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Q9NR46

- SHLB2_HUMAN

UniProt

Q9NR46 - SHLB2_HUMAN

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Protein

Endophilin-B2

Gene

SH3GLB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Endophilin-B2
Alternative name(s):
SH3 domain-containing GRB2-like protein B2
Gene namesi
Name:SH3GLB2
Synonyms:KIAA1848
ORF Names:PP578
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:10834. SH3GLB2.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35740.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 395395Endophilin-B2PRO_0000146755Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9NR46.
PaxDbiQ9NR46.
PRIDEiQ9NR46.

PTM databases

PhosphoSiteiQ9NR46.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NR46.
CleanExiHS_SH3GLB2.
ExpressionAtlasiQ9NR46. baseline and differential.
GenevestigatoriQ9NR46.

Organism-specific databases

HPAiHPA021438.
HPA024734.

Interactioni

Subunit structurei

Homodimer, and heterodimer with SH3GLB1.

Binary interactionsi

WithEntry#Exp.IntActNotes
SH3GLB1Q9Y3715EBI-749607,EBI-2623095

Protein-protein interaction databases

BioGridi121234. 27 interactions.
IntActiQ9NR46. 15 interactions.
MINTiMINT-1458485.
STRINGi9606.ENSP00000361640.

Structurei

3D structure databases

ProteinModelPortaliQ9NR46.
SMRiQ9NR46. Positions 18-232, 334-395.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini24 – 287264BARPROSITE-ProRule annotationAdd
BLAST
Domaini335 – 39561SH3PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 2727Membrane-binding amphipathic helixBy similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili116 – 13217Sequence AnalysisAdd
BLAST
Coiled coili206 – 24035Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the endophilin family.Curated
Contains 1 BAR domain.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiNOG309804.
GeneTreeiENSGT00550000074464.
HOGENOMiHOG000232056.
HOVERGENiHBG054448.
InParanoidiQ9NR46.
KOiK11248.
OMAiHTASINF.
OrthoDBiEOG744T9N.
PhylomeDBiQ9NR46.
TreeFamiTF313281.

Family and domain databases

Gene3Di1.20.1270.60. 2 hits.
InterProiIPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
IPR028500. SH3GLB2.
[Graphical view]
PANTHERiPTHR10661:SF14. PTHR10661:SF14. 1 hit.
PfamiPF03114. BAR. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
SMARTiSM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 2 hits.
PROSITEiPS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NR46-1) [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

        10         20         30         40         50
MDFNMKKLAS DAGIFFTRAV QFTEEKFGQA EKTELDAHFE NLLARADSTK
60 70 80 90 100
NWTEKILRQT EVLLQPNPSA RVEEFLYEKL DRKVPSRVTN GELLAQYMAD
110 120 130 140 150
AASELGPTTP YGKTLIKVAE AEKQLGAAER DFIHTASISF LTPLRNFLEG
160 170 180 190 200
DWKTISKERR LLQNRRLDLD ACKARLKKAK AAEAKATTVP DFQETRPRNY
210 220 230 240 250
ILSASASALW NDEVDKAEQE LRVAQTEFDR QAEVTRLLLE GISSTHVNHL
260 270 280 290 300
RCLHEFVKSQ TTYYAQCYRH MLDLQKQLGR FPGTFVGTTE PASPPLSSTS
310 320 330 340 350
PTTAAATMPV VPSVASLAPP GEASLCLEEV APPASGTRKA RVLYDYEAAD
360 370 380 390
SSELALLADE LITVYSLPGM DPDWLIGERG NKKGKVPVTY LELLS
Length:395
Mass (Da):43,974
Last modified:October 1, 2000 - v1
Checksum:i5549631DB2EB7CAA
GO
Isoform 2 (identifier: Q9NR46-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:404
Mass (Da):44,766
Checksum:i830D75563D5896D3
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti305 – 3051A → V.
Corresponds to variant rs17455482 [ dbSNP | Ensembl ].
VAR_053078
Natural varianti319 – 3191P → L.
Corresponds to variant rs17455475 [ dbSNP | Ensembl ].
VAR_053079

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei187 – 1871T → TCEGD in isoform 2. 1 PublicationVSP_009278
Alternative sequencei280 – 2801R → SSQGAI in isoform 2. 1 PublicationVSP_009279

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS6916.1. [Q9NR46-1]
CCDS69680.1. [Q9NR46-2]
RefSeqiNP_001273974.1. NM_001287045.1. [Q9NR46-2]
NP_001273975.1. NM_001287046.1. [Q9NR46-1]
NP_064530.1. NM_020145.3. [Q9NR46-1]
XP_005252158.1. XM_005252101.2.
UniGeneiHs.460238.

Genome annotation databases

EnsembliENST00000372554; ENSP00000361634; ENSG00000148341. [Q9NR46-2]
ENST00000372559; ENSP00000361640; ENSG00000148341. [Q9NR46-1]
ENST00000372564; ENSP00000361645; ENSG00000148341. [Q9NR46-1]
GeneIDi56904.
KEGGihsa:56904.
UCSCiuc004bwv.3. human. [Q9NR46-1]
uc004bww.3. human. [Q9NR46-2]

Polymorphism databases

DMDMi41018150.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS6916.1. [Q9NR46-1 ]
CCDS69680.1. [Q9NR46-2 ]
RefSeqi NP_001273974.1. NM_001287045.1. [Q9NR46-2 ]
NP_001273975.1. NM_001287046.1. [Q9NR46-1 ]
NP_064530.1. NM_020145.3. [Q9NR46-1 ]
XP_005252158.1. XM_005252101.2.
UniGenei Hs.460238.

3D structure databases

ProteinModelPortali Q9NR46.
SMRi Q9NR46. Positions 18-232, 334-395.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121234. 27 interactions.
IntActi Q9NR46. 15 interactions.
MINTi MINT-1458485.
STRINGi 9606.ENSP00000361640.

PTM databases

PhosphoSitei Q9NR46.

Polymorphism databases

DMDMi 41018150.

Proteomic databases

MaxQBi Q9NR46.
PaxDbi Q9NR46.
PRIDEi Q9NR46.

Protocols and materials databases

DNASUi 56904.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372554 ; ENSP00000361634 ; ENSG00000148341 . [Q9NR46-2 ]
ENST00000372559 ; ENSP00000361640 ; ENSG00000148341 . [Q9NR46-1 ]
ENST00000372564 ; ENSP00000361645 ; ENSG00000148341 . [Q9NR46-1 ]
GeneIDi 56904.
KEGGi hsa:56904.
UCSCi uc004bwv.3. human. [Q9NR46-1 ]
uc004bww.3. human. [Q9NR46-2 ]

Organism-specific databases

CTDi 56904.
GeneCardsi GC09M131769.
H-InvDB HIX0008444.
HGNCi HGNC:10834. SH3GLB2.
HPAi HPA021438.
HPA024734.
MIMi 609288. gene.
neXtProti NX_Q9NR46.
PharmGKBi PA35740.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309804.
GeneTreei ENSGT00550000074464.
HOGENOMi HOG000232056.
HOVERGENi HBG054448.
InParanoidi Q9NR46.
KOi K11248.
OMAi HTASINF.
OrthoDBi EOG744T9N.
PhylomeDBi Q9NR46.
TreeFami TF313281.

Miscellaneous databases

GeneWikii SH3GLB2.
GenomeRNAii 56904.
NextBioi 62367.
PROi Q9NR46.
SOURCEi Search...

Gene expression databases

Bgeei Q9NR46.
CleanExi HS_SH3GLB2.
ExpressionAtlasi Q9NR46. baseline and differential.
Genevestigatori Q9NR46.

Family and domain databases

Gene3Di 1.20.1270.60. 2 hits.
InterProi IPR027267. AH/BAR-dom.
IPR004148. BAR_dom.
IPR001452. SH3_domain.
IPR028500. SH3GLB2.
[Graphical view ]
PANTHERi PTHR10661:SF14. PTHR10661:SF14. 1 hit.
Pfami PF03114. BAR. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view ]
SMARTi SM00721. BAR. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 2 hits.
PROSITEi PS51021. BAR. 1 hit.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSHLB2_HUMAN
AccessioniPrimary (citable) accession number: Q9NR46
Secondary accession number(s): A6NC47
, A8MPS4, Q8WY61, Q96JH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 117 of the entry and version 1 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 9
    Human chromosome 9: 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