Q99501 (GA2L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GAS2-like protein 1

Alternative name(s):
GAS2-related protein on chromosome 22
Growth arrest-specific protein 2-like 1

Gene names

Name:	GAS2L1
Synonyms:	GAR22

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

General annotation (Comments)

Function	Seems to be involved in the cross-linking of microtubules and microfilaments. Ref.4
Subcellular location	Cytoplasm › cytoskeleton Probable.
Sequence similarities	Belongs to the GAS2 family. Contains 1 CH (calponin-homology) domain. Contains 1 GAR domain.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle arrest Inferred from sequence or structural similarity Ref.4. Source: UniProtKB cellular response to starvation Inferred from sequence or structural similarity Ref.4. Source: UniProtKB cellular response to thyroid hormone stimulus Inferred from direct assay PubMed 19375645. Source: UniProtKB microtubule bundle formation Inferred from mutant phenotype Ref.4. Source: UniProtKB negative regulation of cell growth Inferred from direct assay PubMed 19375645. Source: UniProtKB negative regulation of erythrocyte differentiation Inferred from direct assay PubMed 19375645. Source: UniProtKB negative regulation of gene expression Inferred from direct assay PubMed 19375645PubMed 19375645. Source: UniProtKB negative regulation of microtubule depolymerization Inferred from mutant phenotype Ref.4. Source: UniProtKB regulation of cell cycle Inferred from direct assay PubMed 19375645. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay Ref.4. Source: UniProtKB microtubule Inferred from electronic annotation. Source: Compara stress fiber Inferred from electronic annotation. Source: Compara
Molecular_function	cytoskeletal adaptor activity Inferred from direct assay Ref.4. Source: UniProtKB microtubule binding Inferred from direct assay Ref.4. Source: UniProtKB thyroid hormone receptor binding Inferred from direct assay PubMed 19375645. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q99501-1)

Also known as: Beta;

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: Q99501-2)

Also known as: Alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     338-681: Missing.

Isoform 3 (identifier: Q99501-3)

The sequence of this isoform differs from the canonical sequence as follows:
     280-329: AHRPPQPRVC...MTPVSLRSTK → GPGISCPPIP...APGGSDPAGG
     330-681: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 681	681	GAS2-like protein 1		PRO_0000190442
Regions
	Domain	27 – 147	121	CH
	Domain	203 – 275	73	GAR
Amino acid modifications
	Modified residue	193	1	Phosphothreonine Ref.7
	Modified residue	306	1	Phosphoserine Ref.6 Ref.7
	Modified residue	352	1	Phosphoserine Ref.8
	Modified residue	391	1	Phosphothreonine Ref.7
	Modified residue	394	1	Phosphoserine Ref.7
	Modified residue	492	1	Phosphoserine Ref.7 Ref.9
	Modified residue	498	1	Phosphothreonine Ref.7
Natural variations
	Alternative sequence	280 – 329	50	AHRPP…LRSTK → GPGISCPPIPAPAATPGTVT PQPPPPRAAPLVPAVMTQAL APGGSDPAGG in isoform 3.		VSP_015494
	Alternative sequence	330 – 681	352	Missing in isoform 3.		VSP_015495
	Alternative sequence	338 – 681	344	Missing in isoform 2.		VSP_015493
	Natural variant	490	1	S → G. Corresponds to variant rs34124440 [ dbSNP | Ensembl ].		VAR_059974
Experimental info
	Sequence conflict	544	1	V → A in BAD97322. Ref.2
	Sequence conflict	544	1	V → A in AAH11047. Ref.3
	Sequence conflict	593	1	P → S in BAD97322. Ref.2
	Sequence conflict	666	1	H → R in BAD97322. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Beta) [UniParc]. Last modified August 30, 2005. Version 2. Checksum: A23A10748535D900	FASTA	681	72,717
	10 20 30 40 50 60 MADPVAGIAG SAAKSVRPFR SSEAYVEAMK EDLAEWLNAL YGLGLPGGGD GFLTGLATGT 70 80 90 100 110 120 TLCQHANAVT EAARALAAAR PARGVAFQAH SVVPGSFMAR DNVATFIGWC RVELGVPEVL 130 140 150 160 170 180 MFETEDLVLR KNEKSVVLCL LEVARRGARL GLLAPRLVQF EQEIERELRA APPAPNAPAA 190 200 210 220 230 240 GEDTTETAPA PGTPARGPRM TPSDLRNLDE LVREILGRCT CPDQFPMIKV SEGKYRVGDS 250 260 270 280 290 300 SLLIFVRVLR SHVMVRVGGG WDTLEHYLDK HDPCRCSSTA HRPPQPRVCT FSPQRVSPTT 310 320 330 340 350 360 SPRPASPVPG SERRGSRPEM TPVSLRSTKE GPETPPRPRD QLPPHPRSRR YSGDSDSSAS 370 380 390 400 410 420 SAQSGPLGTR SDDTGTGPRR ERPSRRLTTG TPASPRRPPA LRSQSRDRLD RGRPRGAPGG 430 440 450 460 470 480 RGAQLSVPSP ARRARSQSRE EQAVLLVRRD RDGQHSWVPR GRGSGGSGRS TPQTPRARSP 490 500 510 520 530 540 AAPRLSRVSS PSPELGTTPA SIFRTPLQLD PQQEQQLFRR LEEEFLANAR ALEAVASVTP 550 560 570 580 590 600 TGPVPDPARA PDPPAPDSAY CSSSSSSSSL SVLGGKCGQP GDSGRTANGL PGPRSQALSS 610 620 630 640 650 660 SSDEGSPCPG MGGPLDAPGS PLACTEPSRT WARGRMDTQP DRKPSRIPTP RGPRRPSGPA 670 680 ELGTWHALHS VTPRAEPDSW M
	Isoform 2 (Alpha) [UniParc]. Checksum: 38CDE4CBA2BF5BAA	FASTA	337	36,318
	10 20 30 40 50 60 MADPVAGIAG SAAKSVRPFR SSEAYVEAMK EDLAEWLNAL YGLGLPGGGD GFLTGLATGT 70 80 90 100 110 120 TLCQHANAVT EAARALAAAR PARGVAFQAH SVVPGSFMAR DNVATFIGWC RVELGVPEVL 130 140 150 160 170 180 MFETEDLVLR KNEKSVVLCL LEVARRGARL GLLAPRLVQF EQEIERELRA APPAPNAPAA 190 200 210 220 230 240 GEDTTETAPA PGTPARGPRM TPSDLRNLDE LVREILGRCT CPDQFPMIKV SEGKYRVGDS 250 260 270 280 290 300 SLLIFVRVLR SHVMVRVGGG WDTLEHYLDK HDPCRCSSTA HRPPQPRVCT FSPQRVSPTT 310 320 330 SPRPASPVPG SERRGSRPEM TPVSLRSTKE GPETPPR
	Isoform 3 [UniParc]. Checksum: 03E1DE1D5D38EE2C	FASTA	329	34,593
	10 20 30 40 50 60 MADPVAGIAG SAAKSVRPFR SSEAYVEAMK EDLAEWLNAL YGLGLPGGGD GFLTGLATGT 70 80 90 100 110 120 TLCQHANAVT EAARALAAAR PARGVAFQAH SVVPGSFMAR DNVATFIGWC RVELGVPEVL 130 140 150 160 170 180 MFETEDLVLR KNEKSVVLCL LEVARRGARL GLLAPRLVQF EQEIERELRA APPAPNAPAA 190 200 210 220 230 240 GEDTTETAPA PGTPARGPRM TPSDLRNLDE LVREILGRCT CPDQFPMIKV SEGKYRVGDS 250 260 270 280 290 300 SLLIFVRVLR SHVMVRVGGG WDTLEHYLDK HDPCRCSSTG PGISCPPIPA PAATPGTVTP 310 320 QPPPPRAAPL VPAVMTQALA PGGSDPAGG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region." Zucman-Rossi J., Legoix P., Thomas G. Genomics 38:247-254(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 2 AND 3).
[2]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[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 and Eye.
[4]	"Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules." Goriounov D., Leung C.L., Liem R.K. J. Cell Sci. 116:1045-1058(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, ALTERNATIVE SPLICING (ISOFORMS 1 AND 2).
[5]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[6]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-306, MASS SPECTROMETRY. Tissue: Platelet.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-193; SER-306; THR-391; SER-394; SER-492 AND THR-498, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-352, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-492, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y07848 Genomic DNA. Translation: CAA69176.1. Y07846 mRNA. Translation: CAA69174.1. AK223602 mRNA. Translation: BAD97322.1. BC001782 mRNA. Translation: AAH01782.1. BC007624 mRNA. Translation: AAH07624.1. BC011047 mRNA. Translation: AAH11047.1.
IPI	IPI00015985. IPI00306170. IPI00376939.
RefSeq	NP_006469.2. NM_006478.3. NP_689422.1. NM_152236.1. NP_689423.1. NM_152237.1.
UniGene	Hs.322852.
3D structure databases
ProteinModelPortal	Q99501.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000344012.
PTM databases
PhosphoSite	Q99501.
Polymorphism databases
DMDM	73915341.
Proteomic databases
PaxDb	Q99501.
PRIDE	Q99501.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341313; ENSP00000344012; ENSG00000185340. ENST00000360113; ENSP00000353229; ENSG00000185340.
GeneID	10634.
KEGG	hsa:10634.
UCSC	uc003afb.1. human.
Organism-specific databases
CTD	10634.
GeneCards	GC22P029702.
HGNC	HGNC:16955. GAS2L1.
MIM	602128. gene.
neXtProt	NX_Q99501.
PharmGKB	PA38195.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG322939.
HOGENOM	HOG000007404.
HOVERGEN	HBG079404.
InParanoid	Q99501.
OrthoDB	EOG4C2H9T.
Gene expression databases
ArrayExpress	Q99501.
Bgee	Q99501.
CleanEx	HS_GAS2L1.
Genevestigator	Q99501.
GermOnline	ENSG00000185340. Homo sapiens.
Family and domain databases
Gene3D	1.10.418.10. 1 hit. 3.30.920.20. 1 hit.
InterPro	IPR001715. CH-domain. IPR003108. GAS2_dom. [Graphical view]
Pfam	PF00307. CH. 1 hit. PF02187. GAS2. 1 hit. [Graphical view]
SMART	SM00033. CH. 1 hit. SM00243. GAS2. 1 hit. [Graphical view]
SUPFAM	SSF47576. Calponin-homology. 1 hit. SSF143575. SSF143575. 1 hit.
PROSITE	PS50021. CH. 1 hit. PS51460. GAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10634.
NextBio	40413.
SOURCE	Search...

Entry information

Entry name

GA2L1_HUMAN

Accession

Primary (citable) accession number: Q99501
Secondary accession number(s): Q53EN7, Q92640, Q9BUY9

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	August 30, 2005
Last modified:	May 1, 2013
This is version 106 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.