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Q9BQI5

- SGIP1_HUMAN

UniProt

Q9BQI5 - SGIP1_HUMAN

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Protein
SH3-containing GRB2-like protein 3-interacting protein 1
Gene
SGIP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. SH3 domain binding Source: UniProtKB
  2. microtubule binding Source: UniProtKB
  3. phospholipid binding Source: UniProtKB
  4. protein binding Source: UniProtKB

GO - Biological processi

  1. endocytosis Source: UniProtKB-KW
  2. positive regulation of energy homeostasis Source: UniProtKB
  3. positive regulation of feeding behavior Source: UniProtKB
  4. positive regulation of receptor-mediated endocytosis Source: UniProtKB
  5. response to dietary excess Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
SH3-containing GRB2-like protein 3-interacting protein 1
Alternative name(s):
Endophilin-3-interacting protein
Gene namesi
Name:SGIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:25412. SGIP1.

Subcellular locationi

Membraneclathrin-coated pit; Peripheral membrane protein; Cytoplasmic side Inferred 1 Publication

GO - Cellular componenti

  1. AP-2 adaptor complex Source: UniProtKB
  2. clathrin-coated vesicle Source: UniProtKB
  3. coated pit Source: UniProtKB
  4. cytoplasm Source: LIFEdb
  5. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134909202.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 828828SH3-containing GRB2-like protein 3-interacting protein 1
PRO_0000248395Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei300 – 3001Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9BQI5.
PRIDEiQ9BQI5.

PTM databases

PhosphoSiteiQ9BQI5.

Expressioni

Tissue specificityi

Specifically expressed in brain.1 Publication

Gene expression databases

ArrayExpressiQ9BQI5.
BgeeiQ9BQI5.
GenevestigatoriQ9BQI5.

Organism-specific databases

HPAiHPA017963.

Interactioni

Subunit structurei

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 REPS1.2 Publications

Protein-protein interaction databases

BioGridi123979. 4 interactions.
IntActiQ9BQI5. 1 interaction.
MINTiMINT-4534029.

Structurei

3D structure databases

ProteinModelPortaliQ9BQI5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini559 – 827269MHD
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni649 – 828180Necessary and sufficient to mediate interaction with CANX By similarity
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi106 – 1127Poly-Glu
Compositional biasi176 – 499324Pro-rich
Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG324072.
HOVERGENiHBG081524.
OMAiNTEEKWV.
OrthoDBiEOG712TVK.
PhylomeDBiQ9BQI5.
TreeFamiTF328986.

Family and domain databases

InterProiIPR028565. MHD.
IPR018808. Muniscin_C.
[Graphical view]
PfamiPF10291. muHD. 1 hit.
[Graphical view]
SUPFAMiSSF49447. SSF49447. 1 hit.
PROSITEiPS51072. MHD. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BQI5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MMEGLKKRTR KAFGIRKKEK DTDSTGSPDR DGIQPSPHEP PYNSKAECAR    50
EGGKKVSKKS NGAPNGFYAE IDWERYNSPE LDEEGYSIRP EEPGSTKGKH 100
FYSSSESEEE EESHKKFNIK IKPLQSKDIL KNAATVDELK ASIGNIALSP 150
SPVRKSPRRS PGAIKRNLSS EEVARPRRST PTPELISKKP PDDTTALAPL 200
FGPPLESAFD EQKTEVLLDQ PEIWGSGQPI NPSMESPKLT RPFPTGTPPP 250
LPPKNVPATP PRTGSPLTIG PGNDQSATEV KIEKLPSIND LDSIFGPVLS 300
PKSVAVNAEE KWVHFSDTSP EHVTPELTPR EKVVSPPATP DNPADSPAPG 350
PLGPPGPTGP PGPPGPPRNV LSPLNLEEVQ KKVAEQTFIK DDYLETISSP 400
KDFGLGQRAT PPPPPPPTYR TVVSSPGPGS GPGPGTTSGA SSPARPATPL 450
VPCRSTTPPP PPPRPPSRPK LPPGKPGVGD VSRPFSPPIH SSSPPPIAPL 500
ARAESTSSIS STNSLSAATT PTVENEQPSL VWFDRGKFYL TFEGSSRGPS 550
PLTMGAQDTL PVAAAFTETV NAYFKGADPS KCIVKITGEM VLSFPAGITR 600
HFANNPSPAA LTFRVINFSR LEHVLPNPQL LCCDNTQNDA NTKEFWVNMP 650
NLMTHLKKVS EQKPQATYYN VDMLKYQVSA QGIQSTPLNL AVNWRCEPSS 700
TDLRIDYKYN TDAMTTAVAL NNVQFLVPID GGVTKLQAVL PPAVWNAEQQ 750
RILWKIPDIS QKSENGGVGS LLARFQLSEG PSKPSPLVVQ FTSEGSTLSG 800
CDIELVGAGY RFSLIKKRFA AGKYLADN 828
Length:828
Mass (Da):89,109
Last modified:September 5, 2006 - v2
Checksum:i86D2B6AE3099CDEA
GO
Isoform 2 (identifier: Q9BQI5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     35-57: PSPHEPPYNSKAECAREGGKKVS → GKKKTQKTQLLLTSCFWLRALSLTLSQ

Show »
Length:832
Mass (Da):89,734
Checksum:i67A0B74D0A09918D
GO
Isoform 3 (identifier: Q9BQI5-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:859
Mass (Da):92,646
Checksum:i823A19AEAB727F86
GO
Isoform 4 (identifier: Q9BQI5-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-57: Missing.
     154-161: Missing.
     272-438: Missing.

Show »
Length:629
Mass (Da):68,240
Checksum:iB42E8BBA6AF8B3A2
GO
Isoform 5 (identifier: Q9BQI5-5) [UniParc]FASTAAdd to Basket

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

Show »
Length:631
Mass (Da):68,338
Checksum:iAA5403263C766B24
GO

Sequence cautioni

The sequence BAE06121.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Polymorphismi

Genetic variation in SGIP1 is associated with fat mass and SGIP1 may be a determinant of obesity-related traits.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121E → Q.
Corresponds to variant rs17490057 [ dbSNP | Ensembl ].
VAR_027297
Natural varianti131 – 1311K → R.3 Publications
Corresponds to variant rs7526812 [ dbSNP | Ensembl ].
VAR_027298
Natural varianti161 – 1611P → Q.1 Publication
Corresponds to variant rs17855645 [ dbSNP | Ensembl ].
VAR_027299
Natural varianti575 – 5751K → E.1 Publication
Corresponds to variant rs17854026 [ dbSNP | Ensembl ].
VAR_027300

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei34 – 5724Missing in isoform 4 and isoform 5.
VSP_020273Add
BLAST
Alternative sequencei35 – 5723PSPHE…GKKVS → GKKKTQKTQLLLTSCFWLRA LSLTLSQ in isoform 2 and isoform 3.
VSP_020274Add
BLAST
Alternative sequencei154 – 1618Missing in isoform 4 and isoform 5.
VSP_020275
Alternative sequencei272 – 438167Missing in isoform 4 and isoform 5.
VSP_020276Add
BLAST
Alternative sequencei437 – 4371T → TSDGKTEAQRYQVICPSLQA GGNELDSY in isoform 3.
VSP_020277
Alternative sequencei524 – 54320ENEQP…YLTFE → VSEDDVFYDKLPSFERRCET PA in isoform 5.
VSP_020278Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti81 – 811L → V in CAH18344. 1 Publication
Sequence conflicti212 – 2121Q → R in CAH18344. 1 Publication
Sequence conflicti498 – 4981A → V in CAH18344. 1 Publication
Sequence conflicti772 – 7721L → S in CAH18344. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS30744.1. [Q9BQI5-1]
RefSeqiNP_115667.2. NM_032291.2. [Q9BQI5-1]
XP_005271321.1. XM_005271264.2. [Q9BQI5-2]
XP_005271327.1. XM_005271270.2. [Q9BQI5-4]
UniGeneiHs.132121.

Genome annotation databases

EnsembliENST00000237247; ENSP00000237247; ENSG00000118473. [Q9BQI5-3]
ENST00000371037; ENSP00000360076; ENSG00000118473. [Q9BQI5-1]
ENST00000371039; ENSP00000360078; ENSG00000118473. [Q9BQI5-5]
GeneIDi84251.
KEGGihsa:84251.
UCSCiuc001dcr.3. human. [Q9BQI5-1]
uc009wat.3. human. [Q9BQI5-3]

Polymorphism databases

DMDMi114152158.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS30744.1. [Q9BQI5-1 ]
RefSeqi NP_115667.2. NM_032291.2. [Q9BQI5-1 ]
XP_005271321.1. XM_005271264.2. [Q9BQI5-2 ]
XP_005271327.1. XM_005271270.2. [Q9BQI5-4 ]
UniGenei Hs.132121.

3D structure databases

ProteinModelPortali Q9BQI5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123979. 4 interactions.
IntActi Q9BQI5. 1 interaction.
MINTi MINT-4534029.

PTM databases

PhosphoSitei Q9BQI5.

Polymorphism databases

DMDMi 114152158.

Proteomic databases

PaxDbi Q9BQI5.
PRIDEi Q9BQI5.

Protocols and materials databases

DNASUi 84251.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000237247 ; ENSP00000237247 ; ENSG00000118473 . [Q9BQI5-3 ]
ENST00000371037 ; ENSP00000360076 ; ENSG00000118473 . [Q9BQI5-1 ]
ENST00000371039 ; ENSP00000360078 ; ENSG00000118473 . [Q9BQI5-5 ]
GeneIDi 84251.
KEGGi hsa:84251.
UCSCi uc001dcr.3. human. [Q9BQI5-1 ]
uc009wat.3. human. [Q9BQI5-3 ]

Organism-specific databases

CTDi 84251.
GeneCardsi GC01P066999.
H-InvDB HIX0000678.
HGNCi HGNC:25412. SGIP1.
HPAi HPA017963.
MIMi 611540. gene.
neXtProti NX_Q9BQI5.
PharmGKBi PA134909202.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG324072.
HOVERGENi HBG081524.
OMAi NTEEKWV.
OrthoDBi EOG712TVK.
PhylomeDBi Q9BQI5.
TreeFami TF328986.

Miscellaneous databases

ChiTaRSi SGIP1. human.
GeneWikii SGIP1.
GenomeRNAii 84251.
NextBioi 73748.
PROi Q9BQI5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BQI5.
Bgeei Q9BQI5.
Genevestigatori Q9BQI5.

Family and domain databases

InterProi IPR028565. MHD.
IPR018808. Muniscin_C.
[Graphical view ]
Pfami PF10291. muHD. 1 hit.
[Graphical view ]
SUPFAMi SSF49447. SSF49447. 1 hit.
PROSITEi PS51072. MHD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., 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. Cited for: POLYMORPHISM.

Entry informationi

Entry nameiSGIP1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQI5
Secondary accession number(s): A6NL81
, A6NLD1, Q4LE32, Q5VYE2, Q5VYE3, Q5VYE4, Q68D76, Q6MZY6, Q8IWC2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 5, 2006
Last modified: July 9, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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