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Q99501 (GA2L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length681 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Seems to be involved in the cross-linking of microtubules and microfilaments. Ref.4

Subcellular location

Cytoplasmcytoskeleton Probable.

Sequence similarities

Belongs to the GAS2 family.

Contains 1 CH (calponin-homology) domain.

Contains 1 GAR domain.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell 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_componentcytoplasm

Inferred from direct assay Ref.4. Source: UniProtKB

microtubule

Inferred from electronic annotation. Source: Ensembl

stress fiber

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncytoskeletal 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.10
Chain2 – 681680GAS2-like protein 1
PRO_0000190442

Regions

Domain27 – 147121CH
Domain203 – 27573GAR

Amino acid modifications

Modified residue21N-acetylalanine Ref.10
Modified residue1931Phosphothreonine Ref.7
Modified residue3061Phosphoserine Ref.6 Ref.7
Modified residue3521Phosphoserine Ref.8
Modified residue3911Phosphothreonine Ref.7
Modified residue3941Phosphoserine Ref.7
Modified residue4921Phosphoserine Ref.7 Ref.9
Modified residue4981Phosphothreonine Ref.7

Natural variations

Alternative sequence280 – 32950AHRPP…LRSTK → GPGISCPPIPAPAATPGTVT PQPPPPRAAPLVPAVMTQAL APGGSDPAGG in isoform 3.
VSP_015494
Alternative sequence330 – 681352Missing in isoform 3.
VSP_015495
Alternative sequence338 – 681344Missing in isoform 2.
VSP_015493
Natural variant4901S → G.
Corresponds to variant rs34124440 [ dbSNP | Ensembl ].
VAR_059974

Experimental info

Sequence conflict5441V → A in BAD97322. Ref.2
Sequence conflict5441V → A in AAH11047. Ref.3
Sequence conflict5931P → S in BAD97322. Ref.2
Sequence conflict6661H → R in BAD97322. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Beta) [UniParc].

Last modified August 30, 2005. Version 2.
Checksum: A23A10748535D900

FASTA68172,717
        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 

« Hide

Isoform 2 (Alpha) [UniParc].

Checksum: 38CDE4CBA2BF5BAA
Show »

FASTA33736,318
Isoform 3 [UniParc].

Checksum: 03E1DE1D5D38EE2C
Show »

FASTA32934,593

References

« Hide '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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

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.
RefSeqNP_006469.2. NM_006478.4.
NP_689422.1. NM_152236.2.
UniGeneHs.322852.

3D structure databases

ProteinModelPortalQ99501.
SMRQ99501. Positions 20-152, 219-275.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115878. 2 interactions.
STRING9606.ENSP00000344012.

PTM databases

PhosphoSiteQ99501.

Polymorphism databases

DMDM73915341.

Proteomic databases

PaxDbQ99501.
PRIDEQ99501.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341313; ENSP00000344012; ENSG00000185340. [Q99501-2]
ENST00000360113; ENSP00000353229; ENSG00000185340. [Q99501-3]
GeneID10634.
KEGGhsa:10634.
UCSCuc003afb.1. human. [Q99501-2]

Organism-specific databases

CTD10634.
GeneCardsGC22P029702.
HGNCHGNC:16955. GAS2L1.
MIM602128. gene.
neXtProtNX_Q99501.
PharmGKBPA38195.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322939.
HOGENOMHOG000007404.
HOVERGENHBG079404.
InParanoidQ99501.
OrthoDBEOG7VTDR1.
PhylomeDBQ99501.
TreeFamTF323754.

Gene expression databases

ArrayExpressQ99501.
BgeeQ99501.
CleanExHS_GAS2L1.
GenevestigatorQ99501.

Family and domain databases

Gene3D1.10.418.10. 1 hit.
3.30.920.20. 1 hit.
InterProIPR001715. CH-domain.
IPR003108. GAS2_dom.
[Graphical view]
PfamPF00307. CH. 1 hit.
PF02187. GAS2. 1 hit.
[Graphical view]
SMARTSM00033. CH. 1 hit.
SM00243. GAS2. 1 hit.
[Graphical view]
SUPFAMSSF143575. SSF143575. 1 hit.
SSF47576. SSF47576. 1 hit.
PROSITEPS50021. CH. 1 hit.
PS51460. GAR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGAS2L1.
GenomeRNAi10634.
NextBio40413.
PROQ99501.
SOURCESearch...

Entry information

Entry nameGA2L1_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM