Q9BQI5 (SGIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: SH3-containing GRB2-like protein 3-interacting protein 1 Alternative name(s): Endophilin-3-interacting protein | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 828 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. |
| Subunit 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. Ref.6 Ref.7 |
| Subcellular location | Membrane › clathrin-coated pit; Peripheral membrane protein; Cytoplasmic side Probable Ref.7. |
| Tissue specificity | Specifically expressed in brain. Ref.6 |
| Polymorphism | Genetic variation in SGIP1 is associated with fat mass and SGIP1 may be a determinant of obesity-related traits. |
| Sequence similarities | Contains 1 MUHD (Muniscin C-terminal mu homology domain) domain. |
| Sequence caution | The sequence BAE06121.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BQI5-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9BQI5-2) The sequence of this isoform differs from the canonical sequence as follows: 35-57: PSPHEPPYNSKAECAREGGKKVS → GKKKTQKTQLLLTSCFWLRALSLTLSQ | ||||||
| Isoform 3 (identifier: Q9BQI5-3) The sequence of this isoform differs from the canonical sequence as follows: 35-57: PSPHEPPYNSKAECAREGGKKVS → GKKKTQKTQLLLTSCFWLRALSLTLSQ 437-437: T → TSDGKTEAQRYQVICPSLQAGGNELDSY | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9BQI5-4) The sequence of this isoform differs from the canonical sequence as follows: 34-57: Missing. 154-161: Missing. 272-438: Missing. | ||||||
| Isoform 5 (identifier: Q9BQI5-5) The sequence of this isoform differs from the canonical sequence as follows: 34-57: Missing. 154-161: Missing. 272-438: Missing. 524-543: ENEQPSLVWFDRGKFYLTFE → VSEDDVFYDKLPSFERRCETPA |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 828 | 828 | SH3-containing GRB2-like protein 3-interacting protein 1 | PRO_0000248395 | |||||
Regions | |||||||||
| Domain | 559 – 826 | 268 | MUHD | ||||||
| Region | 649 – 828 | 180 | Necessary and sufficient to mediate interaction with CANX By similarity | ||||||
| Compositional bias | 106 – 112 | 7 | Poly-Glu | ||||||
| Compositional bias | 176 – 499 | 324 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 169 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 180 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 182 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 259 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 263 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 265 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 268 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 287 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 300 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 316 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 319 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 324 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 372 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 410 | 1 | Phosphothreonine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 34 – 57 | 24 | Missing in isoform 4 and isoform 5. | VSP_020273 | |||||
| Alternative sequence | 35 – 57 | 23 | PSPHE…GKKVS → GKKKTQKTQLLLTSCFWLRA LSLTLSQ in isoform 2 and isoform 3. | VSP_020274 | |||||
| Alternative sequence | 154 – 161 | 8 | Missing in isoform 4 and isoform 5. | VSP_020275 | |||||
| Alternative sequence | 272 – 438 | 167 | Missing in isoform 4 and isoform 5. | VSP_020276 | |||||
| Alternative sequence | 437 | 1 | T → TSDGKTEAQRYQVICPSLQA GGNELDSY in isoform 3. | VSP_020277 | |||||
| Alternative sequence | 524 – 543 | 20 | ENEQP…YLTFE → VSEDDVFYDKLPSFERRCET PA in isoform 5. | VSP_020278 | |||||
| Natural variant | 112 | 1 | E → Q. Corresponds to variant rs17490057 [ dbSNP | Ensembl ]. | VAR_027297 | |||||
| Natural variant | 131 | 1 | K → R. Ref.1 Ref.2 Ref.3 Corresponds to variant rs7526812 [ dbSNP | Ensembl ]. | VAR_027298 | |||||
| Natural variant | 161 | 1 | P → Q. Ref.5 Corresponds to variant rs17855645 [ dbSNP | Ensembl ]. | VAR_027299 | |||||
| Natural variant | 575 | 1 | K → E. Ref.5 Corresponds to variant rs17854026 [ dbSNP | Ensembl ]. | VAR_027300 | |||||
Experimental info | |||||||||
| Sequence conflict | 81 | 1 | L → V in CAH18344. Ref.3 | ||||||
| Sequence conflict | 212 | 1 | Q → R in CAH18344. Ref.3 | ||||||
| Sequence conflict | 498 | 1 | A → V in CAH18344. Ref.3 | ||||||
| Sequence conflict | 772 | 1 | L → S in CAH18344. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-131. Tissue: Amygdala. |
| [2] | "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method." Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ARG-131. Tissue: Brain. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), VARIANT ARG-131. Tissue: Colon endothelium and Small intestine. |
| [4] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS GLN-161 AND GLU-575. Tissue: Hippocampus. |
| [6] | "Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1, a novel neuronal protein that regulates energy balance." Trevaskis J., Walder K., Foletta V., Kerr-Bayles L., McMillan J., Cooper A., Lee S., Bolton K., Prior M., Fahey R., Whitecross K., Morton G.J., Schwartz M.W., Collier G.R. Endocrinology 146:3757-3764(2005) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INTERACTION WITH SH3GL3. |
| [7] | "Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits." Dergai O., Novokhatska O., Dergai M., Skrypkina I., Tsyba L., Moreau J., Rynditch A. Biochem. Biophys. Res. Commun. 402:408-413(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH AMPH; ITSN1 AND REPS1, SUBCELLULAR LOCATION. |
| [8] | "Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass." Cummings N., Shields K.A., Curran J.E., Bozaoglu K., Trevaskis J., Gluschenko K., Cai G., Comuzzie A.G., Dyer T.D., Walder K.R., Zimmet P., Collier G.R., Blangero J., Jowett J.B. Int. J. Obes. Relat. Metab. Disord. 36:201-206(2012) [PubMed] [Europe PMC] [Abstract] Cited for: POLYMORPHISM. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL136561 mRNA. Translation: CAB66496.1. AB210039 mRNA. Translation: BAE06121.1. Different initiation. BX640813 mRNA. Translation: CAE45891.1. CR749541 mRNA. Translation: CAH18344.1. AL354978, AL139147, AL356913 Genomic DNA. Translation: CAH71845.1. AL354978, AL139147, AL356913 Genomic DNA. Translation: CAH71846.1. AL354978, AL139147, AL356913 Genomic DNA. Translation: CAH71847.1. AL139147, AL354978, AL356913 Genomic DNA. Translation: CAI21942.1. AL139147, AL354978, AL356913 Genomic DNA. Translation: CAI21943.1. AL139147, AL354978, AL356913 Genomic DNA. Translation: CAI21944.1. AL356913, AL139147, AL354978 Genomic DNA. Translation: CAI22672.1. AL356913, AL139147, AL354978 Genomic DNA. Translation: CAI22673.1. AL356913, AL139147, AL354978 Genomic DNA. Translation: CAI22674.1. BC040516 mRNA. Translation: AAH40516.1. |
| IPI | IPI00031087. IPI00217265. IPI00426076. IPI00784625. IPI00785188. |
| RefSeq | NP_115667.2. NM_032291.2. |
| UniGene | Hs.132121. |
3D structure databases | |
| ProteinModelPortal | Q9BQI5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BQI5. 1 interaction. |
PTM databases | |
| PhosphoSite | Q9BQI5. |
Polymorphism databases | |
| DMDM | 114152158. |
Proteomic databases | |
| PaxDb | Q9BQI5. |
| PRIDE | Q9BQI5. |
Protocols and materials databases | |
| DNASU | 84251. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000237247; ENSP00000237247; ENSG00000118473. ENST00000371037; ENSP00000360076; ENSG00000118473. ENST00000371039; ENSP00000360078; ENSG00000118473. |
| GeneID | 84251. |
| KEGG | hsa:84251. |
| UCSC | uc001dcr.3. human. |
Organism-specific databases | |
| CTD | 84251. |
| GeneCards | GC01P066999. |
| H-InvDB | HIX0000678. |
| HGNC | HGNC:25412. SGIP1. |
| HPA | HPA017963. |
| MIM | 611540. gene. |
| neXtProt | NX_Q9BQI5. |
| PharmGKB | PA134909202. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG324072. |
| HOVERGEN | HBG081524. |
| OMA | NTEEKWV. |
Gene expression databases | |
| ArrayExpress | Q9BQI5. |
| Bgee | Q9BQI5. |
| Genevestigator | Q9BQI5. |
| GermOnline | ENSG00000118473. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR018808. Muniscin_C-term_mu_dom. [Graphical view] |
| Pfam | PF10291. muHD. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SGIP1. human. |
| GenomeRNAi | 84251. |
| NextBio | 73748. |
| SOURCE | Search... |
Entry information
| Entry name | SGIP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BQI5 Secondary accession number(s): A6NL81 Q8IWC2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
