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Aliases for GGNBP1 Gene

Aliases for GGNBP1 Gene

  • Gametogenetin Binding Protein 1 (Pseudogene) 2 3 5
  • Gametogenetin Binding Protein 1 2

External Ids for GGNBP1 Gene

Previous GeneCards Identifiers for GGNBP1 Gene

  • GC06U900709
  • GC06P033660
  • GC06P033551
  • GC06P033295

Summaries for GGNBP1 Gene

Entrez Gene Summary for GGNBP1 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 it is functional in other mammals. [provided by RefSeq, Aug 2009]

GeneCards Summary for GGNBP1 Gene

GGNBP1 (Gametogenetin Binding Protein 1 (Pseudogene)) is a Pseudogene. Diseases associated with GGNBP1 include Fanconi Anemia, Complementation Group A.

UniProtKB/Swiss-Prot for GGNBP1 Gene

  • May be involved in spermatogenesis.

Additional gene information for GGNBP1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGNBP1 Gene

Genomics for GGNBP1 Gene

GeneHancer (GH) Regulatory Elements for GGNBP1 Gene

Promoters and enhancers for GGNBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J033761 Enhancer 1.4 Ensembl ENCODE dbSUPER 11 +222.2 222167 0.8 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A YY1 ZNF143 DEK ZHX2 LEMD2 UQCC2 IP6K3 MLN GGNBP1 BAK1 HLA-DPA1
GH06J033608 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.1 +70.4 70354 3.4 ARID4B KLF17 ZNF48 RARA RCOR1 NFKBIZ SMARCC1 ZBTB25 MIER2 KAT8 BAK1 IP6K3 ITPR3 GGNBP1 HLA-DPA1 LEMD2 CUTA LINC00336
GH06J033767 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.6 +230.6 230557 5.3 PKNOX1 ATF1 SIN3A ZNF2 ZNF121 GLIS2 ARID2 ZNF143 KLF7 ATF7 LEMD2 RING1 BRD2 RXRB RGL2 DAXX ZBTB22 WDR46 VPS52 MLN
GH06J033758 Enhancer 0.9 dbSUPER 11 +219.5 219549 2.1 PKNOX1 FOXA2 INSM2 KLF17 FEZF1 ZNF2 RFX5 ZNF335 ZNF121 ZNF213 LEMD2 UQCC2 RPL35AP4 CYCSP55 KRT18P9 MIR219A1 HTATSF1P1 RPS10P13 IP6K3 ENSG00000233183
GH06J033607 Enhancer 0.7 ENCODE 12.1 +67.9 67874 0.1 BCOR ELF3 CTCF SAP130 MAX ZMYM3 EBF1 RAD21 ZNF48 ADNP GGNBP1 BAK1 IP6K3 LEMD2 ITPR3 LINC00336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGNBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GGNBP1 gene promoter:
  • STAT1beta
  • STAT1alpha
  • STAT1
  • Sp1
  • HSF1 (long)
  • HSF1short
  • p53
  • Pax-5
  • STAT5B

Genomic Locations for GGNBP1 Gene

Genomic Locations for GGNBP1 Gene
chr6:33,540,046-33,589,026
(GRCh38/hg38)
Size:
48,981 bases
Orientation:
Plus strand
chr6:33,551,476-33,556,803
(GRCh37/hg19)
Size:
5,328 bases
Orientation:
Plus strand

Genomic View for GGNBP1 Gene

Genes around GGNBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGNBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGNBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGNBP1 Gene

Proteins for GGNBP1 Gene

  • Protein details for GGNBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5YKI7-GGNB1_HUMAN
    Recommended name:
    Putative gametogenetin-binding protein 1
    Protein Accession:
    Q5YKI7
    Secondary Accessions:
    • Q5YKI8

    Protein attributes for GGNBP1 Gene

    Size:
    109 amino acids
    Molecular mass:
    12309 Da
    Quaternary structure:
    • Interacts with GGN.

    Alternative splice isoforms for GGNBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGNBP1 Gene

Post-translational modifications for GGNBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GGNBP1 Gene

Domains & Families for GGNBP1 Gene

Protein Domains for GGNBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GGNBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GGNBP1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for GGNBP1 Gene

Function for GGNBP1 Gene

Molecular function for GGNBP1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in spermatogenesis.

Phenotypes From GWAS Catalog for GGNBP1 Gene

Phenotypes for GGNBP1 Gene

GenomeRNAi human phenotypes for GGNBP1:
genes like me logo Genes that share phenotypes with GGNBP1: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GGNBP1 Gene

Localization for GGNBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGNBP1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGNBP1 gene
Compartment Confidence
mitochondrion 4
golgi apparatus 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for GGNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005758 mitochondrial intermembrane space IBA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GGNBP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GGNBP1 Gene

Pathways & Interactions for GGNBP1 Gene

SuperPathways for GGNBP1 Gene

No Data Available

Interacting Proteins for GGNBP1 Gene

Selected Interacting proteins: Q5YKI7-GGNB1_HUMAN for GGNBP1 Gene via IID

Symbol External ID(s) Details
GGN

Gene Ontology (GO) - Biological Process for GGNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IBA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GGNBP1: view

No data available for Pathways by source and SIGNOR curated interactions for GGNBP1 Gene

Drugs & Compounds for GGNBP1 Gene

No Compound Related Data Available

Transcripts for GGNBP1 Gene

mRNA/cDNA for GGNBP1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GGNBP1 Gene

Gametogenetin binding protein 1 (pseudogene):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GGNBP1 Gene

No ASD Table

Relevant External Links for GGNBP1 Gene

GeneLoc Exon Structure for
GGNBP1
ECgene alternative splicing isoforms for
GGNBP1

Expression for GGNBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GGNBP1 Gene

mRNA differential expression in normal tissues according to GTEx for GGNBP1 Gene

This gene is overexpressed in Testis (x24.9) and Brain - Anterior cingulate cortex (BA24) (x7.1).

NURSA nuclear receptor signaling pathways regulating expression of GGNBP1 Gene:

GGNBP1

SOURCE GeneReport for Unigene cluster for GGNBP1 Gene:

Hs.582973
genes like me logo Genes that share expression patterns with GGNBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGNBP1 Gene

Orthologs for GGNBP1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for GGNBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGNBP1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GGNBP1 34
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GGNBP1 34
  • 20 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ggnbp1 34
  • 15 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GGNBP1 34
  • 15 (a)
OneToOne
Species where no ortholog for GGNBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GGNBP1 Gene

ENSEMBL:
Gene Tree for GGNBP1 (if available)
TreeFam:
Gene Tree for GGNBP1 (if available)

Paralogs for GGNBP1 Gene

No data available for Paralogs for GGNBP1 Gene

Variants for GGNBP1 Gene

Sequence variations from dbSNP and Humsavar for GGNBP1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000819546 -- 33,585,787(+) G/A intron_variant
rs1002274624 -- 33,585,005(+) C/A/T intron_variant
rs1002649793 -- 33,582,529(+) T/C upstream_transcript_variant
rs1003077688 -- 33,584,085(+) T/C intron_variant
rs1003656540 -- 33,583,796(+) G/C non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GGNBP1 Gene

Variant ID Type Subtype PubMed ID
dgv85n68 CNV loss 17160897
esv3608630 CNV gain 21293372
nsv602833 CNV loss 21841781

Variation tolerance for GGNBP1 Gene

Gene Damage Index Score: 0.80; 16.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGNBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGNBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGNBP1 Gene

Disorders for GGNBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GGNBP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GGNBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GGNBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GGNBP1 Gene

Publications for GGNBP1 Gene

  1. Identification and characterization of a novel testicular germ cell-specific gene Ggnbp1. (PMID: 15625700) Zhou Y … Lu B (Molecular reproduction and development 2005) 3 4 22 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Yeast two-hybrid screens imply that GGNBP1, GGNBP2 and OAZ3 are potential interaction partners of testicular germ cell-specific protein GGN1. (PMID: 15642376) Zhang J … Lu B (FEBS letters 2005) 2 3 58
  4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58
  5. Germ-cell specific protein gametogenetin protein 2 (GGN2), expression in the testis, and association with intracellular membrane. (PMID: 15892049) Zhao Q … Lu B (Molecular reproduction and development 2005) 3 58

Products for GGNBP1 Gene

Sources for GGNBP1 Gene

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