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Aliases for SGIP1 Gene

Aliases for SGIP1 Gene

  • SH3 Domain GRB2 Like Endophilin Interacting Protein 1 2 3 5
  • Endophilin-3-Interacting Protein 4

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 (SH3 Domain GRB2 Like Endophilin Interacting Protein 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. GO annotations related to this gene include microtubule binding and phospholipid binding. An important paralog of this gene is FCHO2.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGIP1 Gene

Genomics for SGIP1 Gene

Regulatory Elements for SGIP1 Gene

Enhancers for SGIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G066561 1.7 FANTOM5 Ensembl ENCODE dbSUPER 24.4 +30.8 30760 4.4 FOXA2 RARA GTF3C2 POLR3A GATA2 FOS ELK4 CEBPB ZNF398 NFIC SGIP1 TCTEX1D1 ENSG00000248458 PDE4B GC01M066494 GC01P066578
GH01G066552 0.9 ENCODE dbSUPER 26.4 +20.4 20440 1.8 MTA2 NR2F2 HIC1 PRDM6 ZNF692 SMARCA4 ZNF629 PBX2 HNF4A SGIP1 GC01M066494
GH01G066571 0.8 ENCODE dbSUPER 21 +38.8 38793 0.9 JUND JUN BHLHE40 FOS SGIP1 ENSG00000248458 GC01P066578 GC01M066494
GH01G066539 1 Ensembl ENCODE dbSUPER 15.2 +7.3 7266 2.0 ZNF366 ZNF341 PRDM1 TRIM28 SGIP1 TCTEX1D1 ENSG00000248458 GC01M066494
GH01G066542 1.5 Ensembl ENCODE dbSUPER 8.8 +10.0 9956 2.0 PKNOX1 FOXA2 ATF1 ARID4B FEZF1 DMAP1 ZNF2 YY1 FOS SP5 TCTEX1D1 SGIP1 GC01M066494
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGIP1 on UCSC Golden Path with GeneCards custom track

Promoters for SGIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000008108 789 1800 SIN3A RAD21 TCF12 ZNF366 FOS CREM ZNF398 REST NFIC SMARCA4

Genomic Location for SGIP1 Gene

Chromosome:
1
Start:
66,533,311 bp from pter
End:
66,748,999 bp from pter
Size:
215,689 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=Translation N-terminally shortened.; 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

Protein Domains for SGIP1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families 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.

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 ISS,IEA --
GO:0015631 tubulin binding IEA --
GO:0017124 SH3 domain binding IPI 20946875
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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
nucleus 3

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:0005886 plasma membrane IDA 20946875
GO:0005905 clathrin-coated pit IEA,IDA 20946875
GO:0016020 membrane IEA --
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:0048260 positive regulation of receptor-mediated endocytosis IEA,ISS --
GO:0061024 membrane organization TAS --
GO:0097320 plasma membrane tubulation IEA --
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

Unigene Clusters for SGIP1 Gene

SH3-domain GRB2-like (endophilin) interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
SGIP1

Expression for SGIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SGIP1 Gene



Protein tissue co-expression partners for SGIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGIP1 Gene:

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(4.7)
  • Intestine(4.1)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with SGIP1: view

Primer 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.

Orthologs for SGIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGIP1 34 35
  • 96.54 (n)
dog
(Canis familiaris)
Mammalia SGIP1 34 35
  • 94.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGIP1 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGIP1 34 35
  • 93.68 (n)
rat
(Rattus norvegicus)
Mammalia Sgip1 34
  • 91.37 (n)
mouse
(Mus musculus)
Mammalia Sgip1 34 16 35
  • 90.96 (n)
oppossum
(Monodelphis domestica)
Mammalia SGIP1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGIP1 34 35
  • 76.18 (n)
lizard
(Anolis carolinensis)
Reptilia SGIP1 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgip1 34
  • 75.45 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC566542 34
  • 68.61 (n)
SGIP1 35
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8176 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fcho-1 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for SGIP1 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)
  • 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 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)

Paralogs for SGIP1 Gene

Paralogs for SGIP1 Gene

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

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 from dbSNP and Humsavar for SGIP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000020074 -- 66,571,236(+) CTAGG(A/G)CATTA intron-variant
rs1000021957 -- 66,593,093(+) TTTAA(A/C/G)CTTAT intron-variant
rs1000055697 -- 66,747,956(+) ATATA(A/G)CTTTG nc-transcript-variant, utr-variant-3-prime
rs1000067061 -- 66,631,713(+) TCTCT(C/T)TCTCT intron-variant
rs1000075939 -- 66,708,483(+) AGCAA(A/G)TGTAC intron-variant

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)

Relevant External Links for SGIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGIP1

Disorders for SGIP1 Gene

Relevant External Links for SGIP1

Genetic Association Database (GAD)
SGIP1
Human Genome Epidemiology (HuGE) Navigator
SGIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGIP1

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. Towards 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 Res. 2001) 2 3 4 64
  2. Structural basis for the recognition of two consecutive mutually interacting DPF motifs by the SGIP1 mu homology domain. (PMID: 26822536) Shimada A. … Kohda D. (Sci. Rep. 2016) 3 4 64
  3. Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass. (PMID: 21407171) Cummings N. … Jowett J.B. (Int. J. Obes. Relat. Metab. Disord. 2012) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PMID: 20946875) Dergai O. … Rynditch A. (Biochem. Biophys. Res. Commun. 2010) 3 4 64

Products for SGIP1 Gene

Sources for SGIP1 Gene

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