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Q9NWQ4

- GPT2L_HUMAN

UniProt

Q9NWQ4 - GPT2L_HUMAN

Protein

G patch domain-containing protein 2-like

Gene

GPATCH2L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 3 (05 Oct 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    G patch domain-containing protein 2-like
    Gene namesi
    Name:GPATCH2L
    Synonyms:C14orf118, KIAA1152
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20210. GPATCH2L.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134963976.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 482482G patch domain-containing protein 2-likePRO_0000089927Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei86 – 861Phosphoserine4 Publications
    Modified residuei88 – 881Phosphoserine4 Publications
    Modified residuei91 – 911Phosphothreonine1 Publication
    Modified residuei447 – 4471Phosphoserine2 Publications
    Modified residuei449 – 4491Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NWQ4.
    PaxDbiQ9NWQ4.
    PRIDEiQ9NWQ4.

    PTM databases

    PhosphoSiteiQ9NWQ4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NWQ4.
    BgeeiQ9NWQ4.
    CleanExiHS_C14orf118.
    GenevestigatoriQ9NWQ4.

    Organism-specific databases

    HPAiHPA018856.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SUV39H1O434632EBI-5666657,EBI-349968

    Protein-protein interaction databases

    BioGridi120800. 4 interactions.
    IntActiQ9NWQ4. 5 interactions.
    MINTiMINT-8417617.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NWQ4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi33 – 4816Arg-richAdd
    BLAST

    Phylogenomic databases

    eggNOGiNOG310293.
    HOGENOMiHOG000294060.
    HOVERGENiHBG081274.
    KOiK17569.
    OMAiWLVRTSA.
    PhylomeDBiQ9NWQ4.
    TreeFamiTF331954.

    Family and domain databases

    InterProiIPR026291. Gpatch2.
    [Graphical view]
    PANTHERiPTHR14195. PTHR14195. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NWQ4-3) [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

    MDELVHDLAS ALEQTSEQNK LGELWEEMAL SPRQQRRQLR KRRGRKRRSD    50
    FTHLAEHTCC YSEASESSLD EATKDCREVA PVTNFSDSDD TMVAKRHPAL 100
    NAIVKSKQHS WHESDSFTEN APCRPLRRRR KVKRVTSEVA ASLQQKLKVS 150
    DWSYERGCRF KSAKKQRLSR WKENTPWTSS GHGLCESAEN RTFLSKTGRK 200
    ERMECETDEQ KQGSDENMSE CETSSVCSSS DTGLFTNDEG RQGDDEQSDW 250
    FYEGECVPGF TVPNLLPKWA PDHCSEVERM DSGLDKFSDS TFLLPSRPAQ 300
    RGYHTRLNRL PGAAARCLRK GRRRLVGKET SINTLGTERI SHIISDPRQK 350
    EKNKALASDF PHISACAHEF NPLSPLYSLD VLADASHRRC SPAHCSARQA 400
    NVHWGPPCSR DIKRKRKPVA TASLSSPSAV HMDAVEPTTP ASQAPKSPSS 450
    EWLVRTSAAE KATDATTATF FKMPQEKSPG YS 482
    Length:482
    Mass (Da):54,260
    Last modified:October 5, 2010 - v3
    Checksum:i1BA1C5B38DC6373E
    GO
    Isoform 2 (identifier: Q9NWQ4-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         329-351: ETSINTLGTERISHIISDPRQKE → VIPLTVSLAQWGDNIPYGSCVSY
         352-482: Missing.

    Show »
    Length:351
    Mass (Da):40,051
    Checksum:i17549F20A3E6A6C1
    GO
    Isoform 4 (identifier: Q9NWQ4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         351-369: EKNKALASDFPHISACAHE → DFWLPSAGKRERNQ

    Show »
    Length:477
    Mass (Da):53,895
    Checksum:i4E062C76A034A1DD
    GO

    Sequence cautioni

    The sequence BAA91325.1 differs from that shown. Reason: Frameshift at position 344.
    The sequence BAA86466.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAA91411.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti187 – 1871S → L in BAA91325. (PubMed:14702039)Curated
    Sequence conflicti241 – 2411R → G in BAA91325. (PubMed:14702039)Curated
    Sequence conflicti411 – 4111D → V in BAA91411. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321V → E.
    Corresponds to variant rs17104086 [ dbSNP | Ensembl ].
    VAR_056838

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei329 – 35123ETSIN…PRQKE → VIPLTVSLAQWGDNIPYGSC VSY in isoform 2. 3 PublicationsVSP_014714Add
    BLAST
    Alternative sequencei351 – 36919EKNKA…ACAHE → DFWLPSAGKRERNQ in isoform 4. 1 PublicationVSP_039861Add
    BLAST
    Alternative sequencei352 – 482131Missing in isoform 2. 3 PublicationsVSP_014716Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB032978 mRNA. Translation: BAA86466.1. Different initiation.
    AK000696 mRNA. Translation: BAA91325.1. Frameshift.
    AK000895 mRNA. Translation: BAA91411.1. Different initiation.
    AK023523 mRNA. Translation: BAG51204.1.
    AC016526 Genomic DNA. Translation: AAG38637.1.
    CH471061 Genomic DNA. Translation: EAW81252.1.
    CH471061 Genomic DNA. Translation: EAW81253.1.
    BC058032 mRNA. Translation: AAH58032.1.
    CCDSiCCDS9848.1. [Q9NWQ4-3]
    CCDS9849.1. [Q9NWQ4-4]
    RefSeqiNP_060396.2. NM_017926.3. [Q9NWQ4-3]
    NP_060442.2. NM_017972.3. [Q9NWQ4-4]
    UniGeneiHs.410231.

    Genome annotation databases

    EnsembliENST00000261530; ENSP00000261530; ENSG00000089916. [Q9NWQ4-3]
    ENST00000312858; ENSP00000323775; ENSG00000089916. [Q9NWQ4-4]
    ENST00000556663; ENSP00000450657; ENSG00000089916. [Q9NWQ4-1]
    ENST00000557263; ENSP00000451587; ENSG00000089916. [Q9NWQ4-1]
    GeneIDi55668.
    KEGGihsa:55668.
    UCSCiuc001xsh.3. human. [Q9NWQ4-3]
    uc001xsi.3. human. [Q9NWQ4-4]
    uc001xsj.1. human. [Q9NWQ4-1]

    Polymorphism databases

    DMDMi308153614.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB032978 mRNA. Translation: BAA86466.1 . Different initiation.
    AK000696 mRNA. Translation: BAA91325.1 . Frameshift.
    AK000895 mRNA. Translation: BAA91411.1 . Different initiation.
    AK023523 mRNA. Translation: BAG51204.1 .
    AC016526 Genomic DNA. Translation: AAG38637.1 .
    CH471061 Genomic DNA. Translation: EAW81252.1 .
    CH471061 Genomic DNA. Translation: EAW81253.1 .
    BC058032 mRNA. Translation: AAH58032.1 .
    CCDSi CCDS9848.1. [Q9NWQ4-3 ]
    CCDS9849.1. [Q9NWQ4-4 ]
    RefSeqi NP_060396.2. NM_017926.3. [Q9NWQ4-3 ]
    NP_060442.2. NM_017972.3. [Q9NWQ4-4 ]
    UniGenei Hs.410231.

    3D structure databases

    ProteinModelPortali Q9NWQ4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120800. 4 interactions.
    IntActi Q9NWQ4. 5 interactions.
    MINTi MINT-8417617.

    PTM databases

    PhosphoSitei Q9NWQ4.

    Polymorphism databases

    DMDMi 308153614.

    Proteomic databases

    MaxQBi Q9NWQ4.
    PaxDbi Q9NWQ4.
    PRIDEi Q9NWQ4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261530 ; ENSP00000261530 ; ENSG00000089916 . [Q9NWQ4-3 ]
    ENST00000312858 ; ENSP00000323775 ; ENSG00000089916 . [Q9NWQ4-4 ]
    ENST00000556663 ; ENSP00000450657 ; ENSG00000089916 . [Q9NWQ4-1 ]
    ENST00000557263 ; ENSP00000451587 ; ENSG00000089916 . [Q9NWQ4-1 ]
    GeneIDi 55668.
    KEGGi hsa:55668.
    UCSCi uc001xsh.3. human. [Q9NWQ4-3 ]
    uc001xsi.3. human. [Q9NWQ4-4 ]
    uc001xsj.1. human. [Q9NWQ4-1 ]

    Organism-specific databases

    CTDi 55668.
    GeneCardsi GC14P076619.
    H-InvDB HIX0011833.
    HGNCi HGNC:20210. GPATCH2L.
    HPAi HPA018856.
    neXtProti NX_Q9NWQ4.
    PharmGKBi PA134963976.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310293.
    HOGENOMi HOG000294060.
    HOVERGENi HBG081274.
    KOi K17569.
    OMAi WLVRTSA.
    PhylomeDBi Q9NWQ4.
    TreeFami TF331954.

    Miscellaneous databases

    ChiTaRSi C14orf118. human.
    GenomeRNAii 55668.
    NextBioi 60430.

    Gene expression databases

    ArrayExpressi Q9NWQ4.
    Bgeei Q9NWQ4.
    CleanExi HS_C14orf118.
    Genevestigatori Q9NWQ4.

    Family and domain databases

    InterProi IPR026291. Gpatch2.
    [Graphical view ]
    PANTHERi PTHR14195. PTHR14195. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
      Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
      DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    2. "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] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 176-482 (ISOFORM 4).
      Tissue: Embryo, Ileal mucosa and Placenta.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 2).
      Tissue: Lung.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86 AND SER-88, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86 AND SER-88, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86; SER-88 AND SER-447, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-86; SER-88; THR-91; SER-447 AND SER-449, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiGPT2L_HUMAN
    AccessioniPrimary (citable) accession number: Q9NWQ4
    Secondary accession number(s): B3KN42
    , Q6PEJ7, Q9H3M3, Q9NWH0, Q9ULR8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 2, 2005
    Last sequence update: October 5, 2010
    Last modified: October 1, 2014
    This is version 93 of the entry and version 3 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 14
      Human chromosome 14: 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

    External Data

    Dasty 3