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SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008] See more...
Aliases for SGIP1 Gene
Aliases for SGIP1 Gene
External Ids for SGIP1 Gene
- HGNC: 25412
- Entrez Gene: 84251
- Ensembl: ENSG00000118473
- OMIM: 611540
- UniProtKB: Q9BQI5
Previous GeneCards Identifiers for SGIP1 Gene
- GC00U915585
- GC01P066712
- GC01P066999
- GC01P065109
Summaries for SGIP1 Gene
-
SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]
GeneCards Summary for SGIP1 Gene
SGIP1 (SH3GL Interacting Endocytic Adaptor 1) is a Protein Coding gene. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include microtubule binding and phospholipid binding. An important paralog of this gene is FCHO2.
UniProtKB/Swiss-Prot Summary for SGIP1 Gene
-
May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis.
Additional gene information for SGIP1 Gene
- HGNC(25412)
- Entrez Gene(84251)
- Ensembl(ENSG00000118473)
- OMIM(611540)
- UniProtKB(Q9BQI5)
- Open Targets Platform(ENSG00000118473)
- Search for SGIP1 at DataMed
- Search for SGIP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SGIP1 Gene
Genomics for SGIP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SGIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SGIP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SGIP1
- Top Transcription factor binding sites by QIAGEN in the SGIP1 gene promoter:
-
- AML1a
- C/EBPbeta
- COMP1
- E47
- Evi-1
- HSF1 (long)
- HSF1short
- Tal-1beta
- USF-1
- USF1
Genomic Locations for SGIP1 Gene
Genomic Locations for SGIP1 Gene
- chr1:66,533,361-66,751,139
- (GRCh38/hg38)
- Size:
- 217,779 bases
- Orientation:
- Plus strand
- chr1:66,999,066-67,213,982
- (GRCh37/hg19)
- Size:
- 214,917 bases
- Orientation:
- Plus strand
Genomic View for SGIP1 Gene
Genes around SGIP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
SGIP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SGIP1 Gene
Proteins for SGIP1 Gene
-
Protein details for SGIP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BQI5-SGIP1_HUMAN
- Recommended name:
- SH3-containing GRB2-like protein 3-interacting protein 1
- Protein Accession:
- Q9BQI5
- A6NL81
- A6NLD1
- Q4LE32
- Q5VYE2
- Q5VYE3
- Q5VYE4
- Q68D76
- Q6MZY6
- Q8IWC2
Protein attributes for SGIP1 Gene
- Size:
- 828 amino acids
- Molecular mass:
- 89109 Da
- Quaternary structure:
-
- Interacts with proteins essential or regulating the formation of functional clathrin-coated pits (Probable). Interacts with CANX (By similarity). Interacts with AP2A1 (By similarity). Interacts with EPS15 (PubMed:26822536). Interacts with SH3GL3 (PubMed:15919751). Interacts with AMPH (PubMed:20946875). Interacts with ITSN1 (via SH3 domains) (PubMed:20946875). Interacts with and REPS1 (PubMed:20946875).
- SequenceCaution:
-
- Sequence=BAE06121.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for SGIP1 Gene
Protein Expression for SGIP1 Gene
Post-translational modifications for SGIP1 Gene
Other Protein References for SGIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005271327.1
- XP_006711024.1
- XP_006711034.1
- XP_006711036.1
- XP_011540593.1
- XP_011540594.1
- XP_016857994.1
- XP_016857995.1
- XP_016857996.1
- XP_016857997.1
- XP_016857998.1
- XP_016857999.1
- XP_016858002.1
- XP_016858004.1
- XP_016858005.1
- XP_016858009.1
- XP_016858012.1
- XP_016858013.1
- XP_016858017.1
- XP_016858018.1
- XP_016858019.1
- XP_016858021.1
- XP_016858025.1
- XP_024305995.1
- NP_001295132.1
- NP_001337146.1
- NP_001337147.1
- NP_001363463.1
- NP_001363464.1
- NP_001363465.1
- NP_001363466.1
- NP_001363467.1
- NP_001363468.1
- NP_001363469.1
- NP_001363470.1
- NP_001363471.1
- NP_001363472.1
- NP_001363473.1
- NP_001363474.1
- NP_001363475.1
- NP_001363476.1
- NP_001363477.1
- NP_001363478.1
- NP_001363479.1
- NP_001363480.1
- NP_001363481.1
- NP_001363483.1
- NP_001363484.1
- NP_001363485.1
- NP_001363486.1
- NP_115667.2
Antibody Products
- Creative Diagnostics Anti-SGIP1 (aa 1-30) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SGIP1
- Novus Biologicals Antibodies for SGIP1
-
Abcam antibodies for SGIP1
- Invitrogen Antibodies for SGIP1 (AFLGC-SGIP1)
-
Biorbyt antibodies for SGIP1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SGIP1
- Origene Custom Protein Services for SGIP1
- Novus Biologicals proteins for SGIP1
-
Abcam proteins for SGIP1
Assay Products
- antibodies-online: Show 4 available SGIP1 Elisa Kits ranked by validation data
- Compare Top SGIP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SGIP1 Gene
Domains & Families for SGIP1 Gene
Gene Families for SGIP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for SGIP1 Gene
- InterPro:
- Blocks:
-
- Collagen triple helix repeat
- ProtoNet:
Suggested Antigen Peptide Sequences for SGIP1 Gene
- GenScript: Design optimal peptide antigens:
-
- SH3-domain GRB2-like (Endophilin) interacting protein 1 (B1ALM1_HUMAN)
- SH3-domain GRB2-like (Endophilin) interacting protein 1 (B1AN49_HUMAN)
- cDNA FLJ43054 fis, clone BRTHA3007113 (Q6ZV33_HUMAN)
- Endophilin-3-interacting protein (SGIP1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SGIP1 Gene
Function for SGIP1 Gene
Molecular function for SGIP1 Gene
- UniProtKB/Swiss-Prot Function:
- May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis.
Phenotypes From GWAS Catalog for SGIP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15919751 |
| GO:0005543 | phospholipid binding | IEA,ISS | -- |
| GO:0008017 | microtubule binding | IEA,ISS | -- |
| GO:0008092 | cytoskeletal protein binding | IBA | 21873635 |
| GO:0015631 | tubulin binding | IEA | -- |
Phenotypes for SGIP1 Gene
- MGI mutant phenotypes for SGIP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SGIP1:
-
- no effect
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased Salmonella proliferation
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for SGIP1 Gene
- MGI Knock Outs for SGIP1:
-
- Sgip1 Sgip1<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SGIP1 - Select products 50% OFF >
- * SGIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SGIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SGIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SGIP1
miRNA for SGIP1 Gene
- miRTarBase miRNAs that target SGIP1
-
- hsa-miR-510-3p (MIRT450667)
- hsa-miR-6869-5p (MIRT450668)
- hsa-miR-488-3p (MIRT450669)
- hsa-miR-526b-5p (MIRT450670)
- hsa-miR-513c-3p (MIRT450671)
- hsa-miR-513a-3p (MIRT450672)
- hsa-miR-3606-3p (MIRT450673)
- hsa-miR-548l (MIRT450674)
- hsa-miR-496 (MIRT450675)
- hsa-miR-362-3p (MIRT607307)
- hsa-miR-329-3p (MIRT607308)
- hsa-miR-8485 (MIRT607309)
- hsa-miR-4311 (MIRT607310)
- hsa-miR-452-3p (MIRT622303)
- hsa-miR-3941 (MIRT622304)
- hsa-miR-4789-3p (MIRT622305)
- hsa-miR-603 (MIRT622306)
- hsa-miR-3919 (MIRT629495)
- hsa-miR-642b-3p (MIRT629496)
- hsa-miR-642a-3p (MIRT629497)
- hsa-miR-4775 (MIRT712201)
- hsa-miR-4742-3p (MIRT712202)
- hsa-miR-1183 (MIRT712203)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SGIP1
- Browse OriGene Inhibitory RNA Products For SGIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGIP1
Clone Products
- Applied Biological Materials (abm): Clones for SGIP1 - Select products 50% OFF >
- * SGIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SGIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SGIP1
Cell Line Products
-
Horizon Cell Lines for SGIP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SGIP1 Gene
Localization for SGIP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SGIP1 Gene
- Membrane, clathrin-coated pit. Peripheral membrane protein. Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 4 |
| cytoskeleton | 3 |
| nucleus | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IBA | 21873635 |
| GO:0005886 | plasma membrane | IEA,IDA | 20946875 |
| GO:0005905 | clathrin-coated pit | IBA,IDA | 20946875 |
Pathways & Interactions for SGIP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin-mediated endocytosis | ||
| 2 | Vesicle-mediated transport | ||
Pathways by source for SGIP1 Gene
4 Reactome pathways for SGIP1 Gene
Interacting Proteins for SGIP1 Gene
GPS-Prot Interaction Network for SGIP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002021 | response to dietary excess | ISS | -- |
| GO:0006897 | endocytosis | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0048260 | positive regulation of receptor-mediated endocytosis | IEA,ISS | -- |
| GO:0048268 | clathrin coat assembly | IBA | 21873635 |
No data available for SIGNOR curated interactions for SGIP1 Gene
Transcripts for SGIP1 Gene
mRNA/cDNA for SGIP1 Gene
- 27 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000237247 3997 nts (view in UCSC)
- ENST00000320161 680 nts (view in UCSC)
- ENST00000371037 10737 nts (view in UCSC)
- ENST00000371039 4080 nts (view in UCSC)
- ENST00000424320 951 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SGIP1 - Select products 50% OFF >
- * SGIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SGIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SGIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SGIP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SGIP1
- Browse OriGene Inhibitory RNA Products For SGIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGIP1
Clone Products
- Applied Biological Materials (abm): Clones for SGIP1 - Select products 50% OFF >
- * SGIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SGIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SGIP1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for SGIP1 Gene
- GeneLoc Exon Structure for
- SGIP1
Expression for SGIP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Monocytes Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Mesenchymal Stem Cells (Uncategorized)
- Placenta (Extraembryonic Tissues)
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Kidney (Urinary System)
- Presumptive Podocytes Podocyte Layer
-
Epithelial Cells
- Presumptive Podocytes Podocyte Layer
- Eye (Sensory Organs)
This gene is overexpressed in Brain (42.8) and Frontal cortex (21.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SGIP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SGIP1
SOURCE GeneReport for Unigene cluster for SGIP1 Gene:
Hs.132121mRNA Expression by UniProt/SwissProt for SGIP1 Gene:
Q9BQI5-SGIP1_HUMAN
Tissue specificity:
Specifically expressed in brain.
Evidence on tissue expression from TISSUES for SGIP1 Gene
- Nervous system(4.8)
- Intestine(4.1)
- Eye(2.2)
Primer Products
-
OriGene qPCR primer pairs for SGIP1
-
OriGene qPCR primer pairs and template standards for SGIP1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SGIP1 Gene
Orthologs for SGIP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SGIP1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SGIP1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SGIP1 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SGIP1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sgip1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sgip1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SGIP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SGIP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SGIP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sgip1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC566542 30 |
|
||
| SGIP1 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG8176 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | fcho-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for SGIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
- Wheat (Triticum aestivum)
Evolution for SGIP1 Gene
- ENSEMBL:
- Gene Tree for SGIP1 (if available)
- TreeFam:
- Gene Tree for SGIP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SGIP1: view image
Paralogs for SGIP1 Gene
Variants for SGIP1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for SGIP1 Gene
- SGIP1_HUMAN-Q9BQI5
- Genetic variation in SGIP1 is associated with fat mass and SGIP1 may be a determinant of obesity-related traits.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SGIP1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 791220 | Benign: not provided | 66,682,344(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| rs17490057 | - | p.Glu112Gln | |||
| rs17854026 | - | p.Lys575Glu | |||
| rs17855645 | - | p.Pro161Gln | |||
| rs7526812 | - | p.Lys131Arg |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv175n100 | CNV | gain | 25217958 |
| esv2094631 | CNV | deletion | 18987734 |
| esv2571464 | CNV | deletion | 19546169 |
| esv2749364 | CNV | deletion | 23290073 |
| esv2749375 | CNV | deletion | 23290073 |
| esv2749386 | CNV | deletion | 23290073 |
| esv2749397 | CNV | deletion | 23290073 |
| esv3563438 | CNV | deletion | 23714750 |
| esv3586298 | CNV | loss | 21293372 |
| esv4277 | CNV | loss | 18987735 |
| esv6908 | CNV | loss | 19470904 |
| esv997677 | CNV | deletion | 20482838 |
| nsv1013351 | CNV | gain | 25217958 |
| nsv1078478 | CNV | deletion | 25765185 |
| nsv1113130 | CNV | deletion | 24896259 |
| nsv1152004 | CNV | deletion | 26484159 |
| nsv1210 | CNV | deletion | 18451855 |
| nsv1221 | CNV | deletion | 18451855 |
| nsv1232 | CNV | insertion | 18451855 |
| nsv160302 | CNV | deletion | 16902084 |
| nsv830093 | CNV | gain | 17160897 |
| nsv958658 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
8.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.12;
92.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SGIP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SGIP1
SNP Genotyping and Copy Number Assay Products
Disorders for SGIP1 Gene
Additional Disease Information for SGIP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No disorders were found for SGIP1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SGIP1 Gene
Publications for SGIP1 Gene
- Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
- Structural basis for the recognition of two consecutive mutually interacting DPF motifs by the SGIP1 μ homology domain. (PMID: 26822536) Shimada A … Kohda D (Scientific reports 2016) 3 4
- Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass. (PMID: 21407171) Cummings N … Jowett JB (International journal of obesity (2005) 2012) 3 4
- Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PMID: 20946875) Dergai O … Rynditch A (Biochemical and biophysical research communications 2010) 3 4
- Genome-wide association identifies candidate genes that influence the human electroencephalogram. (PMID: 20421487) Hodgkinson CA … Goldman D (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41
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Products for SGIP1 Gene
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Sources for SGIP1 Gene
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