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SGIP1 SH3GL interacting endocytic adaptor 1 [ Homo sapiens (human) ]

Gene ID: 84251, updated on 1-Jun-2020

Summary

Official Symbol
SGIP1provided by HGNC
Official Full Name
SH3GL interacting endocytic adaptor 1provided by HGNC
Primary source
HGNC:HGNC:25412
See related
Ensembl:ENSG00000118473 MIM:611540
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Biased expression in brain (RPKM 8.0), endometrium (RPKM 2.4) and 11 other tissues See more
Orthologs

Genomic context

See SGIP1 in Genome Data Viewer
Location:
1p31.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (66533361..66751139)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (66999066..67210768)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 4B Neighboring gene RNA, U4 small nuclear 88, pseudogene Neighboring gene uncharacterized LOC105378776 Neighboring gene microRNA 3117 Neighboring gene Tctex1 domain containing 1 Neighboring gene insulin like 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of early menopause and the combined impact of identified variants.
NHGRI GWA Catalog
Genome-wide association study of antiphospholipid antibodies.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33378, FLJ43054, DKFZp761D221, DKFZp686A16142

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
cytoskeletal protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
clathrin coat assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
positive regulation of feeding behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
response to dietary excess ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
AP-2 adaptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
clathrin-coated pit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated pit IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
SH3-containing GRB2-like protein 3-interacting protein 1
Names
SH3 domain GRB2 like endophilin interacting protein 1
endophilin-3-interacting protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001308203.2NP_001295132.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001295132.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which has the same N- and C-termini, but has some distinct internal segments, is lacking other internal segments, and is shorter than isoform 1.
    Source sequence(s)
    AL136561, AL354978, AW205180, BC040516, BX640813
    Consensus CDS
    CCDS76171.1
    UniProtKB/Swiss-Prot
    Q9BQI5
    Related
    ENSP00000360078.1, ENST00000371039.5
    Conserved Domains (1) summary
    cd09266
    Location:364630
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  2. NM_001350217.2NP_001337146.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region, but also lacks an alternate exon in the 5' coding region, compared to variant 1. This variant encodes isoform 3, which has the same N- and C-termini, but is four aa longer than isoform 1.
    Source sequence(s)
    AB210039, AL136561, AL354978, AW205180, BC040516, DA491011
    Related
    ENSP00000237247.6, ENST00000237247.10
    Conserved Domains (1) summary
    cd09266
    Location:565831
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  3. NM_001350218.2NP_001337147.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. This variant encodes isoform 4, which has the same N- and C-termini, but is shorter than isoform 1.
    Source sequence(s)
    AK299941, AL136561, AL354978, AW205180
    Conserved Domains (1) summary
    cd09266
    Location:370636
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  4. NM_001376534.1NP_001363463.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  5. NM_001376535.1NP_001363464.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  6. NM_001376536.1NP_001363465.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  7. NM_001376537.1NP_001363466.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  8. NM_001376538.1NP_001363467.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  9. NM_001376539.1NP_001363468.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  10. NM_001376540.1NP_001363469.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  11. NM_001376541.1NP_001363470.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  12. NM_001376542.1NP_001363471.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  13. NM_001376543.1NP_001363472.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  14. NM_001376544.1NP_001363473.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  15. NM_001376545.1NP_001363474.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  16. NM_001376546.1NP_001363475.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  17. NM_001376547.1NP_001363476.1  SH3-containing GRB2-like protein 3-interacting protein 1 isofom 11

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  18. NM_001376548.1NP_001363477.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  19. NM_001376549.1NP_001363478.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  20. NM_001376550.1NP_001363479.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  21. NM_001376551.1NP_001363480.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  22. NM_001376552.1NP_001363481.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  23. NM_001376554.1NP_001363483.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  24. NM_001376555.1NP_001363484.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL354978, AL356913
  25. NM_001376556.1NP_001363485.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 16

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL356913
  26. NM_001376557.1NP_001363486.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 17

    Status: VALIDATED

    Source sequence(s)
    AL139147, AL356913
  27. NM_032291.4NP_115667.2  SH3-containing GRB2-like protein 3-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_115667.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL136561, AL354978, AW205180, BC040516, DA491011
    Consensus CDS
    CCDS30744.1
    UniProtKB/Swiss-Prot
    Q9BQI5
    Related
    ENSP00000360076.3, ENST00000371037.9
    Conserved Domains (1) summary
    cd09266
    Location:561827
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    66533361..66751139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002508.1XP_016857997.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X2

  2. XM_017002506.1XP_016857995.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X1

  3. XM_017002510.1XP_016857999.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X3

  4. XM_017002516.1XP_016858005.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X8

  5. XM_017002524.1XP_016858013.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X15

  6. XM_017002528.1XP_016858017.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X22

  7. XM_005271270.4XP_005271327.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X29

    See identical proteins and their annotated locations for XP_005271327.1

    UniProtKB/Swiss-Prot
    Q9BQI5
    Conserved Domains (1) summary
    cd09266
    Location:362628
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  8. XM_017002523.1XP_016858012.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X13

  9. XM_017002507.1XP_016857996.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X2

  10. XM_017002513.1XP_016858002.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X6

  11. XM_011542291.1XP_011540593.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X18

    See identical proteins and their annotated locations for XP_011540593.1

    Conserved Domains (1) summary
    cd09266
    Location:393659
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  12. XM_011542292.1XP_011540594.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X24

    See identical proteins and their annotated locations for XP_011540594.1

    Conserved Domains (1) summary
    cd09266
    Location:373639
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  13. XM_006710961.2XP_006711024.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X4

    See identical proteins and their annotated locations for XP_006711024.1

    Conserved Domains (1) summary
    cd09266
    Location:567833
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  14. XM_006710971.2XP_006711034.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X16

    See identical proteins and their annotated locations for XP_006711034.1

    Conserved Domains (1) summary
    cd09266
    Location:400666
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  15. XM_017002529.1XP_016858018.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X23

  16. XM_006710973.2XP_006711036.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X19

    See identical proteins and their annotated locations for XP_006711036.1

    Conserved Domains (1) summary
    cd09266
    Location:392658
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  17. XM_017002505.1XP_016857994.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X1

  18. XM_024450227.1XP_024305995.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X14

    Conserved Domains (1) summary
    cd09266
    Location:416682
    SGIP1_MHD; mu-homology domain (MHD) of Scr homology 3 (SH3)-domain growth factor receptor-bound 2 (GRB2)-like (endophilin) interacting protein 1 (also known as endophilin-3-interacting protein, SGIP1) and similar proteins
  19. XM_017002530.1XP_016858019.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X25

  20. XM_017002509.1XP_016857998.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X3

  21. XM_017002536.1XP_016858025.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X30

  22. XM_017002520.1XP_016858009.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X12

  23. XM_017002532.1XP_016858021.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X26

  24. XM_017002515.1XP_016858004.1  SH3-containing GRB2-like protein 3-interacting protein 1 isoform X8

RNA

  1. XR_001737483.1 RNA Sequence

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