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Protein

GAS2-like protein 1

Gene

GAS2L1

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

Functioni

Seems to be involved in the cross-linking of microtubules and microfilaments.1 Publication

GO - Molecular functioni

  • cytoskeletal adaptor activity Source: UniProtKB
  • microtubule binding Source: UniProtKB
  • thyroid hormone receptor binding Source: UniProtKB

GO - Biological processi

  • cell cycle arrest Source: UniProtKB
  • cellular response to starvation Source: UniProtKB
  • cellular response to thyroid hormone stimulus Source: UniProtKB
  • microtubule bundle formation Source: UniProtKB
  • negative regulation of cell growth Source: UniProtKB
  • negative regulation of erythrocyte differentiation Source: UniProtKB
  • negative regulation of gene expression Source: UniProtKB
  • negative regulation of microtubule depolymerization Source: UniProtKB
  • regulation of cell cycle Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
GAS2-like protein 1
Alternative name(s):
GAS2-related protein on chromosome 22
Growth arrest-specific protein 2-like 1
Gene namesi
Name:GAS2L1
Synonyms:GAR22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000185340.15.
HGNCiHGNC:16955. GAS2L1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi10634.
OpenTargetsiENSG00000185340.
PharmGKBiPA38195.

Polymorphism and mutation databases

BioMutaiGAS2L1.
DMDMi73915341.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001904422 – 681GAS2-like protein 1Add BLAST680

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei193PhosphothreonineCombined sources1
Modified residuei306PhosphoserineCombined sources1
Modified residuei316PhosphoserineCombined sources1
Modified residuei334PhosphothreonineCombined sources1
Modified residuei352PhosphoserineCombined sources1
Modified residuei355PhosphoserineCombined sources1
Modified residuei391PhosphothreonineCombined sources1
Modified residuei394PhosphoserineCombined sources1
Modified residuei436PhosphoserineCombined sources1
Modified residuei438PhosphoserineCombined sources1
Modified residuei479PhosphoserineCombined sources1
Modified residuei486PhosphoserineCombined sources1
Modified residuei487Omega-N-methylarginineBy similarity1
Modified residuei490PhosphoserineBy similarity1
Modified residuei492PhosphoserineCombined sources1
Modified residuei498PhosphothreonineCombined sources1
Modified residuei504Omega-N-methylarginineBy similarity1
Modified residuei633Omega-N-methylarginineBy similarity1
Modified residuei657PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ99501.
MaxQBiQ99501.
PaxDbiQ99501.
PeptideAtlasiQ99501.
PRIDEiQ99501.

PTM databases

iPTMnetiQ99501.
PhosphoSitePlusiQ99501.

Expressioni

Gene expression databases

BgeeiENSG00000185340.
CleanExiHS_GAS2L1.
ExpressionAtlasiQ99501. baseline and differential.
GenevisibleiQ99501. HS.

Organism-specific databases

HPAiHPA019858.

Interactioni

GO - Molecular functioni

  • cytoskeletal adaptor activity Source: UniProtKB
  • microtubule binding Source: UniProtKB
  • thyroid hormone receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115878. 35 interactors.
IntActiQ99501. 14 interactors.
STRINGi9606.ENSP00000344012.

Structurei

3D structure databases

ProteinModelPortaliQ99501.
SMRiQ99501.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 148Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST122
Domaini203 – 275GARPROSITE-ProRule annotationAdd BLAST73

Sequence similaritiesi

Belongs to the GAS2 family.Curated

Phylogenomic databases

eggNOGiKOG0516. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00390000002205.
HOGENOMiHOG000007404.
HOVERGENiHBG079404.
InParanoidiQ99501.
PhylomeDBiQ99501.
TreeFamiTF323754.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
3.30.920.20. 1 hit.
InterProiView protein in InterPro
IPR036872. Calponin-like_dom_sf.
IPR001715. CH-domain.
IPR003108. GAR_dom.
IPR036534. GAR_dom_sf.
IPR029931. GAS2L1.
PANTHERiPTHR44878. PTHR44878. 1 hit.
PfamiView protein in Pfam
PF00307. CH. 1 hit.
PF02187. GAS2. 1 hit.
SMARTiView protein in SMART
SM00033. CH. 1 hit.
SM00243. GAS2. 1 hit.
SUPFAMiSSF143575. SSF143575. 1 hit.
SSF47576. SSF47576. 1 hit.
PROSITEiView protein in PROSITE
PS50021. CH. 1 hit.
PS51460. GAR. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q99501-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MADPVAGIAG SAAKSVRPFR SSEAYVEAMK EDLAEWLNAL YGLGLPGGGD
60 70 80 90 100
GFLTGLATGT TLCQHANAVT EAARALAAAR PARGVAFQAH SVVPGSFMAR
110 120 130 140 150
DNVATFIGWC RVELGVPEVL MFETEDLVLR KNEKSVVLCL LEVARRGARL
160 170 180 190 200
GLLAPRLVQF EQEIERELRA APPAPNAPAA GEDTTETAPA PGTPARGPRM
210 220 230 240 250
TPSDLRNLDE LVREILGRCT CPDQFPMIKV SEGKYRVGDS SLLIFVRVLR
260 270 280 290 300
SHVMVRVGGG WDTLEHYLDK HDPCRCSSTA HRPPQPRVCT FSPQRVSPTT
310 320 330 340 350
SPRPASPVPG SERRGSRPEM TPVSLRSTKE GPETPPRPRD QLPPHPRSRR
360 370 380 390 400
YSGDSDSSAS SAQSGPLGTR SDDTGTGPRR ERPSRRLTTG TPASPRRPPA
410 420 430 440 450
LRSQSRDRLD RGRPRGAPGG RGAQLSVPSP ARRARSQSRE EQAVLLVRRD
460 470 480 490 500
RDGQHSWVPR GRGSGGSGRS TPQTPRARSP AAPRLSRVSS PSPELGTTPA
510 520 530 540 550
SIFRTPLQLD PQQEQQLFRR LEEEFLANAR ALEAVASVTP TGPVPDPARA
560 570 580 590 600
PDPPAPDSAY CSSSSSSSSL SVLGGKCGQP GDSGRTANGL PGPRSQALSS
610 620 630 640 650
SSDEGSPCPG MGGPLDAPGS PLACTEPSRT WARGRMDTQP DRKPSRIPTP
660 670 680
RGPRRPSGPA ELGTWHALHS VTPRAEPDSW M
Length:681
Mass (Da):72,717
Last modified:August 30, 2005 - v2
Checksum:iA23A10748535D900
GO
Isoform 2 (identifier: Q99501-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

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

Show »
Length:337
Mass (Da):36,318
Checksum:i38CDE4CBA2BF5BAA
GO
Isoform 3 (identifier: Q99501-3) [UniParc]FASTAAdd to basket

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.
Show »
Length:329
Mass (Da):34,593
Checksum:i03E1DE1D5D38EE2C
GO
Isoform 4 (identifier: Q99501-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-563: Missing.

Show »
Length:454
Mass (Da):48,273
Checksum:iBB85BE498EEC3F3C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti544V → A in BAD97322 (Ref. 2) Curated1
Sequence conflicti544V → A in AAH11047 (PubMed:15489334).Curated1
Sequence conflicti593P → S in BAD97322 (Ref. 2) Curated1
Sequence conflicti666H → R in BAD97322 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059974490S → G. Corresponds to variant dbSNP:rs34124440Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015494280 – 329AHRPP…LRSTK → GPGISCPPIPAPAATPGTVT PQPPPPRAAPLVPAVMTQAL APGGSDPAGG in isoform 3. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_015495330 – 681Missing in isoform 3. 1 PublicationAdd BLAST352
Alternative sequenceiVSP_055754337 – 563Missing in isoform 4. CuratedAdd BLAST227
Alternative sequenceiVSP_015493338 – 681Missing in isoform 2. 1 PublicationAdd BLAST344

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y07848 Genomic DNA. Translation: CAA69176.1.
Y07846 mRNA. Translation: CAA69174.1.
AK223602 mRNA. Translation: BAD97322.1.
AC002059 Genomic DNA. No translation available.
BC001782 mRNA. Translation: AAH01782.1.
BC007624 mRNA. Translation: AAH07624.1.
BC011047 mRNA. Translation: AAH11047.1.
CCDSiCCDS63438.1. [Q99501-4]
CCDS74840.1. [Q99501-1]
RefSeqiNP_001265659.1. NM_001278730.1. [Q99501-4]
NP_006469.2. NM_006478.4.
NP_689422.1. NM_152236.2.
XP_011528126.1. XM_011529824.1.
XP_011528127.1. XM_011529825.1.
XP_016884022.1. XM_017028533.1.
UniGeneiHs.322852.

Genome annotation databases

EnsembliENST00000406549; ENSP00000383995; ENSG00000185340. [Q99501-4]
ENST00000610653; ENSP00000484130; ENSG00000185340. [Q99501-2]
GeneIDi10634.
KEGGihsa:10634.
UCSCiuc010gvm.3. human. [Q99501-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGA2L1_HUMAN
AccessioniPrimary (citable) accession number: Q99501
Secondary accession number(s): B5MCR7
, Q53EN7, Q92640, Q9BUY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: August 30, 2005
Last modified: October 25, 2017
This is version 143 of the entry and version 2 of the sequence. See 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families