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Q8N2G8

- GHDC_HUMAN

UniProt

Q8N2G8 - GHDC_HUMAN

Protein

GH3 domain-containing protein

Gene

GHDC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (19 Jul 2004)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GH3 domain-containing protein
    Gene namesi
    Name:GHDC
    Synonyms:D11LGP1E, LGP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24438. GHDC.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB-SubCell
    2. membrane Source: UniProtKB
    3. nuclear envelope Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA147358034.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 530513GH3 domain-containing proteinPRO_0000021593Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi450 – 4501N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8N2G8.
    PaxDbiQ8N2G8.
    PRIDEiQ8N2G8.

    PTM databases

    PhosphoSiteiQ8N2G8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N2G8.
    BgeeiQ8N2G8.
    CleanExiHS_GHDC.
    GenevestigatoriQ8N2G8.

    Organism-specific databases

    HPAiHPA031650.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000301671.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N2G8.
    SMRiQ8N2G8. Positions 230-507.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the GH3 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG86848.
    HOGENOMiHOG000230989.
    HOVERGENiHBG080045.
    InParanoidiQ8N2G8.
    OMAiRYKSLRF.
    OrthoDBiEOG7HQN7M.
    PhylomeDBiQ8N2G8.
    TreeFamiTF333007.

    Family and domain databases

    InterProiIPR004993. GH3.
    [Graphical view]
    PfamiPF03321. GH3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N2G8-1) [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

    MLLWPLLLLL LLLPTLALLR QQRSQDARLS WLAGLQHRVA WGALVWAATW    50
    QRRRLEQSTL HVHQSQQQAL RWCLQGAQRP HCSLRRSTDI STFRNHLPLT 100
    KASQTQQEDS GEQPLPPTSN QDLGEASLQA TLLGLAALNK AYPEVLAQGR 150
    TARVTLTSPW PRPLPWPGNT LGQVGTPGTK DPRALLLDAL RSPGLRALEA 200
    GTAVELLDVF LGLETDGEEL AGAIAAGNPG APLRERAAEL REALEQGPRG 250
    LALRLWPKLQ VVVTLDAGGQ AEAVAALGAL WCQGLAFFSP AYAASGGVLG 300
    LNLQPEQPHG LYLLPPGAPF IELLPVKEGT QEEAASTLLL AEAQQGKEYE 350
    LVLTDRASLT RCRLGDVVRV VGAYNQCPVV RFICRLDQTL SVRGEDIGED 400
    LFSEALGRAV GQWAGAKLLD HGCVESSILD SSAGSAPHYE VFVALRGLRN 450
    LSEENRDKLD HCLQEASPRY KSLRFWGSVG PARVHLVGQG AFRALRAALA 500
    ACPSSPFPPA MPRVLRHRHL AQCLQERVVS 530
    Length:530
    Mass (Da):57,523
    Last modified:July 19, 2004 - v2
    Checksum:iBC0D92AC78889C16
    GO
    Isoform 2 (identifier: Q8N2G8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         430-474: DSSAGSAPHY...EASPRYKSLR → EWGRTDRAED...LLPTTRCLWR
         475-530: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:474
    Mass (Da):51,460
    Checksum:iC790C90825214706
    GO
    Isoform 3 (identifier: Q8N2G8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         101-139: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:491
    Mass (Da):53,519
    Checksum:iBF8D94485DD5F2BC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti420 – 4201D → G in BAC11514. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei101 – 13939Missing in isoform 3. 1 PublicationVSP_044831Add
    BLAST
    Alternative sequencei430 – 47445DSSAG…YKSLR → EWGRTDRAEDTRLGSCPFTG SMCAHGVYSQIPLRALLPTT RCLWR in isoform 2. 1 PublicationVSP_010835Add
    BLAST
    Alternative sequencei475 – 53056Missing in isoform 2. 1 PublicationVSP_010836Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF316997 mRNA. Translation: AAK15472.1.
    AK074700 mRNA. Translation: BAC11146.1.
    AK075277 mRNA. Translation: BAC11514.1.
    AK298933 mRNA. Translation: BAG61036.1.
    AC099811 Genomic DNA. No translation available.
    BC022784 mRNA. Translation: AAH22784.1.
    CCDSiCCDS11422.1. [Q8N2G8-1]
    CCDS45681.1. [Q8N2G8-3]
    CCDS45682.1. [Q8N2G8-2]
    RefSeqiNP_001136094.1. NM_001142622.1. [Q8N2G8-3]
    NP_001136095.1. NM_001142623.1. [Q8N2G8-2]
    NP_115873.1. NM_032484.4. [Q8N2G8-1]
    UniGeneiHs.38039.

    Genome annotation databases

    EnsembliENST00000301671; ENSP00000301671; ENSG00000167925. [Q8N2G8-1]
    ENST00000414034; ENSP00000399952; ENSG00000167925. [Q8N2G8-2]
    ENST00000428494; ENSP00000410945; ENSG00000167925. [Q8N2G8-3]
    ENST00000587427; ENSP00000467585; ENSG00000167925. [Q8N2G8-1]
    GeneIDi84514.
    KEGGihsa:84514.
    UCSCiuc002hzd.3. human. [Q8N2G8-1]
    uc002hze.4. human. [Q8N2G8-2]

    Polymorphism databases

    DMDMi50401069.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF316997 mRNA. Translation: AAK15472.1 .
    AK074700 mRNA. Translation: BAC11146.1 .
    AK075277 mRNA. Translation: BAC11514.1 .
    AK298933 mRNA. Translation: BAG61036.1 .
    AC099811 Genomic DNA. No translation available.
    BC022784 mRNA. Translation: AAH22784.1 .
    CCDSi CCDS11422.1. [Q8N2G8-1 ]
    CCDS45681.1. [Q8N2G8-3 ]
    CCDS45682.1. [Q8N2G8-2 ]
    RefSeqi NP_001136094.1. NM_001142622.1. [Q8N2G8-3 ]
    NP_001136095.1. NM_001142623.1. [Q8N2G8-2 ]
    NP_115873.1. NM_032484.4. [Q8N2G8-1 ]
    UniGenei Hs.38039.

    3D structure databases

    ProteinModelPortali Q8N2G8.
    SMRi Q8N2G8. Positions 230-507.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000301671.

    PTM databases

    PhosphoSitei Q8N2G8.

    Polymorphism databases

    DMDMi 50401069.

    Proteomic databases

    MaxQBi Q8N2G8.
    PaxDbi Q8N2G8.
    PRIDEi Q8N2G8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000301671 ; ENSP00000301671 ; ENSG00000167925 . [Q8N2G8-1 ]
    ENST00000414034 ; ENSP00000399952 ; ENSG00000167925 . [Q8N2G8-2 ]
    ENST00000428494 ; ENSP00000410945 ; ENSG00000167925 . [Q8N2G8-3 ]
    ENST00000587427 ; ENSP00000467585 ; ENSG00000167925 . [Q8N2G8-1 ]
    GeneIDi 84514.
    KEGGi hsa:84514.
    UCSCi uc002hzd.3. human. [Q8N2G8-1 ]
    uc002hze.4. human. [Q8N2G8-2 ]

    Organism-specific databases

    CTDi 84514.
    GeneCardsi GC17M040341.
    HGNCi HGNC:24438. GHDC.
    HPAi HPA031650.
    MIMi 608587. gene.
    neXtProti NX_Q8N2G8.
    PharmGKBi PA147358034.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86848.
    HOGENOMi HOG000230989.
    HOVERGENi HBG080045.
    InParanoidi Q8N2G8.
    OMAi RYKSLRF.
    OrthoDBi EOG7HQN7M.
    PhylomeDBi Q8N2G8.
    TreeFami TF333007.

    Miscellaneous databases

    GenomeRNAii 84514.
    NextBioi 74312.
    PROi Q8N2G8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N2G8.
    Bgeei Q8N2G8.
    CleanExi HS_GHDC.
    Genevestigatori Q8N2G8.

    Family and domain databases

    InterProi IPR004993. GH3.
    [Graphical view ]
    Pfami PF03321. GH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Structure of the mouse Stat 3/5 locus: evolution from Drosophila to zebrafish to mouse."
      Miyoshi K., Cui Y., Riedlinger G., Robinson P., Lehoczky J., Zon L., Oka T., Dewar K., Hennighausen L.
      Genomics 71:150-155(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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; 2 AND 3).
      Tissue: Mammary gland and Thyroid.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 1).
      Tissue: Colon.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiGHDC_HUMAN
    AccessioniPrimary (citable) accession number: Q8N2G8
    Secondary accession number(s): B4DQS4, E9PDB5, Q9BXM6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: July 19, 2004
    Last modified: October 1, 2014
    This is version 88 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 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3