Q9NSN8 (SNTG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-1-syntrophin
Short name=G1SYN

Alternative name(s):
Syntrophin-4
Short name=SYN4

Gene names

Name:

SNTG1

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	517 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex By similarity. May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation.
Subunit structure	Isoform 1, but not isoform 2, interacts with the dystrophin protein DMD and related proteins DTNA and DTNB. Interacts with DGKZ. Ref.1 Ref.4
Subcellular location	Cytoplasm › cytoskeleton. Nucleus. Note: Mainly cytoplasmic and weakly nuclear.
Tissue specificity	Brain specific. In CNS, it is expressed in the perikaryon and proximal portion of the neuronal processes. Strong expression in the hippocampus, neuron-rich dendate granule cells, and pyramidal cell layers. Highly expressed in neurons of the cerebral cortex. Also expressed in the cerebellar cortex, deep cerebellar nuclei, thalamus, and basal ganglia. No expression in muscle cells. Ref.1
Domain	The PDZ domain binds to the last three or four amino acids of DGKZ. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane.
Sequence similarities	Belongs to the syntrophin family. Contains 1 PDZ (DHR) domain. Contains 1 PH domain.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing
Ligand	Actin-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell communication Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cytoplasm Inferred from direct assay PubMed 15485858. Source: UniProtKB cytoskeleton Inferred from direct assay. Source: LIFEdb nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell ruffle membrane Inferred from direct assay PubMed 15485858. Source: UniProtKB syntrophin complex Traceable author statement Ref.1. Source: ProtInc
Molecular_function	phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NSN8-1)

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: Q9NSN8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     428-464: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 517	517	Gamma-1-syntrophin		PRO_0000184013
Regions
	Domain	57 – 140	84	PDZ
	Domain	283 – 390	108	PH
Natural variations
	Alternative sequence	428 – 464	37	Missing in isoform 2.		VSP_006360

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: FB0C87AB18CB5D79	FASTA	517	57,969
	10 20 30 40 50 60 MDFRTACEET KTGICLLQDG NQEPFKVRLH LAKDILMIQE QDVICVSGEP FYSGERTVTI 70 80 90 100 110 120 RRQTVGGFGL SIKGGAEHNI PVVVSKISKE QRAELSGLLF IGDAILQING INVRKCRHEE 130 140 150 160 170 180 VVQVLRNAGE EVTLTVSFLK RAPAFLKLPL NEDCACAPSD QSSGTSSPLC DSGLHLNYHP 190 200 210 220 230 240 NNTDTLSCSS WPTSPGLRWE KRWCDLRLIP LLHSRFSQYV PGTDLSRQNA FQVIAVDGVC 250 260 270 280 290 300 TGIIQCLSAE DCVDWLQAIA TNISNLTKHN IKKINRNFPV NQQIVYMGWC EAREQDPLQD 310 320 330 340 350 360 RVYSPTFLAL RGSCLYKFLA PPVTTWDWTR AEKTFSVYEI MCKILKDSDL LDRRKQCFTV 370 380 390 400 410 420 QSESGEDLYF SVELESDLAQ WERAFQTATF LEVERIQCKT YACVLESHLM GLTIDFSTGF 430 440 450 460 470 480 ICFDAATKAV LWRYKFSQLK GSSDDGKSKI KFLFQNPDTK QIEAKELEFS NLFAVLHCIH 490 500 510 SFFAAKVACL DPLFLGNQAT ASTAASSATT SKAKYTT
	Isoform 2 [UniParc]. Checksum: 6DC6FF96D40EC447	FASTA	480	53,684
	10 20 30 40 50 60 MDFRTACEET KTGICLLQDG NQEPFKVRLH LAKDILMIQE QDVICVSGEP FYSGERTVTI 70 80 90 100 110 120 RRQTVGGFGL SIKGGAEHNI PVVVSKISKE QRAELSGLLF IGDAILQING INVRKCRHEE 130 140 150 160 170 180 VVQVLRNAGE EVTLTVSFLK RAPAFLKLPL NEDCACAPSD QSSGTSSPLC DSGLHLNYHP 190 200 210 220 230 240 NNTDTLSCSS WPTSPGLRWE KRWCDLRLIP LLHSRFSQYV PGTDLSRQNA FQVIAVDGVC 250 260 270 280 290 300 TGIIQCLSAE DCVDWLQAIA TNISNLTKHN IKKINRNFPV NQQIVYMGWC EAREQDPLQD 310 320 330 340 350 360 RVYSPTFLAL RGSCLYKFLA PPVTTWDWTR AEKTFSVYEI MCKILKDSDL LDRRKQCFTV 370 380 390 400 410 420 QSESGEDLYF SVELESDLAQ WERAFQTATF LEVERIQCKT YACVLESHLM GLTIDFSTGF 430 440 450 460 470 480 ICFDAATKEL EFSNLFAVLH CIHSFFAAKV ACLDPLFLGN QATASTAASS ATTSKAKYTT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells." Piluso G., Mirabella M., Ricci E., Belsito A., Abbondanza C., Servidei S., Puca A.A., Tonali P., Puca G.A., Nigro V. J. Biol. Chem. 275:15851-15860(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, INTERACTION WITH DMD; DTNA AND DTNB. Tissue: Fetal brain and Neuron.
[2]	"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] (ISOFORM 1). Tissue: Amygdala.
[3]	"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: Brain.
[4]	"Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions." Hogan A., Shepherd L., Chabot J., Quenneville S., Prescott S.M., Topham M.K., Gee S.H. J. Biol. Chem. 276:26526-26533(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DGKZ.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ003030 mRNA. Translation: CAB92968.1. AL161971 mRNA. Translation: CAB82311.1. BC075072 mRNA. Translation: AAH75072.1. BC104829 mRNA. Translation: AAI04830.1.
IPI	IPI00071897. IPI00216531.
PIR	T47134.
RefSeq	NP_061840.1. NM_018967.2.
UniGene	Hs.584914.
3D structure databases
ProteinModelPortal	Q9NSN8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000342804.
PTM databases
PhosphoSite	Q9NSN8.
Polymorphism databases
DMDM	23822220.
Proteomic databases
PaxDb	Q9NSN8.
PRIDE	Q9NSN8.
Protocols and materials databases
DNASU	54212.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000276467; ENSP00000276467; ENSG00000147481. ENST00000517473; ENSP00000431123; ENSG00000147481. ENST00000518864; ENSP00000429276; ENSG00000147481. ENST00000522124; ENSP00000429842; ENSG00000147481.
GeneID	54212.
KEGG	hsa:54212.
UCSC	uc003xqs.1. human. uc010lxz.1. human.
Organism-specific databases
CTD	54212.
GeneCards	GC08P050874.
HGNC	HGNC:13740. SNTG1.
MIM	608714. gene.
neXtProt	NX_Q9NSN8.
PharmGKB	PA37806.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253217.
HOGENOM	HOG000230749.
HOVERGEN	HBG060412.
InParanoid	Q9NSN8.
OMA	EQDPLQD.
OrthoDB	EOG4J6RQP.
Gene expression databases
ArrayExpress	Q9NSN8.
Bgee	Q9NSN8.
CleanEx	HS_SNTG1.
Genevestigator	Q9NSN8.
GermOnline	ENSG00000147481. Homo sapiens.
Family and domain databases
Gene3D	2.30.29.30. 1 hit.
InterPro	IPR001478. PDZ. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR015482. Syntrophin. IPR015483. Syntrophin_gamma. [Graphical view]
PANTHER	PTHR10554. PTHR10554. 1 hit. PTHR10554:SF2. PTHR10554:SF2. 1 hit.
Pfam	PF00595. PDZ. 1 hit. [Graphical view]
SMART	SM00228. PDZ. 1 hit. SM00233. PH. 2 hits. [Graphical view]
SUPFAM	SSF50156. PDZ. 1 hit.
PROSITE	PS50106. PDZ. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	54212.
NextBio	56550.
SOURCE	Search...

Entry information

Entry name

SNTG1_HUMAN

Accession

Primary (citable) accession number: Q9NSN8
Secondary accession number(s): Q2M3Q0, Q9NY98

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 105 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.