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Protein

Germ cell-specific gene 1-like protein

Gene

GSG1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.By similarity

Protein family/group databases

TCDBi8.A.16.5.3. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Germ cell-specific gene 1-like protein
Short name:
GSG1-like protein
Gene namesi
Name:GSG1L
ORF Names:UNQ5831/PRO19651
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:28283. GSG1L.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 8CytoplasmicSequence analysis8
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Topological domaini30 – 132ExtracellularSequence analysisAdd BLAST103
Transmembranei133 – 153HelicalSequence analysisAdd BLAST21
Topological domaini154 – 173CytoplasmicSequence analysisAdd BLAST20
Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Topological domaini195 – 217ExtracellularSequence analysisAdd BLAST23
Transmembranei218 – 238HelicalSequence analysisAdd BLAST21
Topological domaini239 – 331CytoplasmicSequence analysisAdd BLAST93

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Synapse

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000169181.
PharmGKBiPA145148734.

Polymorphism and mutation databases

BioMutaiGSG1L.
DMDMi187471161.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003294641 – 331Germ cell-specific gene 1-like proteinAdd BLAST331

Proteomic databases

PaxDbiQ6UXU4.
PRIDEiQ6UXU4.

PTM databases

iPTMnetiQ6UXU4.
PhosphoSitePlusiQ6UXU4.

Expressioni

Gene expression databases

BgeeiENSG00000169181.
CleanExiHS_GSG1L.
ExpressionAtlasiQ6UXU4. baseline and differential.
GenevisibleiQ6UXU4. HS.

Organism-specific databases

HPAiHPA014479.

Interactioni

Subunit structurei

Component of the inner core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
LXNQ9BS403EBI-10297401,EBI-1044504

Protein-protein interaction databases

BioGridi126983. 1 interactor.
IntActiQ6UXU4. 1 interactor.
STRINGi9606.ENSP00000394954.

Structurei

3D structure databases

ProteinModelPortaliQ6UXU4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi57 – 76Ala-richAdd BLAST20

Sequence similaritiesi

Belongs to the GSG1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGAK. Eukaryota.
ENOG410ZXFF. LUCA.
GeneTreeiENSGT00390000011933.
HOGENOMiHOG000112826.
HOVERGENiHBG069545.
InParanoidiQ6UXU4.
OMAiRANCPNS.
OrthoDBiEOG091G0FIO.
PhylomeDBiQ6UXU4.
TreeFamiTF331388.

Family and domain databases

InterProiIPR012478. GSG-1.
[Graphical view]
PfamiPF07803. GSG-1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6UXU4-1) [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
MKTSRRGRAL LAVALNLLAL LFATTAFLTT HWCQGTQRVP KPGCGQGGRA
60 70 80 90 100
NCPNSGANAT ANGTAAPAAA AAAATASGNG PPGGALYSWE TGDDRFLFRN
110 120 130 140 150
FHTGIWYSCE EELSGLGEKC RSFIDLAPAS EKGVLWLSVV SEVLYILLLV
160 170 180 190 200
VGFSLMCLEL FHSSNVIDGL KLNAFAAVFT VLSGLLGMVA HMMYTQVFQV
210 220 230 240 250
TVSLGPEDWR PHSWDYGWSF CLAWGSFTCC MAASVTTLNS YTKTVIEFRH
260 270 280 290 300
KRKVFEQGYR EEPTFIDPEA IKYFRERMEK RDGSEEDFHL DCRHERYPAR
310 320 330
HQPHMADSWP RSSAQEAPEL NRQCWVLGHW V
Length:331
Mass (Da):36,774
Last modified:April 29, 2008 - v2
Checksum:i7CAC097C9DF7FBCB
GO
Isoform 2 (identifier: Q6UXU4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-183: Missing.

Show »
Length:280
Mass (Da):31,250
Checksum:i0FEF923418CB3831
GO
Isoform 3 (identifier: Q6UXU4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.
     277-277: R → RWQIEAQRGRATCPRSHSW

Show »
Length:194
Mass (Da):22,738
Checksum:i3B0AB145D1FAB663
GO
Isoform 4 (identifier: Q6UXU4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.

Show »
Length:176
Mass (Da):20,586
Checksum:i408A16130B3F252C
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0335161 – 155Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST155
Alternative sequenceiVSP_033004133 – 183Missing in isoform 2. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_033517277R → RWQIEAQRGRATCPRSHSW in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358206 mRNA. Translation: AAQ88573.1.
AY302134 mRNA. Translation: AAP57626.1.
AC008732 Genomic DNA. No translation available.
AC009030 Genomic DNA. No translation available.
AC130449 Genomic DNA. No translation available.
CH471145 Genomic DNA. Translation: EAW55740.1.
BC016460 mRNA. Translation: AAH16460.1.
CCDSiCCDS10631.1. [Q6UXU4-2]
CCDS45450.1. [Q6UXU4-1]
CCDS81960.1. [Q6UXU4-3]
RefSeqiNP_001103233.1. NM_001109763.1. [Q6UXU4-1]
NP_001310830.1. NM_001323901.1. [Q6UXU4-3]
NP_653276.1. NM_144675.2. [Q6UXU4-2]
UniGeneiHs.91910.

Genome annotation databases

EnsembliENST00000380897; ENSP00000370282; ENSG00000169181. [Q6UXU4-2]
ENST00000395724; ENSP00000379074; ENSG00000169181. [Q6UXU4-3]
ENST00000447459; ENSP00000394954; ENSG00000169181. [Q6UXU4-1]
ENST00000569166; ENSP00000454880; ENSG00000169181. [Q6UXU4-4]
GeneIDi146395.
KEGGihsa:146395.
UCSCiuc002doy.3. human. [Q6UXU4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358206 mRNA. Translation: AAQ88573.1.
AY302134 mRNA. Translation: AAP57626.1.
AC008732 Genomic DNA. No translation available.
AC009030 Genomic DNA. No translation available.
AC130449 Genomic DNA. No translation available.
CH471145 Genomic DNA. Translation: EAW55740.1.
BC016460 mRNA. Translation: AAH16460.1.
CCDSiCCDS10631.1. [Q6UXU4-2]
CCDS45450.1. [Q6UXU4-1]
CCDS81960.1. [Q6UXU4-3]
RefSeqiNP_001103233.1. NM_001109763.1. [Q6UXU4-1]
NP_001310830.1. NM_001323901.1. [Q6UXU4-3]
NP_653276.1. NM_144675.2. [Q6UXU4-2]
UniGeneiHs.91910.

3D structure databases

ProteinModelPortaliQ6UXU4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126983. 1 interactor.
IntActiQ6UXU4. 1 interactor.
STRINGi9606.ENSP00000394954.

Protein family/group databases

TCDBi8.A.16.5.3. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

PTM databases

iPTMnetiQ6UXU4.
PhosphoSitePlusiQ6UXU4.

Polymorphism and mutation databases

BioMutaiGSG1L.
DMDMi187471161.

Proteomic databases

PaxDbiQ6UXU4.
PRIDEiQ6UXU4.

Protocols and materials databases

DNASUi146395.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380897; ENSP00000370282; ENSG00000169181. [Q6UXU4-2]
ENST00000395724; ENSP00000379074; ENSG00000169181. [Q6UXU4-3]
ENST00000447459; ENSP00000394954; ENSG00000169181. [Q6UXU4-1]
ENST00000569166; ENSP00000454880; ENSG00000169181. [Q6UXU4-4]
GeneIDi146395.
KEGGihsa:146395.
UCSCiuc002doy.3. human. [Q6UXU4-1]

Organism-specific databases

CTDi146395.
GeneCardsiGSG1L.
H-InvDBHIX0012917.
HGNCiHGNC:28283. GSG1L.
HPAiHPA014479.
neXtProtiNX_Q6UXU4.
OpenTargetsiENSG00000169181.
PharmGKBiPA145148734.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGAK. Eukaryota.
ENOG410ZXFF. LUCA.
GeneTreeiENSGT00390000011933.
HOGENOMiHOG000112826.
HOVERGENiHBG069545.
InParanoidiQ6UXU4.
OMAiRANCPNS.
OrthoDBiEOG091G0FIO.
PhylomeDBiQ6UXU4.
TreeFamiTF331388.

Miscellaneous databases

ChiTaRSiGSG1L. human.
GenomeRNAii146395.
PROiQ6UXU4.

Gene expression databases

BgeeiENSG00000169181.
CleanExiHS_GSG1L.
ExpressionAtlasiQ6UXU4. baseline and differential.
GenevisibleiQ6UXU4. HS.

Family and domain databases

InterProiIPR012478. GSG-1.
[Graphical view]
PfamiPF07803. GSG-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGSG1L_HUMAN
AccessioniPrimary (citable) accession number: Q6UXU4
Secondary accession number(s): Q7Z6F8, Q8TB81
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: November 2, 2016
This is version 90 of the entry and version 2 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 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.