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Q9UHJ9 (PGAP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 80. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Post-GPI attachment to proteins factor 2
Alternative name(s):
FGF receptor-activating protein 1
Gene names
Name:PGAP2
Synonyms:FRAG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length254 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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

Involvement in disease

Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]: An autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10

Sequence similarities

Belongs to the PGAP2 family.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (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 1 (identifier: Q9UHJ9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     55-55: G → GATPCRMFSAASQPLDPDGTLFRLRFTAMVWWAITFPVFGFFFCIIWSLVFHFEYTVATDCG
Note: This isoform is predicted to contain an additional transmembrane domain at position 85-105. If this domain exists, the topology of the protein would be modified, possibly challenging the GPI-anchor remodeling function of the protein.
Isoform 3 (identifier: Q9UHJ9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     172-175: Missing.
Isoform 4 (identifier: Q9UHJ9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     176-232: DRKSYSWKQR...VVLTNMAFHM → VRSIPSGGSK...GCLLSAQHVL
     233-254: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9UHJ9-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MARLGSTGGVSGRVVTQHRDSAPFLGAPRLGLRELGPIRGTAPEWHGRWNAAERSDKM
     172-175: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 254254Post-GPI attachment to proteins factor 2
PRO_0000326094

Regions

Topological domain1 – 2323Cytoplasmic Potential
Transmembrane24 – 4421Helical; Potential
Topological domain45 – 11470Lumenal Potential
Transmembrane115 – 13521Helical; Potential
Topological domain136 – 1438Cytoplasmic Potential
Transmembrane144 – 16421Helical; Potential
Topological domain165 – 18521Lumenal Potential
Transmembrane186 – 20621Helical; Potential
Topological domain207 – 2093Cytoplasmic Potential
Transmembrane210 – 23021Helical; Potential
Topological domain231 – 25424Lumenal Potential

Natural variations

Alternative sequence11M → MARLGSTGGVSGRVVTQHRD SAPFLGAPRLGLRELGPIRG TAPEWHGRWNAAERSDKM in isoform 5.
VSP_053800
Alternative sequence551G → GATPCRMFSAASQPLDPDGT LFRLRFTAMVWWAITFPVFG FFFCIIWSLVFHFEYTVATD CG in isoform 1.
VSP_032550
Alternative sequence172 – 1754Missing in isoform 3 and isoform 5.
VSP_032551
Alternative sequence176 – 23257DRKSY…MAFHM → VRSIPSGGSKAAQKKIKDIC PQDSGSQVLQLETAALHHQL HLLLLGAGCLLSAQHVL in isoform 4.
VSP_045984
Alternative sequence233 – 25422Missing in isoform 4.
VSP_045985
Natural variant161R → W in HPMRS3. Ref.10
VAR_069664
Natural variant991Y → C in HPMRS3. Ref.9
VAR_069665
Natural variant1271L → S in HPMRS3. Ref.10
VAR_069666
Natural variant1601T → I in HPMRS3. Ref.10
VAR_069667
Natural variant1771R → P in HPMRS3. Ref.9
VAR_069668

Experimental info

Sequence conflict731Q → H in AAF19156. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified September 18, 2013. Version 2.
Checksum: 2FB502D505DCCF64

FASTA25429,400
        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 

« Hide

Isoform 1 [UniParc].

Checksum: 64F89733A1F6270E
Show »

FASTA31536,417
Isoform 3 [UniParc].

Checksum: 6B8A396B2A362942
Show »

FASTA25028,957
Isoform 4 [UniParc].

Checksum: 4D03E66290A066A2
Show »

FASTA23225,834
Isoform 5 [UniParc].

Checksum: 93344EC2DB02D17A
Show »

FASTA30735,076

References

« Hide '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. 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] (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. expand/collapse author list , 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. expand/collapse author list , 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.
[9]"Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability."
Hansen L., Tawamie H., Murakami Y., Mang Y., ur Rehman S., Buchert R., Schaffer S., Muhammad S., Bak M., Nothen M.M., Bennett E.P., Maeda Y., Aigner M., Reis A., Kinoshita T., Tommerup N., Baig S.M., Abou Jamra R.
Am. J. Hum. Genet. 92:575-583(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HPMRS3 CYS-99 AND PRO-177, TOPOLOGY.
[10]"PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome."
Krawitz P.M., Murakami Y., Riess A., Hietala M., Kruger U., Zhu N., Kinoshita T., Mundlos S., Hecht J., Robinson P.N., Horn D.
Am. J. Hum. Genet. 92:584-589(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HPMRS3 TRP-16; SER-127 AND ILE-160.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF159615 mRNA. Translation: AAF12755.1.
BX379511 mRNA. No translation available.
AY373030 mRNA. Translation: AAQ75733.1.
AF159621 expand/collapse EMBL AC list , 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.
PIRT12505.
RefSeqNP_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_001269967.1. NM_001283038.1.
NP_001269968.1. NM_001283039.1.
NP_001269969.1. NM_001283040.1.
NP_055304.1. NM_014489.3.
UniGeneHs.133968.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000278243.

Protein family/group databases

TCDB9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

Polymorphism databases

DMDM544584767.

Proteomic databases

PaxDbQ9UHJ9.
PRIDEQ9UHJ9.

Protocols and materials databases

DNASU27315.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278243; ENSP00000278243; ENSG00000148985. [Q9UHJ9-2]
ENST00000300730; ENSP00000300730; ENSG00000148985.
ENST00000396991; ENSP00000380188; ENSG00000148985. [Q9UHJ9-2]
ENST00000463452; ENSP00000435223; ENSG00000148985. [Q9UHJ9-1]
ENST00000493547; ENSP00000431851; ENSG00000148985. [Q9UHJ9-4]
GeneID27315.
KEGGhsa:27315.
UCSCuc001lyl.4. human. [Q9UHJ9-1]
uc021qcm.2. human. [Q9UHJ9-2]
uc031pyo.1. human. [Q9UHJ9-3]

Organism-specific databases

CTD27315.
GeneCardsGC11P003818.
H-InvDBHIX0009378.
HGNCHGNC:17893. PGAP2.
HPAHPA063099.
MIM614207. phenotype.
615187. gene.
neXtProtNX_Q9UHJ9.
Orphanet247262. Hyperphosphatasia-intellectual deficiency syndrome.
PharmGKBPA165543520.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309644.
HOGENOMHOG000006821.
HOVERGENHBG053417.
InParanoidQ9UHJ9.
TreeFamTF314112.

Gene expression databases

ArrayExpressQ9UHJ9.
BgeeQ9UHJ9.
GenevestigatorQ9UHJ9.

Family and domain databases

InterProIPR019402. Frag1/DRAM/Sfk1.
[Graphical view]
PfamPF10277. Frag1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi27315.
NextBio50319.
PROQ9UHJ9.
SOURCESearch...

Entry information

Entry namePGAP2_HUMAN
AccessionPrimary (citable) accession number: Q9UHJ9
Secondary accession number(s): E9PJG5 expand/collapse secondary AC list , H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9Y4N1
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 18, 2013
Last modified: April 16, 2014
This is version 80 of the entry and version 2 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 11

Human chromosome 11: entries, gene names and cross-references to MIM