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Q9NR46 (SHLB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Endophilin-B2
Alternative name(s):
SH3 domain-containing GRB2-like protein B2
Gene names
Name:SH3GLB2
Synonyms:KIAA1848
ORF Names:PP578
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length395 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Homodimer, and heterodimer with SH3GLB1. Ref.1

Subcellular location

Cytoplasm Ref.1.

Tissue specificity

Detected in skeletal muscle, adipocyte, brain, lung, colon and mammary gland. Ref.1

Sequence similarities

Belongs to the endophilin family.

Contains 1 BAR domain.

Contains 1 SH3 domain.

Sequence caution

The sequence AAG23792.1 differs from that shown. Reason: Frameshift at positions 122 and 128.

The sequence BAB47477.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
SH3 domain
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from direct assay Ref.1. Source: HGNC

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SH3GLB1Q9Y3715EBI-749607,EBI-2623095

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NR46-1)

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: Q9NR46-2)

The sequence of this isoform differs from the canonical sequence as follows:
     187-187: T → TCEGD
     280-280: R → SSQGAI
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 395395Endophilin-B2
PRO_0000146755

Regions

Domain24 – 287264BAR
Domain335 – 39561SH3
Region1 – 2727Membrane-binding amphipathic helix By similarity
Coiled coil116 – 13217 Potential
Coiled coil206 – 24035 Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.7

Natural variations

Alternative sequence1871T → TCEGD in isoform 2.
VSP_009278
Alternative sequence2801R → SSQGAI in isoform 2.
VSP_009279
Natural variant3051A → V.
Corresponds to variant rs17455482 [ dbSNP | Ensembl ].
VAR_053078
Natural variant3191P → L.
Corresponds to variant rs17455475 [ dbSNP | Ensembl ].
VAR_053079

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: 5549631DB2EB7CAA

FASTA39543,974
        10         20         30         40         50         60 
MDFNMKKLAS DAGIFFTRAV QFTEEKFGQA EKTELDAHFE NLLARADSTK NWTEKILRQT 

        70         80         90        100        110        120 
EVLLQPNPSA RVEEFLYEKL DRKVPSRVTN GELLAQYMAD AASELGPTTP YGKTLIKVAE 

       130        140        150        160        170        180 
AEKQLGAAER DFIHTASISF LTPLRNFLEG DWKTISKERR LLQNRRLDLD ACKARLKKAK 

       190        200        210        220        230        240 
AAEAKATTVP DFQETRPRNY ILSASASALW NDEVDKAEQE LRVAQTEFDR QAEVTRLLLE 

       250        260        270        280        290        300 
GISSTHVNHL RCLHEFVKSQ TTYYAQCYRH MLDLQKQLGR FPGTFVGTTE PASPPLSSTS 

       310        320        330        340        350        360 
PTTAAATMPV VPSVASLAPP GEASLCLEEV APPASGTRKA RVLYDYEAAD SSELALLADE 

       370        380        390 
LITVYSLPGM DPDWLIGERG NKKGKVPVTY LELLS 

« Hide

Isoform 2 [UniParc].

Checksum: 830D75563D5896D3
Show »

FASTA40444,766

References

« Hide 'large scale' references
[1]"SH3GLB, a new endophilin-related protein family featuring an SH3 domain."
Pierrat B., Simonen M., Cueto M., Mestan J., Ferrigno P., Heim J.
Genomics 71:222-234(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, HOMODIMERIZATION, INTERACTION WITH SH3GLB1.
Tissue: Adipocyte and Skeletal muscle.
[2]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [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 1).
Tissue: Lymph.
[6]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF257319 mRNA. Translation: AAF81226.1.
AB058751 mRNA. Translation: BAB47477.2. Different initiation.
AF258589 mRNA. Translation: AAG23792.1. Frameshift.
AL592211 Genomic DNA. Translation: CAI12365.1.
AL592211 Genomic DNA. Translation: CAI12366.1.
BC014635 mRNA. Translation: AAH14635.1.
RefSeqNP_001273974.1. NM_001287045.1.
NP_001273975.1. NM_001287046.1.
NP_064530.1. NM_020145.3.
XP_005252158.1. XM_005252101.2.
UniGeneHs.460238.

3D structure databases

ProteinModelPortalQ9NR46.
SMRQ9NR46. Positions 15-283, 334-395.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121234. 27 interactions.
IntActQ9NR46. 15 interactions.
MINTMINT-1458485.
STRING9606.ENSP00000361640.

PTM databases

PhosphoSiteQ9NR46.

Polymorphism databases

DMDM41018150.

Proteomic databases

PaxDbQ9NR46.
PRIDEQ9NR46.

Protocols and materials databases

DNASU56904.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372554; ENSP00000361634; ENSG00000148341. [Q9NR46-2]
ENST00000372559; ENSP00000361640; ENSG00000148341. [Q9NR46-1]
ENST00000372564; ENSP00000361645; ENSG00000148341. [Q9NR46-1]
GeneID56904.
KEGGhsa:56904.
UCSCuc004bwv.3. human. [Q9NR46-1]
uc004bww.3. human. [Q9NR46-2]

Organism-specific databases

CTD56904.
GeneCardsGC09M131769.
H-InvDBHIX0008444.
HGNCHGNC:10834. SH3GLB2.
HPAHPA021438.
HPA024734.
MIM609288. gene.
neXtProtNX_Q9NR46.
PharmGKBPA35740.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309804.
HOGENOMHOG000232056.
HOVERGENHBG054448.
KOK11248.
OMAHTASINF.
OrthoDBEOG744T9N.
PhylomeDBQ9NR46.
TreeFamTF313281.

Gene expression databases

ArrayExpressQ9NR46.
BgeeQ9NR46.
CleanExHS_SH3GLB2.
GenevestigatorQ9NR46.

Family and domain databases

Gene3D1.20.1270.60. 2 hits.
InterProIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
IPR028500. SH3GLB2.
[Graphical view]
PANTHERPTHR10661:SF14. PTHR10661:SF14. 1 hit.
PfamPF03114. BAR. 1 hit.
[Graphical view]
SMARTSM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 2 hits.
PROSITEPS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSH3GLB2.
GenomeRNAi56904.
NextBio62367.
PROQ9NR46.
SOURCESearch...

Entry information

Entry nameSHLB2_HUMAN
AccessionPrimary (citable) accession number: Q9NR46
Secondary accession number(s): A6NC47 expand/collapse secondary AC list , A8MPS4, Q8WY61, Q96JH9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 112 of the entry and version 1 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 9

Human chromosome 9: entries, gene names and cross-references to MIM