Gene id |
84514 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
GHDC Gene UCSC Ensembl |
Aliases |
D11LGP1, LGP1 |
Gene name |
GH3 domain containing |
Alternate names |
GH3 domain-containing protein, homolog of mouse LGP1, |
Gene location |
17q21.2 (42194493: 42189086) Exons: 10 NC_000017.11
|
OMIM |
610418 |
Protein Summary
|
Protein general information
| Q8N2G8
Name: GH3 domain containing protein
Length: 530 Mass: 57523
|
Sequence |
MLLWPLLLLLLLLPTLALLRQQRSQDARLSWLAGLQHRVAWGALVWAATWQRRRLEQSTLHVHQSQQQALRWCLQ GAQRPHCSLRRSTDISTFRNHLPLTKASQTQQEDSGEQPLPPTSNQDLGEASLQATLLGLAALNKAYPEVLAQGR TARVTLTSPWPRPLPWPGNTLGQVGTPGTKDPRALLLDALRSPGLRALEAGTAVELLDVFLGLETDGEELAGAIA AGNPGAPLRERAAELREALEQGPRGLALRLWPKLQVVVTLDAGGQAEAVAALGALWCQGLAFFSPAYAASGGVLG LNLQPEQPHGLYLLPPGAPFIELLPVKEGTQEEAASTLLLAEAQQGKEYELVLTDRASLTRCRLGDVVRVVGAYN QCPVVRFICRLDQTLSVRGEDIGEDLFSEALGRAVGQWAGAKLLDHGCVESSILDSSAGSAPHYEVFVALRGLRN LSEENRDKLDHCLQEASPRYKSLRFWGSVGPARVHLVGQGAFRALRAALAACPSSPFPPAMPRVLRHRHLAQCLQ ERVVS
|
Structural information |
|
Other Databases |
GeneCards: GHDC  Malacards: GHDC |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0016881 |
acid-amino acid ligase ac tivity
|
IBA |
molecular function |
GO:0005737 |
cytoplasm
|
IBA |
cellular component |
GO:0005783 |
endoplasmic reticulum
|
IEA |
cellular component |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0043312 |
neutrophil degranulation
|
TAS |
biological process |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0005576 |
extracellular region
|
TAS |
cellular component |
GO:0034774 |
secretory granule lumen
|
TAS |
cellular component |
GO:0035580 |
specific granule lumen
|
TAS |
cellular component |
GO:0005783 |
endoplasmic reticulum
|
IEA |
cellular component |
GO:0005783 |
endoplasmic reticulum
|
IEA |
cellular component |
GO:0005635 |
nuclear envelope
|
IEA |
cellular component |
GO:0016020 |
membrane
|
HDA |
cellular component |
GO:0008150 |
biological_process
|
ND |
biological process |
GO:0003674 |
molecular_function
|
ND |
molecular function |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Hypospermatogenesis | MIK: 28361989 |
Spermatogenic defects | MIK: 31037746 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28361989 |
Hyposperma togenesis
|
|
|
6 (3 controls, 3 Klienfelter s yndrome
|
Male infertility |
Microarray
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|