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

  • SH3GL Interacting Endocytic Adaptor 1 2 3 5
  • SH3-Containing GRB2-Like Protein 3-Interacting Protein 1 3 4
  • SH3 Domain GRB2 Like Endophilin Interacting Protein 1 2 3
  • Endophilin-3-Interacting Protein 3 4
  • DKFZp761D221 2
  • SGIP1 5

External Ids for SGIP1 Gene

Previous GeneCards Identifiers for SGIP1 Gene

  • GC00U915585
  • GC01P066712
  • GC01P066999
  • GC01P065109

Summaries for SGIP1 Gene

Entrez Gene Summary 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.

Gene Wiki entry for SGIP1 Gene

Additional gene information for SGIP1 Gene

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
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
GH01J066532 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611.6 +1.1 1140 5 CREB1 PRDM10 ZNF629 ZIC2 POLR2A DPF2 TCF12 EP300 RAD21 UBTF SGIP1 NONHSAG001742.2 TCTEX1D1 lnc-INSL5-3
GH01J066526 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 600.4 -5.5 -5460 2.6 CEBPB RCOR1 JUN GATA2 SGIP1 TCTEX1D1 ENSG00000248458 lnc-INSL5-3 piR-59769-020 PDE4B
GH01J066561 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +30.6 30563 4.6 CEBPA CEBPB FOXA2 FOS ELK4 TEAD1 JUND FOSL1 EP300 POLR3A lnc-INSL5-3 SGIP1 TCTEX1D1 ENSG00000248458 PDE4B NONHSAG001742.2
GH01J066552 Enhancer 0.8 Ensembl ENCODE dbSUPER 26.4 +20.1 20054 2.4 PRDM6 ZNF664 RAD21 MZF1 SGIP1 lnc-INSL5-3 NONHSAG001742.2 TCTEX1D1
GH01J066539 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.2 +9.0 9040 6.4 CREB1 GATAD2A ZNF629 TFE3 SOX13 ZNF692 RCOR2 PRDM1 ZSCAN4 RXRB TCTEX1D1 SGIP1 ENSG00000248458 NONHSAG001742.2 lnc-INSL5-3
- 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:
SGIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for SGIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGIP1 Gene

Post-translational modifications for SGIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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)
genes like me logo Genes that share domains with SGIP1: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with SGIP1: view
genes like me logo Genes that share phenotypes with SGIP1: view

Animal Models for SGIP1 Gene

MGI Knock Outs for SGIP1:
  • Sgip1 Sgip1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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 SGIP1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
cytoskeleton 3
nucleus 3
extracellular 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SGIP1 Gene

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
genes like me logo Genes that share ontologies with SGIP1: view

Pathways & Interactions for SGIP1 Gene

genes like me logo Genes that share pathways with SGIP1: view

Gene Ontology (GO) - Biological Process for SGIP1 Gene

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
genes like me logo Genes that share ontologies with SGIP1: view

No data available for SIGNOR curated interactions for SGIP1 Gene

Drugs & Compounds for SGIP1 Gene

No Compound Related Data Available

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SGIP1

Alternative Splicing Database (ASD) splice patterns (SP) for SGIP1 Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SGIP1 Gene

Protein differential expression in normal tissues from HIPED for SGIP1 Gene

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



Protein tissue co-expression partners 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.132121

mRNA 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)
genes like me logo Genes that share expression patterns with SGIP1: view

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.

Orthologs for SGIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SGIP1 30 31
  • 96.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SGIP1 30 31
  • 94.12 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SGIP1 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SGIP1 30 31
  • 93.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sgip1 30
  • 91.37 (n)
Mouse
(Mus musculus)
Mammalia Sgip1 30 17 31
  • 90.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SGIP1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SGIP1 30 31
  • 76.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SGIP1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sgip1 30
  • 75.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC566542 30
  • 68.61 (n)
SGIP1 31
  • 59 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG8176 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea fcho-1 31
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
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

Paralogs for SGIP1 Gene

(2) SIMAP similar genes for SGIP1 Gene using alignment to 5 proteins:

  • SGIP1_HUMAN
  • F6R8P8_HUMAN
  • F8WD01_HUMAN
  • H9KV65_HUMAN
  • Q6ZV33_HUMAN
genes like me logo Genes that share paralogs with SGIP1: view

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

Additional dbSNP identifiers (rs#s) for SGIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SGIP1 Gene

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

Variation tolerance for SGIP1 Gene

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

  1. 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
  2. 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
  3. 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
  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
  5. 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

Products for SGIP1 Gene

Sources for SGIP1 Gene