequence	294 – 315	22	Missing in isoform 4.		VSP_045985
Experimental info
	Sequence conflict	134	1	Q → H in AAF19156. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 64F89733A1F6270E	FASTA	315	36,417
	10 20 30 40 50 60 MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT ATHCGATPCR 70 80 90 100 110 120 MFSAASQPLD PDGTLFRLRF TAMVWWAITF PVFGFFFCII WSLVFHFEYT VATDCGVPNY 130 140 150 160 170 180 LPSVSSAIGG EVPQRYVWRF CIGLHSAPRF LVAFAYWNHY LSCTSPCSCY RPLCRLNFGL 190 200 210 220 230 240 NVVENLALLV LTYVSSSEDF TIHENAFIVF IASSLGHMLL TCILWRLTKK HTVSQEDRKS 250 260 270 280 290 300 YSWKQRLFII NFISFFSALA VYFRHNMYCE AGVYTIFAIL EYTVVLTNMA FHMTAWWDFG 310 NKELLITSQP EEKRF
	Isoform 2 [UniParc]. Checksum: 2FB502D505DCCF64	FASTA	254	29,400
	10 20 30 40 50 60 MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT ATHCGVPNYL 70 80 90 100 110 120 PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL SCTSPCSCYR PLCRLNFGLN 130 140 150 160 170 180 VVENLALLVL TYVSSSEDFT IHENAFIVFI ASSLGHMLLT CILWRLTKKH TVSQEDRKSY 190 200 210 220 230 240 SWKQRLFIIN FISFFSALAV YFRHNMYCEA GVYTIFAILE YTVVLTNMAF HMTAWWDFGN 250 KELLITSQPE EKRF
	Isoform 3 [UniParc]. Checksum: 6B8A396B2A362942	FASTA	250	28,957
	10 20 30 40 50 60 MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT ATHCGVPNYL 70 80 90 100 110 120 PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL SCTSPCSCYR PLCRLNFGLN 130 140 150 160 170 180 VVENLALLVL TYVSSSEDFT IHENAFIVFI ASSLGHMLLT CILWRLTKKH TDRKSYSWKQ 190 200 210 220 230 240 RLFIINFISF FSALAVYFRH NMYCEAGVYT IFAILEYTVV LTNMAFHMTA WWDFGNKELL 250 ITSQPEEKRF
	Isoform 4 [UniParc]. Checksum: 4D03E66290A066A2	FASTA	232	25,834
	10 20 30 40 50 60 MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT ATHCGVPNYL 70 80 90 100 110 120 PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL SCTSPCSCYR PLCRLNFGLN 130 140 150 160 170 180 VVENLALLVL TYVSSSEDFT IHENAFIVFI ASSLGHMLLT CILWRLTKKH TVSQEVRSIP 190 200 210 220 230 SGGSKAAQKK IKDICPQDSG SQVLQLETAA LHHQLHLLLL GAGCLLSAQH VL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer." Lorenzi M.V., Castagnino P., Aaronson D.C., Lieb D.C., Lee C.C., Keck C.L., Popescu N.C., Miki T. Genomics 62:59-66(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Placenta.
[3]	Zhou G., Yu R., Zhong G., Li H., Shen C., Zheng G., Ke R., Lin L., Yang S. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]	"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] (ISOFORM 1). Tissue: Mammary gland.
[5]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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] (ISOFORM 3). Tissue: Kidney.
[8]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-55. Tissue: Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF159615 mRNA. Translation: AAF12755.1. BX379511 mRNA. No translation available. AY373030 mRNA. Translation: AAQ75733.1. AF159621 , AF159616, AF159617, AF159618, AF159619, AF159620 Genomic DNA. Translation: AAF19156.1. AK292181 mRNA. Translation: BAF84870.1. AC090587 Genomic DNA. No translation available. CH471158 Genomic DNA. Translation: EAX02569.1. CH471158 Genomic DNA. Translation: EAX02568.1. CH471158 Genomic DNA. Translation: EAX02571.1. BC009930 mRNA. Translation: AAH09930.1. AL096753 mRNA. Translation: CAB46428.3.
IPI	IPI00383797. IPI00888091. IPI00979428. IPI01018818.
PIR	T12505.
RefSeq	NP_001138910.1. NM_001145438.2. NP_001243164.1. NM_001256235.1. NP_001243165.1. NM_001256236.1. NP_001243166.1. NM_001256237.1. NP_001243167.1. NM_001256238.1. NP_001243168.1. NM_001256239.1. NP_001243169.1. NM_001256240.1. NP_055304.1. NM_014489.3.
UniGene	Hs.133968.
3D structure databases
ProteinModelPortal	Q9UHJ9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000278243.
Polymorphism databases
DMDM	74720826.
Proteomic databases
PaxDb	Q9UHJ9.
PRIDE	Q9UHJ9.
Protocols and materials databases
DNASU	27315.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278243; ENSP00000278243; ENSG00000148985. ENST00000396991; ENSP00000380188; ENSG00000148985. ENST00000463452; ENSP00000435223; ENSG00000148985. ENST00000493547; ENSP00000431851; ENSG00000148985.
GeneID	27315.
KEGG	hsa:27315.
UCSC	uc001lyl.3. human. uc021qcm.1. human.
Organism-specific databases
CTD	27315.
GeneCards	GC11P003818.
H-InvDB	HIX0009378.
HGNC	HGNC:17893. PGAP2.
neXtProt	NX_Q9UHJ9.
PharmGKB	PA165543520.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG309644.
HOGENOM	HOG000006821.
HOVERGEN	HBG053417.
InParanoid	Q9UHJ9.
PhylomeDB	Q9UHJ9.
Gene expression databases
ArrayExpress	Q9UHJ9.
Bgee	Q9UHJ9.
Genevestigator	Q9UHJ9.
Family and domain databases
InterPro	IPR019402. Frag1/DRAM/Sfk1. [Graphical view]
Pfam	PF10277. Frag1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27315.
NextBio	50319.

Entry information

Entry name

PGAP2_HUMAN

Accession

Primary (citable) accession number: Q9UHJ9
Secondary accession number(s): E9PJG5 , Q6UC77, Q96G66, Q9UF01, Q9Y4N1

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	May 1, 2000
Last modified:	April 3, 2013
This is version 70 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.