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Q7Z4H3 (HDDC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
HD domain-containing protein 2
Alternative name(s):
Hepatitis C virus NS5A-transactivated protein 2
Short name=HCV NS5A-transactivated protein 2
Gene names
Name:HDDC2
Synonyms:C6orf74, NS5ATP2
ORF Names:CGI-130
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length204 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Belongs to the HDDC2 family.

Contains 1 HD domain.

Sequence caution

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.

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Q763532EBI-6163836,EBI-6248077From a different organism.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z4H3-1)

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.
Isoform 2 (identifier: Q7Z4H3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     70-103: Missing.
Isoform 3 (identifier: Q7Z4H3-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 204203HD domain-containing protein 2
PRO_0000311389

Regions

Domain46 – 148103HD

Amino acid modifications

Modified residue21N-acetylalanine Ref.6

Natural variations

Alternative sequence70 – 10334Missing in isoform 2.
VSP_029556
Alternative sequence70 – 712CV → KL in isoform 3.
VSP_029557
Alternative sequence72 – 204133Missing in isoform 3.
VSP_029558
Natural variant641R → C.
Corresponds to variant rs12213371 [ dbSNP | Ensembl ].
VAR_037238

Experimental info

Sequence conflict691R → P in AAD34125. Ref.2
Sequence conflict1311Q → R in AAH66332. Ref.5

Secondary structure

.......................... 204
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: E59D03224F8D6A16

FASTA20423,390
        10         20         30         40         50         60 
MASVSSATFS GHGARSLLQF LRLVGQLKRV PRTGWVYRNV QRPESVSDHM YRMAVMAMVI 

        70         80         90        100        110        120 
KDDRLNKDRC VRLALVHDMA ECIVGDIAPA DNIPKEEKHR REEEAMKQIT QLLPEDLRKE 

       130        140        150        160        170        180 
LYELWEEYET QSSAEAKFVK QLDQCEMILQ ASEYEDLEHK PGRLQDFYDS TAGKFNHPEI 

       190        200 
VQLVSELEAE RSTNIAAAAS EPHS 

« Hide

Isoform 2 [UniParc].

Checksum: 9A9D8CC4BC1D9880
Show »

FASTA17019,550
Isoform 3 [UniParc].

Checksum: 98C8E6489460CB43
Show »

FASTA718,164

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_057147.2. NM_016063.2.
UniGeneHs.32826.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4DMBX-ray1.90A/B1-204[»]
4L1JX-ray1.82A/B1-204[»]
4L7EX-ray2.23A/B1-204[»]
4L7WX-ray2.30A1-204[»]
ProteinModelPortalQ7Z4H3.
SMRQ7Z4H3. Positions 11-200.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119226. 2 interactions.
IntActQ7Z4H3. 1 interaction.

PTM databases

PhosphoSiteQ7Z4H3.

Polymorphism databases

DMDM74713511.

2D gel databases

REPRODUCTION-2DPAGEIPI00386751.

Proteomic databases

PaxDbQ7Z4H3.
PRIDEQ7Z4H3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318787; ENSP00000316242; ENSG00000111906. [Q7Z4H3-3]
ENST00000368377; ENSP00000357361; ENSG00000111906. [Q7Z4H3-2]
ENST00000398153; ENSP00000381220; ENSG00000111906. [Q7Z4H3-1]
ENST00000609477; ENSP00000476969; ENSG00000111906. [Q7Z4H3-3]
GeneID51020.
KEGGhsa:51020.
UCSCuc003qaa.1. human. [Q7Z4H3-1]

Organism-specific databases

CTD51020.
GeneCardsGC06M125596.
HGNCHGNC:21078. HDDC2.
HPAHPA035677.
neXtProtNX_Q7Z4H3.
PharmGKBPA134943525.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1896.
HOGENOMHOG000216981.
HOVERGENHBG097476.
InParanoidQ7Z4H3.
KOK07023.
OMAPHCGVSD.
OrthoDBEOG73NG4R.
PhylomeDBQ7Z4H3.
TreeFamTF313855.

Gene expression databases

ArrayExpressQ7Z4H3.
BgeeQ7Z4H3.
CleanExHS_HDDC2.
GenevestigatorQ7Z4H3.

Family and domain databases

Gene3D1.10.3210.10. 1 hit.
InterProIPR003607. HD/PDEase_dom.
IPR006674. HD_domain.
[Graphical view]
PfamPF13023. HD_3. 1 hit.
[Graphical view]
SMARTSM00471. HDc. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHDDC2. human.
GenomeRNAi51020.
NextBio53540.
PROQ7Z4H3.

Entry information

Entry nameHDDC2_HUMAN
AccessionPrimary (citable) accession number: Q7Z4H3
Secondary accession number(s): Q5TDQ4 expand/collapse secondary AC list , Q6NZ49, Q9BTT2, Q9BV31, Q9Y3D1
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: October 1, 2003
Last modified: April 16, 2014
This is version 81 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM