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Q7Z4H3

- HDDC2_HUMAN

UniProt

Q7Z4H3 - HDDC2_HUMAN

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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

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
Complete GO annotation...

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

BgeeiQ7Z4H3.
CleanExiHS_HDDC2.
ExpressionAtlasiQ7Z4H3. baseline and differential.
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.
GeneTreeiENSGT00390000009937.
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

        10         20         30         40         50
MASVSSATFS GHGARSLLQF LRLVGQLKRV PRTGWVYRNV QRPESVSDHM
60 70 80 90 100
YRMAVMAMVI KDDRLNKDRC VRLALVHDMA ECIVGDIAPA DNIPKEEKHR
110 120 130 140 150
REEEAMKQIT QLLPEDLRKE LYELWEEYET QSSAEAKFVK QLDQCEMILQ
160 170 180 190 200
ASEYEDLEHK PGRLQDFYDS TAGKFNHPEI VQLVSELEAE RSTNIAAAAS

EPHS
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.
GeneTreei ENSGT00390000009937.
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

Bgeei Q7Z4H3.
CleanExi HS_HDDC2.
ExpressionAtlasi Q7Z4H3. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 87 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