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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr15402

Uniprot ID

CHCH7_HUMAN

Uniprot Acc

Q9BUK0;A8K223;Q7Z588;

Protein name

Coiled-coil-helix-coiled-coil-helix domain-containing protein 7

Comment

ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BUK0-1; Sequence=Displayed; Name=2; IsoId=Q9BUK0-2; Sequence=VSP 038076; Name=3; IsoId=Q9BUK0-3; Sequence=VSP 038076, VSP 038077;||DISEASE:Note=A chromosomal aberration involving CHCHD7 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(6;8)(p21.3-22;q13) with PLAG1.||SIMILARITY:Belongs to the CHCHD7 family.||SIMILARITY:Contains 1 CHCH domain.||SEQUENCE CAUTION:Sequence=BAF82777.1; Type=Erroneous initiation; Sequence=EAW86776.1; Type=Erroneous gene model prediction;

Gene name

coiled-coil-helix-coiled-coil-helix domain containing 7

Protein sequence

MPSVTQRLRDPDINPCLSESDASTRCLDENNYDRERCSTY FLRYKNCRRFWNSIVMQRRKNGVKPFMPTAAERDEILRA VGNMPY

Database cross reference

RefSeq Protein accession:NP_001011667
RefSeq Protein gi:58761512

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;