Q6UXU4 (GSG1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Germ cell-specific gene 1-like protein
Short name=GSG1-like protein

Gene names

Name:	GSG1L
ORF Names:	UNQ5831/PRO19651

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	331 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating By similarity.
Subunit structure	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.
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity. Cell junction › synapse By similarity.
Sequence similarities	Belongs to the GSG1 family.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Membrane Synapse
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell synapse Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6UXU4-1)

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: Q6UXU4-3)

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

Isoform 3 (identifier: Q6UXU4-4)

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

Isoform 4 (identifier: Q6UXU4-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 331	331	Germ cell-specific gene 1-like protein		PRO_0000329464
Regions
	Topological domain	1 – 8	8	Cytoplasmic Potential
	Transmembrane	9 – 29	21	Helical; Potential
	Topological domain	30 – 132	103	Extracellular Potential
	Transmembrane	133 – 153	21	Helical; Potential
	Topological domain	154 – 173	20	Cytoplasmic Potential
	Transmembrane	174 – 194	21	Helical; Potential
	Topological domain	195 – 217	23	Extracellular Potential
	Transmembrane	218 – 238	21	Helical; Potential
	Topological domain	239 – 331	93	Cytoplasmic Potential
	Compositional bias	57 – 76	20	Ala-rich
Natural variations
	Alternative sequence	1 – 155	155	Missing in isoform 3 and isoform 4.		VSP_033516
	Alternative sequence	133 – 183	51	Missing in isoform 2.		VSP_033004
	Alternative sequence	277	1	R → RWQIEAQRGRATCPRSHSW in isoform 3.		VSP_033517

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 29, 2008. Version 2. Checksum: 7CAC097C9DF7FBCB	FASTA	331	36,774
	10 20 30 40 50 60 MKTSRRGRAL LAVALNLLAL LFATTAFLTT HWCQGTQRVP KPGCGQGGRA NCPNSGANAT 70 80 90 100 110 120 ANGTAAPAAA AAAATASGNG PPGGALYSWE TGDDRFLFRN FHTGIWYSCE EELSGLGEKC 130 140 150 160 170 180 RSFIDLAPAS EKGVLWLSVV SEVLYILLLV VGFSLMCLEL FHSSNVIDGL KLNAFAAVFT 190 200 210 220 230 240 VLSGLLGMVA HMMYTQVFQV TVSLGPEDWR PHSWDYGWSF CLAWGSFTCC MAASVTTLNS 250 260 270 280 290 300 YTKTVIEFRH KRKVFEQGYR EEPTFIDPEA IKYFRERMEK RDGSEEDFHL DCRHERYPAR 310 320 330 HQPHMADSWP RSSAQEAPEL NRQCWVLGHW V
	Isoform 2 [UniParc]. Checksum: 0FEF923418CB3831	FASTA	280	31,250
	10 20 30 40 50 60 MKTSRRGRAL LAVALNLLAL LFATTAFLTT HWCQGTQRVP KPGCGQGGRA NCPNSGANAT 70 80 90 100 110 120 ANGTAAPAAA AAAATASGNG PPGGALYSWE TGDDRFLFRN FHTGIWYSCE EELSGLGEKC 130 140 150 160 170 180 RSFIDLAPAS EKGLLGMVAH MMYTQVFQVT VSLGPEDWRP HSWDYGWSFC LAWGSFTCCM 190 200 210 220 230 240 AASVTTLNSY TKTVIEFRHK RKVFEQGYRE EPTFIDPEAI KYFRERMEKR DGSEEDFHLD 250 260 270 280 CRHERYPARH QPHMADSWPR SSAQEAPELN RQCWVLGHWV
	Isoform 3 [UniParc]. Checksum: 3B0AB145D1FAB663	FASTA	194	22,738
	10 20 30 40 50 60 MCLELFHSSN VIDGLKLNAF AAVFTVLSGL LGMVAHMMYT QVFQVTVSLG PEDWRPHSWD 70 80 90 100 110 120 YGWSFCLAWG SFTCCMAASV TTLNSYTKTV IEFRHKRKVF EQGYREEPTF IDPEAIKYFR 130 140 150 160 170 180 ERWQIEAQRG RATCPRSHSW MEKRDGSEED FHLDCRHERY PARHQPHMAD SWPRSSAQEA 190 PELNRQCWVL GHWV
	Isoform 4 [UniParc]. Checksum: 408A16130B3F252C	FASTA	176	20,586
	10 20 30 40 50 60 MCLELFHSSN VIDGLKLNAF AAVFTVLSGL LGMVAHMMYT QVFQVTVSLG PEDWRPHSWD 70 80 90 100 110 120 YGWSFCLAWG SFTCCMAASV TTLNSYTKTV IEFRHKRKVF EQGYREEPTF IDPEAIKYFR 130 140 150 160 170 ERMEKRDGSE EDFHLDCRHE RYPARHQPHM ADSWPRSSAQ EAPELNRQCW VLGHWV

References

[1]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[2]	Li H., Li S., Zhou G., Shen C., Li M., Xiao W., Lin L., Yang S. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]	"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q." Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D. Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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 4). Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00152159. IPI00432726. IPI00892819. IPI00894216.
RefSeq	NP_001103233.1. NM_001109763.1. NP_653276.1. NM_144675.2.
UniGene	Hs.91910.
3D structure databases
ProteinModelPortal	Q6UXU4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000394954.
PTM databases
PhosphoSite	Q6UXU4.
Polymorphism databases
DMDM	187471161.
Proteomic databases
PaxDb	Q6UXU4.
PRIDE	Q6UXU4.
Protocols and materials databases
DNASU	146395.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000380897; ENSP00000370282; ENSG00000169181. ENST00000380898; ENSP00000370283; ENSG00000169181. ENST00000395724; ENSP00000379074; ENSG00000169181. ENST00000447459; ENSP00000394954; ENSG00000169181. ENST00000569166; ENSP00000454880; ENSG00000169181.
GeneID	146395.
KEGG	hsa:146395.
UCSC	uc002doy.2. human. uc010bxz.1. human. uc010bya.1. human.
Organism-specific databases
CTD	146395.
GeneCards	GC16M027798.
H-InvDB	HIX0012917.
HGNC	HGNC:28283. GSG1L.
HPA	HPA014479.
neXtProt	NX_Q6UXU4.
PharmGKB	PA145148734.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47621.
HOGENOM	HOG000112826.
HOVERGEN	HBG069545.
OMA	YSCEEEL.
Gene expression databases
Bgee	Q6UXU4.
CleanEx	HS_GSG1L.
Genevestigator	Q6UXU4.
Family and domain databases
InterPro	IPR012478. GSG-1. [Graphical view]
Pfam	PF07803. GSG-1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GSG1L. human.
GenomeRNAi	146395.
NextBio	85346.

Entry information

Entry name

GSG1L_HUMAN

Accession

Primary (citable) accession number: Q6UXU4
Secondary accession number(s): Q7Z6F8, Q8TB81

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	April 29, 2008
Last modified:	April 3, 2013
This is version 63 of the entry and version 2 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.