Q9NR46 (SHLB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Endophilin-B2

Alternative name(s):
SH3 domain-containing GRB2-like protein B2

Gene names

Name:	SH3GLB2
Synonyms:	KIAA1848
ORF Names:	PP578

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	395 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil SH3 domain
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from direct assay Ref.1. Source: HGNC nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SH3GLB1	Q9Y371	5	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 395	395	Endophilin-B2		PRO_0000146755
Regions
	Domain	24 – 287	264	BAR
	Domain	335 – 395	61	SH3
	Region	1 – 27	27	Membrane-binding amphipathic helix By similarity
	Coiled coil	116 – 132	17	Potential
	Coiled coil	206 – 240	35	Potential
Natural variations
	Alternative sequence	187	1	T → TCEGD in isoform 2.		VSP_009278
	Alternative sequence	280	1	R → SSQGAI in isoform 2.		VSP_009279
	Natural variant	305	1	A → V. Corresponds to variant rs17455482 [ dbSNP | Ensembl ].		VAR_053078
	Natural variant	319	1	P → L. Corresponds to variant rs17455475 [ dbSNP | Ensembl ].		VAR_053079

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 5549631DB2EB7CAA	FASTA	395	43,974
	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
	Isoform 2 [UniParc]. Checksum: 830D75563D5896D3	FASTA	404	44,766
	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 AAEAKATCEG DTVPDFQETR PRNYILSASA SALWNDEVDK AEQELRVAQT EFDRQAEVTR 250 260 270 280 290 300 LLLEGISSTH VNHLRCLHEF VKSQTTYYAQ CYRHMLDLQK QLGSSQGAIF PGTFVGTTEP 310 320 330 340 350 360 ASPPLSSTSP TTAAATMPVV PSVASLAPPG EASLCLEEVA PPASGTRKAR VLYDYEAADS 370 380 390 400 SELALLADEL ITVYSLPGMD PDWLIGERGN KKGKVPVTYL ELLS

References

	« Hide 'large scale' referencesShow '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. , 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]	"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].
+	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.
IPI	IPI00024540. IPI00398828.
RefSeq	NP_064530.1. NM_020145.2.
UniGene	Hs.460238.
3D structure databases
ProteinModelPortal	Q9NR46.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NR46. 12 interactions.
MINT	MINT-1458485.
STRING	9606.ENSP00000361640.
PTM databases
PhosphoSite	Q9NR46.
Polymorphism databases
DMDM	41018150.
Proteomic databases
PaxDb	Q9NR46.
PRIDE	Q9NR46.
Protocols and materials databases
DNASU	56904.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372554; ENSP00000361634; ENSG00000148341. ENST00000372559; ENSP00000361640; ENSG00000148341. ENST00000372564; ENSP00000361645; ENSG00000148341.
GeneID	56904.
KEGG	hsa:56904.
UCSC	uc004bwv.3. human. uc004bww.3. human.
Organism-specific databases
CTD	56904.
GeneCards	GC09M131769.
H-InvDB	HIX0008444.
HGNC	HGNC:10834. SH3GLB2.
HPA	HPA021438. HPA024734.
MIM	609288. gene.
neXtProt	NX_Q9NR46.
PharmGKB	PA35740.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG309804.
HOGENOM	HOG000232056.
HOVERGEN	HBG054448.
KO	K11248.
OMA	ASALWND.
OrthoDB	EOG42FSHZ.
Gene expression databases
ArrayExpress	Q9NR46.
Bgee	Q9NR46.
CleanEx	HS_SH3GLB2.
Genevestigator	Q9NR46.
GermOnline	ENSG00000148341. Homo sapiens.
Family and domain databases
Gene3D	1.20.1270.60. 2 hits.
InterPro	IPR027267. AH/BAR-dom. IPR004148. BAR_dom. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view]
Pfam	PF03114. BAR. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view]
SMART	SM00721. BAR. 1 hit. SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF50044. SH3. 1 hit.
PROSITE	PS51021. BAR. 1 hit. PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	56904.
NextBio	62367.
SOURCE	Search...

Entry information

Entry name

SHLB2_HUMAN

Accession

Primary (citable) accession number: Q9NR46
Secondary accession number(s): A6NC47 , A8MPS4, Q8WY61, Q96JH9

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 16, 2004
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 103 of the entry and version 1 of the sequence. [Complete 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.