Q8N2G8 (GHDC_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 64.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: GH3 domain-containing protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 530 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Endoplasmic reticulum. Nucleus envelope By similarity. |
| Sequence similarities | Belongs to the GH3 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Nucleus |
| Coding sequence diversity | Alternative splicing |
| Domain | Signal |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear envelopeInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8N2G8-1) 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: Q8N2G8-2) 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. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 17 | 17 | Potential | ||||||
| Chain | 18 – 530 | 513 | GH3 domain-containing protein | PRO_0000021593 | |||||
Amino acid modifications | |||||||||
| Glycosylation | 450 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 430 – 474 | 45 | DSSAG…YKSLR → EWGRTDRAEDTRLGSCPFTG SMCAHGVYSQIPLRALLPTT RCLWR in isoform 2. | VSP_010835 | |||||
| Alternative sequence | 475 – 530 | 56 | Missing in isoform 2. | VSP_010836 | |||||
Experimental info | |||||||||
| Sequence conflict | 420 | 1 | D → G in BAC11514. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 11161808] [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Mammary gland and Thyroid. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Colon. |
| [4] | "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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF316997 mRNA. Translation: AAK15472.1. AK074700 mRNA. Translation: BAC11146.1. AK075277 mRNA. Translation: BAC11514.1. BC022784 mRNA. Translation: AAH22784.1. |
| IPI | IPI00427501. IPI00427502. |
| RefSeq | NP_001136094.1. NM_001142622.1. NP_001136095.1. NM_001142623.1. NP_115873.1. NM_032484.4. |
| UniGene | Hs.38039. |
3D structure databases | |
| ProteinModelPortal | Q8N2G8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8N2G8. |
Polymorphism databases | |
| DMDM | 50401069. |
Proteomic databases | |
| PRIDE | Q8N2G8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000301671; ENSP00000301671; ENSG00000167925. ENST00000393854; ENSP00000377436; ENSG00000167925. |
| GeneID | 84514. |
| KEGG | hsa:84514. |
| UCSC | uc002hzd.1. human. uc002hze.2. human. |
Organism-specific databases | |
| CTD | 84514. |
| GeneCards | GC17M040341. |
| H-InvDB | HIX0013836. |
| HGNC | HGNC:24438. GHDC. |
| HPA | HPA031650. |
| MIM | 608587. gene. |
| neXtProt | NX_Q8N2G8. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08463. |
| GeneTree | ENSGT00390000016401. |
| HOGENOM | HBG127295. |
| HOVERGEN | HBG080045. |
| InParanoid | Q8N2G8. |
| OMA | AFFSPAY. |
| PhylomeDB | Q8N2G8. |
Gene expression databases | |
| ArrayExpress | Q8N2G8. |
| Bgee | Q8N2G8. |
| CleanEx | HS_GHDC. |
| Genevestigator | Q8N2G8. |
| GermOnline | ENSG00000167925. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004993. GH3. [Graphical view] |
| Pfam | PF03321. GH3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 74312. |
| SOURCE | Search... |
Entry information
| Entry name | GHDC_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N2G8 Secondary accession number(s): Q9BXM6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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