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Q7Z4H3

- HDDC2_HUMAN

UniProt

Q7Z4H3 - HDDC2_HUMAN

Protein

HD domain-containing protein 2

Gene

HDDC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. metal ion binding Source: InterPro
    2. phosphoric diester hydrolase activity Source: InterPro
    3. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HD domain-containing protein 2
    Alternative name(s):
    Hepatitis C virus NS5A-transactivated protein 2
    Short name:
    HCV NS5A-transactivated protein 2
    Gene namesi
    Name:HDDC2
    Synonyms:C6orf74, NS5ATP2
    ORF Names:CGI-130
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21078. HDDC2.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. mitochondrion Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134943525.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 204203HD domain-containing protein 2PRO_0000311389Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ7Z4H3.
    PaxDbiQ7Z4H3.
    PRIDEiQ7Z4H3.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00386751.

    PTM databases

    PhosphoSiteiQ7Z4H3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7Z4H3.
    BgeeiQ7Z4H3.
    CleanExiHS_HDDC2.
    GenevestigatoriQ7Z4H3.

    Organism-specific databases

    HPAiHPA035677.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Q763532EBI-6163836,EBI-6248077From a different organism.

    Protein-protein interaction databases

    BioGridi119226. 2 interactions.
    IntActiQ7Z4H3. 1 interaction.

    Structurei

    Secondary structure

    1
    204
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi14 – 2512
    Helixi26 – 294
    Helixi33 – 364
    Turni37 – 393
    Helixi46 – 5914
    Helixi67 – 7610
    Turni77 – 804
    Helixi81 – 844
    Helixi89 – 913
    Helixi95 – 11016
    Helixi115 – 13016
    Helixi134 – 15825
    Turni161 – 1644
    Helixi165 – 1717
    Helixi178 – 19922

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4DMBX-ray1.90A/B1-204[»]
    4L1JX-ray1.82A/B1-204[»]
    4L7EX-ray2.23A/B1-204[»]
    4L7WX-ray2.30A1-204[»]
    ProteinModelPortaliQ7Z4H3.
    SMRiQ7Z4H3. Positions 11-200.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini46 – 148103HDAdd
    BLAST

    Sequence similaritiesi

    Belongs to the HDDC2 family.Curated
    Contains 1 HD domain.Curated

    Phylogenomic databases

    eggNOGiCOG1896.
    HOGENOMiHOG000216981.
    HOVERGENiHBG097476.
    InParanoidiQ7Z4H3.
    KOiK07023.
    OMAiPHCGVSD.
    OrthoDBiEOG73NG4R.
    PhylomeDBiQ7Z4H3.
    TreeFamiTF313855.

    Family and domain databases

    Gene3Di1.10.3210.10. 1 hit.
    InterProiIPR003607. HD/PDEase_dom.
    IPR006674. HD_domain.
    [Graphical view]
    PfamiPF13023. HD_3. 1 hit.
    [Graphical view]
    SMARTiSM00471. HDc. 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: Q7Z4H3-1) [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

    MASVSSATFS GHGARSLLQF LRLVGQLKRV PRTGWVYRNV QRPESVSDHM    50
    YRMAVMAMVI KDDRLNKDRC VRLALVHDMA ECIVGDIAPA DNIPKEEKHR 100
    REEEAMKQIT QLLPEDLRKE LYELWEEYET QSSAEAKFVK QLDQCEMILQ 150
    ASEYEDLEHK PGRLQDFYDS TAGKFNHPEI VQLVSELEAE RSTNIAAAAS 200
    EPHS 204
    Length:204
    Mass (Da):23,390
    Last modified:October 1, 2003 - v1
    Checksum:iE59D03224F8D6A16
    GO
    Isoform 2 (identifier: Q7Z4H3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         70-103: Missing.

    Show »
    Length:170
    Mass (Da):19,550
    Checksum:i9A9D8CC4BC1D9880
    GO
    Isoform 3 (identifier: Q7Z4H3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         70-71: CV → KL
         72-204: Missing.

    Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:71
    Mass (Da):8,164
    Checksum:i98C8E6489460CB43
    GO

    Sequence cautioni

    The sequence AAD34125.1 differs from that shown. Reason: Correction of a non-canonical splice junction.
    The sequence AAH03357.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti69 – 691R → P in AAD34125. (PubMed:10810093)Curated
    Sequence conflicti131 – 1311Q → R in AAH66332. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti64 – 641R → C.
    Corresponds to variant rs12213371 [ dbSNP | Ensembl ].
    VAR_037238

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei70 – 10334Missing in isoform 2. CuratedVSP_029556Add
    BLAST
    Alternative sequencei70 – 712CV → KL in isoform 3. 2 PublicationsVSP_029557
    Alternative sequencei72 – 204133Missing in isoform 3. 2 PublicationsVSP_029558Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF529363 mRNA. Translation: AAQ09597.1.
    AF151888 mRNA. Translation: AAD34125.1. Sequence problems.
    AL121938 Genomic DNA. Translation: CAI19646.1.
    CH471051 Genomic DNA. Translation: EAW48138.1.
    BC001671 mRNA. Translation: AAH01671.1.
    BC003357 mRNA. Translation: AAH03357.2. Different initiation.
    BC066332 mRNA. Translation: AAH66332.1.
    CCDSiCCDS43503.1. [Q7Z4H3-1]
    RefSeqiNP_057147.2. NM_016063.2. [Q7Z4H3-1]
    UniGeneiHs.32826.

    Genome annotation databases

    EnsembliENST00000318787; ENSP00000316242; ENSG00000111906. [Q7Z4H3-3]
    ENST00000398153; ENSP00000381220; ENSG00000111906. [Q7Z4H3-1]
    ENST00000609477; ENSP00000476969; ENSG00000111906. [Q7Z4H3-3]
    GeneIDi51020.
    KEGGihsa:51020.
    UCSCiuc003qaa.1. human. [Q7Z4H3-1]

    Polymorphism databases

    DMDMi74713511.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF529363 mRNA. Translation: AAQ09597.1 .
    AF151888 mRNA. Translation: AAD34125.1 . Sequence problems.
    AL121938 Genomic DNA. Translation: CAI19646.1 .
    CH471051 Genomic DNA. Translation: EAW48138.1 .
    BC001671 mRNA. Translation: AAH01671.1 .
    BC003357 mRNA. Translation: AAH03357.2 . Different initiation.
    BC066332 mRNA. Translation: AAH66332.1 .
    CCDSi CCDS43503.1. [Q7Z4H3-1 ]
    RefSeqi NP_057147.2. NM_016063.2. [Q7Z4H3-1 ]
    UniGenei Hs.32826.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4DMB X-ray 1.90 A/B 1-204 [» ]
    4L1J X-ray 1.82 A/B 1-204 [» ]
    4L7E X-ray 2.23 A/B 1-204 [» ]
    4L7W X-ray 2.30 A 1-204 [» ]
    ProteinModelPortali Q7Z4H3.
    SMRi Q7Z4H3. Positions 11-200.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119226. 2 interactions.
    IntActi Q7Z4H3. 1 interaction.

    PTM databases

    PhosphoSitei Q7Z4H3.

    Polymorphism databases

    DMDMi 74713511.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00386751.

    Proteomic databases

    MaxQBi Q7Z4H3.
    PaxDbi Q7Z4H3.
    PRIDEi Q7Z4H3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318787 ; ENSP00000316242 ; ENSG00000111906 . [Q7Z4H3-3 ]
    ENST00000398153 ; ENSP00000381220 ; ENSG00000111906 . [Q7Z4H3-1 ]
    ENST00000609477 ; ENSP00000476969 ; ENSG00000111906 . [Q7Z4H3-3 ]
    GeneIDi 51020.
    KEGGi hsa:51020.
    UCSCi uc003qaa.1. human. [Q7Z4H3-1 ]

    Organism-specific databases

    CTDi 51020.
    GeneCardsi GC06M125596.
    HGNCi HGNC:21078. HDDC2.
    HPAi HPA035677.
    neXtProti NX_Q7Z4H3.
    PharmGKBi PA134943525.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1896.
    HOGENOMi HOG000216981.
    HOVERGENi HBG097476.
    InParanoidi Q7Z4H3.
    KOi K07023.
    OMAi PHCGVSD.
    OrthoDBi EOG73NG4R.
    PhylomeDBi Q7Z4H3.
    TreeFami TF313855.

    Miscellaneous databases

    ChiTaRSi HDDC2. human.
    GenomeRNAii 51020.
    NextBioi 53540.
    PROi Q7Z4H3.

    Gene expression databases

    ArrayExpressi Q7Z4H3.
    Bgeei Q7Z4H3.
    CleanExi HS_HDDC2.
    Genevestigatori Q7Z4H3.

    Family and domain databases

    Gene3Di 1.10.3210.10. 1 hit.
    InterProi IPR003607. HD/PDEase_dom.
    IPR006674. HD_domain.
    [Graphical view ]
    Pfami PF13023. HD_3. 1 hit.
    [Graphical view ]
    SMARTi SM00471. HDc. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and identification of NS5ATP2 gene and its spliced variant transactivated by hepatitis C virus non-structural protein 5A."
      Yang Q., Cheng J., Liu Y., Hong Y., Wang J.-J., Zhang S.-L.
      World J. Gastroenterol. 10:1735-1739(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Hepatoma.
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(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] (ISOFORMS 1 AND 3).
      Tissue: Brain, Lung and Placenta.
    6. "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: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Northeast structural genomics consortium target HR6723."
      Northeast structural genomics consortium (NESG)
      Submitted (APR-2012) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS).

    Entry informationi

    Entry nameiHDDC2_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z4H3
    Secondary accession number(s): Q5TDQ4
    , Q6NZ49, Q9BTT2, Q9BV31, Q9Y3D1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 86 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3