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Aliases for SGIP1 Gene

Aliases for SGIP1 Gene

  • SH3-Domain GRB2-Like (Endophilin) Interacting Protein 1 2 3
  • 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. GO annotations related to this gene include microtubule binding and phospholipid binding. An important paralog of this gene is FCHO1.

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 (By similarity).

Gene Wiki entry for SGIP1 Gene

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

Genomics for SGIP1 Gene

Regulatory Elements for SGIP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with CANX (By similarity). Interacts with AP2A1 (By similarity). Interacts with EPS15 (By similarity). Interacts with SH3GL3. Interacts with AMPH. Interacts with ITSN1 (via SH3 domains). Interacts with and REPS1.
    SequenceCaution:
    • Sequence=BAE06121.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SGIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGIP1 Gene

Proteomics data for SGIP1 Gene at MOPED

Post-translational modifications for SGIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SGIP1 Gene

No data available for DME Specific Peptides for SGIP1 Gene

Domains & Families for SGIP1 Gene

Protein Domains for SGIP1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BQI5

UniProtKB/Swiss-Prot:

SGIP1_HUMAN :
  • Contains 1 MHD (mu homology) domain.
Domain:
  • Contains 1 MHD (mu homology) domain.
genes like me logo Genes that share domains with SGIP1: view

No data available for Gene Families 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 (By similarity).

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 ISS --
GO:0008017 microtubule binding ISS --
GO:0015631 tubulin binding --
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 Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGIP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for SGIP1 Gene COMPARTMENTS Subcellular localization image for SGIP1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SGIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA 20946875
GO:0005905 coated pit IDA 20946875
GO:0030122 AP-2 adaptor complex ISS --
GO:0030136 clathrin-coated vesicle ISS --
genes like me logo Genes that share ontologies with SGIP1: view

Pathways & Interactions for SGIP1 Gene

SuperPathways for SGIP1 Gene

No Data Available

Interacting Proteins for SGIP1 Gene

Gene Ontology (GO) - Biological Process for SGIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002021 response to dietary excess --
GO:0006897 endocytosis --
GO:0048260 positive regulation of receptor-mediated endocytosis ISS --
GO:0072583 clathrin-mediated endocytosis IEA --
GO:0097320 membrane tubulation IEA --
genes like me logo Genes that share ontologies with SGIP1: view

No data available for Pathways by source and 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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGIP1

Flow Cytometry 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 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



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

Protein tissue co-expression partners for SGIP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia SGIP1 35
  • 93.68 (n)
  • 96.7 (a)
SGIP1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGIP1 35
  • 94.12 (n)
  • 96.86 (a)
SGIP1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgip1 35
  • 90.96 (n)
  • 94.67 (a)
Sgip1 16
Sgip1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SGIP1 35
  • 96.54 (n)
  • 95.89 (a)
SGIP1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgip1 35
  • 91.37 (n)
  • 95.77 (a)
oppossum
(Monodelphis domestica)
Mammalia SGIP1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGIP1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGIP1 35
  • 76.18 (n)
  • 84.41 (a)
SGIP1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGIP1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgip1 35
  • 75.45 (n)
  • 81.97 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC566542 35
  • 68.61 (n)
  • 74.09 (a)
SGIP1 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8176 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fcho-1 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for SGIP1:
  • 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

Q9BQI5-SGIP1_HUMAN
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 MAF
rs16844 -- 66,695,201(+) AACAC(A/G)TTCCC intron-variant
rs20353 -- 66,605,700(-) AAAAA(A/C)CTTGA intron-variant
rs20354 -- 66,605,673(-) AAATA(A/C)CAGCT intron-variant
rs473470 -- 66,739,644(+) CTGTG(C/T)ATTAG intron-variant
rs475762 -- 66,747,743(+) CAGTA(A/G)AATAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv1210 CNV Loss 18451855
esv2749364 CNV Deletion 23290073
nsv1221 CNV Loss 18451855
esv2749375 CNV Deletion 23290073
nsv1232 CNV Insertion 18451855
nsv160302 CNV Loss 16902084
nsv830093 CNV Gain 17160897
esv997677 CNV Deletion 20482838
esv2571464 CNV Deletion 19546169
esv2094631 CNV Deletion 18987734
esv2749386 CNV Deletion 23290073
esv4277 CNV Deletion 18987735
esv6908 CNV Loss 19470904
esv2749397 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with SGIP1: view

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 67
  2. A genome-wide association study of early menopause and the combined impact of identified variants. (PMID: 23307926) Perry J.R. … Murray A. (Hum. Mol. Genet. 2013) 67
  3. Genome-wide association study of antiphospholipid antibodies. (PMID: 23509613) Kamboh M.I. … Demirci F.Y. (Autoimmune Dis 2013) 67
  4. 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) 67
  5. Nonreplication of an association of SGIP1 SNPs with alcohol dependence and resting theta EEG power. (PMID: 21317682) Derringer J. … Bierut L.J. (Psychiatr. Genet. 2011) 67

Products for SGIP1 Gene

Sources for SGIP1 Gene

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