GGNBP1 (gametogenetin binding protein 1 (pseudogene))

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
449520
Gene name Gene Name - the full gene name approved by the HGNC.
Gametogenetin binding protein 1 (pseudogene)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GGNBP1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though i
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0000266 Process Mitochondrial fission IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005794 Component Golgi apparatus IEA
GO:0007275 Process Multicellular organism development IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609495 19427 HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5YKI7
Protein name Putative gametogenetin-binding protein 1
Protein function May be involved in spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14836 Ubiquitin_3 7 → 108 Ubiquitin-like domain Domain
Sequence
Sequence length 109
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962
View all (38 more)		 28112199
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)		 26920376
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 30285260, 26198764, 28540026
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Diabetes Diabetes GWAS
Psoriasis Psoriasis GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Laryngeal Neoplasms Associate 36033826