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Q9BQI5 (SGIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
SH3-containing GRB2-like protein 3-interacting protein 1
Alternative name(s):
Endophilin-3-interacting protein
Gene names
Name:SGIP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length828 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Membraneclathrin-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 MHD (mu homology) domain.

Sequence caution

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

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 828828SH3-containing GRB2-like protein 3-interacting protein 1
PRO_0000248395

Regions

Domain559 – 827269MHD
Region649 – 828180Necessary and sufficient to mediate interaction with CANX By similarity
Compositional bias106 – 1127Poly-Glu
Compositional bias176 – 499324Pro-rich

Amino acid modifications

Modified residue3001Phosphoserine By similarity

Natural variations

Alternative sequence34 – 5724Missing in isoform 4 and isoform 5.
VSP_020273
Alternative sequence35 – 5723PSPHE…GKKVS → GKKKTQKTQLLLTSCFWLRA LSLTLSQ in isoform 2 and isoform 3.
VSP_020274
Alternative sequence154 – 1618Missing in isoform 4 and isoform 5.
VSP_020275
Alternative sequence272 – 438167Missing in isoform 4 and isoform 5.
VSP_020276
Alternative sequence4371T → TSDGKTEAQRYQVICPSLQA GGNELDSY in isoform 3.
VSP_020277
Alternative sequence524 – 54320ENEQP…YLTFE → VSEDDVFYDKLPSFERRCET PA in isoform 5.
VSP_020278
Natural variant1121E → Q.
Corresponds to variant rs17490057 [ dbSNP | Ensembl ].
VAR_027297
Natural variant1311K → R. Ref.1 Ref.2 Ref.3
Corresponds to variant rs7526812 [ dbSNP | Ensembl ].
VAR_027298
Natural variant1611P → Q. Ref.5
Corresponds to variant rs17855645 [ dbSNP | Ensembl ].
VAR_027299
Natural variant5751K → E. Ref.5
Corresponds to variant rs17854026 [ dbSNP | Ensembl ].
VAR_027300

Experimental info

Sequence conflict811L → V in CAH18344. Ref.3
Sequence conflict2121Q → R in CAH18344. Ref.3
Sequence conflict4981A → V in CAH18344. Ref.3
Sequence conflict7721L → S in CAH18344. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 5, 2006. Version 2.
Checksum: 86D2B6AE3099CDEA

FASTA82889,109
        10         20         30         40         50         60 
MMEGLKKRTR KAFGIRKKEK DTDSTGSPDR DGIQPSPHEP PYNSKAECAR EGGKKVSKKS 

        70         80         90        100        110        120 
NGAPNGFYAE IDWERYNSPE LDEEGYSIRP EEPGSTKGKH FYSSSESEEE EESHKKFNIK 

       130        140        150        160        170        180 
IKPLQSKDIL KNAATVDELK ASIGNIALSP SPVRKSPRRS PGAIKRNLSS EEVARPRRST 

       190        200        210        220        230        240 
PTPELISKKP PDDTTALAPL FGPPLESAFD EQKTEVLLDQ PEIWGSGQPI NPSMESPKLT 

       250        260        270        280        290        300 
RPFPTGTPPP LPPKNVPATP PRTGSPLTIG PGNDQSATEV KIEKLPSIND LDSIFGPVLS 

       310        320        330        340        350        360 
PKSVAVNAEE KWVHFSDTSP EHVTPELTPR EKVVSPPATP DNPADSPAPG PLGPPGPTGP 

       370        380        390        400        410        420 
PGPPGPPRNV LSPLNLEEVQ KKVAEQTFIK DDYLETISSP KDFGLGQRAT PPPPPPPTYR 

       430        440        450        460        470        480 
TVVSSPGPGS GPGPGTTSGA SSPARPATPL VPCRSTTPPP PPPRPPSRPK LPPGKPGVGD 

       490        500        510        520        530        540 
VSRPFSPPIH SSSPPPIAPL ARAESTSSIS STNSLSAATT PTVENEQPSL VWFDRGKFYL 

       550        560        570        580        590        600 
TFEGSSRGPS PLTMGAQDTL PVAAAFTETV NAYFKGADPS KCIVKITGEM VLSFPAGITR 

       610        620        630        640        650        660 
HFANNPSPAA LTFRVINFSR LEHVLPNPQL LCCDNTQNDA NTKEFWVNMP NLMTHLKKVS 

       670        680        690        700        710        720 
EQKPQATYYN VDMLKYQVSA QGIQSTPLNL AVNWRCEPSS TDLRIDYKYN TDAMTTAVAL 

       730        740        750        760        770        780 
NNVQFLVPID GGVTKLQAVL PPAVWNAEQQ RILWKIPDIS QKSENGGVGS LLARFQLSEG 

       790        800        810        820 
PSKPSPLVVQ FTSEGSTLSG CDIELVGAGY RFSLIKKRFA AGKYLADN 

« Hide

Isoform 2 [UniParc].

Checksum: 67A0B74D0A09918D
Show »

FASTA83289,734
Isoform 3 [UniParc].

Checksum: 823A19AEAB727F86
Show »

FASTA85992,646
Isoform 4 [UniParc].

Checksum: B42E8BBA6AF8B3A2
Show »

FASTA62968,240
Isoform 5 [UniParc].

Checksum: AA5403263C766B24
Show »

FASTA63168,338

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. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., 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. expand/collapse author list , 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]"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.
RefSeqNP_115667.2. NM_032291.2.
XP_005271321.1. XM_005271264.2.
XP_005271327.1. XM_005271270.2.
UniGeneHs.132121.

3D structure databases

ProteinModelPortalQ9BQI5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123979. 4 interactions.
IntActQ9BQI5. 1 interaction.
MINTMINT-4534029.

PTM databases

PhosphoSiteQ9BQI5.

Polymorphism databases

DMDM114152158.

Proteomic databases

PaxDbQ9BQI5.
PRIDEQ9BQI5.

Protocols and materials databases

DNASU84251.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000237247; ENSP00000237247; ENSG00000118473. [Q9BQI5-3]
ENST00000371037; ENSP00000360076; ENSG00000118473. [Q9BQI5-1]
ENST00000371039; ENSP00000360078; ENSG00000118473. [Q9BQI5-5]
GeneID84251.
KEGGhsa:84251.
UCSCuc001dcr.3. human. [Q9BQI5-1]
uc009wat.3. human. [Q9BQI5-3]

Organism-specific databases

CTD84251.
GeneCardsGC01P066999.
H-InvDBHIX0000678.
HGNCHGNC:25412. SGIP1.
HPAHPA017963.
MIM611540. gene.
neXtProtNX_Q9BQI5.
PharmGKBPA134909202.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG324072.
HOVERGENHBG081524.
OMANTEEKWV.
OrthoDBEOG712TVK.
PhylomeDBQ9BQI5.
TreeFamTF328986.

Gene expression databases

ArrayExpressQ9BQI5.
BgeeQ9BQI5.
GenevestigatorQ9BQI5.

Family and domain databases

InterProIPR028565. MHD.
IPR018808. Muniscin_C.
[Graphical view]
PfamPF10291. muHD. 1 hit.
[Graphical view]
SUPFAMSSF49447. SSF49447. 1 hit.
PROSITEPS51072. MHD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSGIP1. human.
GeneWikiSGIP1.
GenomeRNAi84251.
NextBio73748.
PROQ9BQI5.
SOURCESearch...

Entry information

Entry nameSGIP1_HUMAN
AccessionPrimary (citable) accession number: Q9BQI5
Secondary accession number(s): A6NL81 expand/collapse secondary AC list , A6NLD1, Q4LE32, Q5VYE2, Q5VYE3, Q5VYE4, Q68D76, Q6MZY6, Q8IWC2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 5, 2006
Last modified: April 16, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM