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Q9UHJ9

- PGAP2_HUMAN

UniProt

Q9UHJ9 - PGAP2_HUMAN

Protein

Post-GPI attachment to proteins factor 2

Gene

PGAP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 2 (18 Sep 2013)
      Previous versions | rss
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    Functioni

    Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface By similarity.By similarity

    GO - Molecular functioni

    1. protein transporter activity Source: UniProtKB

    GO - Biological processi

    1. GPI anchor biosynthetic process Source: UniProtKB
    2. intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: Ensembl
    3. negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage Source: Ensembl
    4. signal transduction in response to DNA damage Source: Ensembl

    Keywords - Biological processi

    GPI-anchor biosynthesis

    Protein family/group databases

    TCDBi9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Post-GPI attachment to proteins factor 2
    Alternative name(s):
    FGF receptor-activating protein 1
    Gene namesi
    Name:PGAP2
    Synonyms:FRAG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:17893. PGAP2.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB
    2. Golgi membrane Source: UniProtKB
    3. integral component of membrane Source: ProtInc
    4. nucleus Source: Ensembl

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161R → W in HPMRS3. 1 Publication
    VAR_069664
    Natural varianti99 – 991Y → C in HPMRS3. 1 Publication
    VAR_069665
    Natural varianti127 – 1271L → S in HPMRS3. 1 Publication
    VAR_069666
    Natural varianti160 – 1601T → I in HPMRS3. 1 Publication
    VAR_069667
    Natural varianti177 – 1771R → P in HPMRS3. 1 Publication
    VAR_069668

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi614207. phenotype.
    Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
    PharmGKBiPA165543520.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 254254Post-GPI attachment to proteins factor 2PRO_0000326094Add
    BLAST

    Proteomic databases

    MaxQBiQ9UHJ9.
    PaxDbiQ9UHJ9.
    PRIDEiQ9UHJ9.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed, with highest levels in testis and pancreas.1 Publication

    Gene expression databases

    ArrayExpressiQ9UHJ9.
    BgeeiQ9UHJ9.
    GenevestigatoriQ9UHJ9.

    Organism-specific databases

    HPAiHPA063099.

    Interactioni

    Subunit structurei

    Interacts with PGAP2IP.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000278243.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHJ9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2323CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini45 – 11470LumenalSequence AnalysisAdd
    BLAST
    Topological domaini136 – 1438CytoplasmicSequence Analysis
    Topological domaini165 – 18521LumenalSequence AnalysisAdd
    BLAST
    Topological domaini207 – 2093CytoplasmicSequence Analysis
    Topological domaini231 – 25424LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei24 – 4421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei144 – 16421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei186 – 20621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei210 – 23021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the PGAP2 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG309644.
    HOGENOMiHOG000006821.
    HOVERGENiHBG053417.
    InParanoidiQ9UHJ9.
    TreeFamiTF314112.

    Family and domain databases

    InterProiIPR019402. Frag1/DRAM/Sfk1.
    [Graphical view]
    PfamiPF10277. Frag1. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 2 (identifier: Q9UHJ9-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT    50
    ATHCGVPNYL PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL 100
    SCTSPCSCYR PLCRLNFGLN VVENLALLVL TYVSSSEDFT IHENAFIVFI 150
    ASSLGHMLLT CILWRLTKKH TVSQEDRKSY SWKQRLFIIN FISFFSALAV 200
    YFRHNMYCEA GVYTIFAILE YTVVLTNMAF HMTAWWDFGN KELLITSQPE 250
    EKRF 254
    Length:254
    Mass (Da):29,400
    Last modified:September 18, 2013 - v2
    Checksum:i2FB502D505DCCF64
    GO
    Isoform 1 (identifier: Q9UHJ9-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:315
    Mass (Da):36,417
    Checksum:i64F89733A1F6270E
    GO
    Isoform 3 (identifier: Q9UHJ9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         172-175: Missing.

    Show »
    Length:250
    Mass (Da):28,957
    Checksum:i6B8A396B2A362942
    GO
    Isoform 4 (identifier: Q9UHJ9-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:232
    Mass (Da):25,834
    Checksum:i4D03E66290A066A2
    GO
    Isoform 5 (identifier: Q9UHJ9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MARLGSTGGVSGRVVTQHRDSAPFLGAPRLGLRELGPIRGTAPEWHGRWNAAERSDKM
         172-175: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:307
    Mass (Da):35,076
    Checksum:i93344EC2DB02D17A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti73 – 731Q → H in AAF19156. (PubMed:10585768)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161R → W in HPMRS3. 1 Publication
    VAR_069664
    Natural varianti99 – 991Y → C in HPMRS3. 1 Publication
    VAR_069665
    Natural varianti127 – 1271L → S in HPMRS3. 1 Publication
    VAR_069666
    Natural varianti160 – 1601T → I in HPMRS3. 1 Publication
    VAR_069667
    Natural varianti177 – 1771R → P in HPMRS3. 1 Publication
    VAR_069668

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MARLGSTGGVSGRVVTQHRD SAPFLGAPRLGLRELGPIRG TAPEWHGRWNAAERSDKM in isoform 5. CuratedVSP_053800
    Alternative sequencei55 – 551G → GATPCRMFSAASQPLDPDGT LFRLRFTAMVWWAITFPVFG FFFCIIWSLVFHFEYTVATD CG in isoform 1. 2 PublicationsVSP_032550
    Alternative sequencei172 – 1754Missing in isoform 3 and isoform 5. 1 PublicationVSP_032551
    Alternative sequencei176 – 23257DRKSY…MAFHM → VRSIPSGGSKAAQKKIKDIC PQDSGSQVLQLETAALHHQL HLLLLGAGCLLSAQHVL in isoform 4. 1 PublicationVSP_045984Add
    BLAST
    Alternative sequencei233 – 25422Missing in isoform 4. 1 PublicationVSP_045985Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS44523.1. [Q9UHJ9-5]
    CCDS58112.1. [Q9UHJ9-1]
    CCDS58113.1. [Q9UHJ9-4]
    CCDS7747.1. [Q9UHJ9-2]
    PIRiT12505.
    RefSeqiNP_001138910.1. NM_001145438.2. [Q9UHJ9-5]
    NP_001243164.1. NM_001256235.1.
    NP_001243165.1. NM_001256236.1.
    NP_001243166.1. NM_001256237.1.
    NP_001243167.1. NM_001256238.1. [Q9UHJ9-4]
    NP_001243168.1. NM_001256239.1. [Q9UHJ9-3]
    NP_001243169.1. NM_001256240.1. [Q9UHJ9-1]
    NP_001269967.1. NM_001283038.1.
    NP_001269968.1. NM_001283039.1.
    NP_001269969.1. NM_001283040.1.
    NP_055304.1. NM_014489.3. [Q9UHJ9-2]
    XP_006718253.1. XM_006718190.1. [Q9UHJ9-1]
    XP_006718254.1. XM_006718191.1. [Q9UHJ9-3]
    UniGeneiHs.133968.

    Genome annotation databases

    EnsembliENST00000278243; ENSP00000278243; ENSG00000148985. [Q9UHJ9-2]
    ENST00000300730; ENSP00000300730; ENSG00000148985. [Q9UHJ9-5]
    ENST00000396991; ENSP00000380188; ENSG00000148985. [Q9UHJ9-2]
    ENST00000463452; ENSP00000435223; ENSG00000148985. [Q9UHJ9-1]
    ENST00000493547; ENSP00000431851; ENSG00000148985. [Q9UHJ9-4]
    GeneIDi27315.
    KEGGihsa:27315.
    UCSCiuc001lyl.4. human. [Q9UHJ9-1]
    uc021qcm.2. human. [Q9UHJ9-2]
    uc031pyo.1. human. [Q9UHJ9-3]

    Polymorphism databases

    DMDMi544584767.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS44523.1. [Q9UHJ9-5 ]
    CCDS58112.1. [Q9UHJ9-1 ]
    CCDS58113.1. [Q9UHJ9-4 ]
    CCDS7747.1. [Q9UHJ9-2 ]
    PIRi T12505.
    RefSeqi NP_001138910.1. NM_001145438.2. [Q9UHJ9-5 ]
    NP_001243164.1. NM_001256235.1.
    NP_001243165.1. NM_001256236.1.
    NP_001243166.1. NM_001256237.1.
    NP_001243167.1. NM_001256238.1. [Q9UHJ9-4 ]
    NP_001243168.1. NM_001256239.1. [Q9UHJ9-3 ]
    NP_001243169.1. NM_001256240.1. [Q9UHJ9-1 ]
    NP_001269967.1. NM_001283038.1.
    NP_001269968.1. NM_001283039.1.
    NP_001269969.1. NM_001283040.1.
    NP_055304.1. NM_014489.3. [Q9UHJ9-2 ]
    XP_006718253.1. XM_006718190.1. [Q9UHJ9-1 ]
    XP_006718254.1. XM_006718191.1. [Q9UHJ9-3 ]
    UniGenei Hs.133968.

    3D structure databases

    ProteinModelPortali Q9UHJ9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000278243.

    Protein family/group databases

    TCDBi 9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

    Polymorphism databases

    DMDMi 544584767.

    Proteomic databases

    MaxQBi Q9UHJ9.
    PaxDbi Q9UHJ9.
    PRIDEi Q9UHJ9.

    Protocols and materials databases

    DNASUi 27315.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000278243 ; ENSP00000278243 ; ENSG00000148985 . [Q9UHJ9-2 ]
    ENST00000300730 ; ENSP00000300730 ; ENSG00000148985 . [Q9UHJ9-5 ]
    ENST00000396991 ; ENSP00000380188 ; ENSG00000148985 . [Q9UHJ9-2 ]
    ENST00000463452 ; ENSP00000435223 ; ENSG00000148985 . [Q9UHJ9-1 ]
    ENST00000493547 ; ENSP00000431851 ; ENSG00000148985 . [Q9UHJ9-4 ]
    GeneIDi 27315.
    KEGGi hsa:27315.
    UCSCi uc001lyl.4. human. [Q9UHJ9-1 ]
    uc021qcm.2. human. [Q9UHJ9-2 ]
    uc031pyo.1. human. [Q9UHJ9-3 ]

    Organism-specific databases

    CTDi 27315.
    GeneCardsi GC11P003818.
    H-InvDB HIX0009378.
    HGNCi HGNC:17893. PGAP2.
    HPAi HPA063099.
    MIMi 614207. phenotype.
    615187. gene.
    neXtProti NX_Q9UHJ9.
    Orphaneti 247262. Hyperphosphatasia-intellectual disability syndrome.
    PharmGKBi PA165543520.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309644.
    HOGENOMi HOG000006821.
    HOVERGENi HBG053417.
    InParanoidi Q9UHJ9.
    TreeFami TF314112.

    Miscellaneous databases

    GenomeRNAii 27315.
    NextBioi 50319.
    PROi Q9UHJ9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHJ9.
    Bgeei Q9UHJ9.
    Genevestigatori Q9UHJ9.

    Family and domain databases

    InterProi IPR019402. Frag1/DRAM/Sfk1.
    [Graphical view ]
    Pfami PF10277. Frag1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. 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. 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.

    Entry informationi

    Entry nameiPGAP2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHJ9
    Secondary accession number(s): E9PJG5
    , H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9Y4N1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: September 18, 2013
    Last modified: October 1, 2014
    This is version 85 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3