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GAS2L1 growth arrest specific 2 like 1 [ Homo sapiens (human) ]

Gene ID: 10634, updated on 2-Nov-2024

Summary

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Official Symbol
GAS2L1provided by HGNC
Official Full Name
growth arrest specific 2 like 1provided by HGNC
Primary source
HGNC:HGNC:16955
See related
Ensembl:ENSG00000185340 MIM:602128; AllianceGenome:HGNC:16955
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAR22
Summary
This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end of mature centrioles and links centrosomes to both microtubules and actin. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, May 2018]
Expression
Broad expression in testis (RPKM 11.4), fat (RPKM 8.4) and 25 other tissues See more
Orthologs
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Genomic context

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See GAS2L1 in Genome Data Viewer
Location:
22q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29306650..29312787)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29769795..29776198)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29702640..29708776)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29655585-29656439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29656440-29657293 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29663849-29664720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18813 Neighboring gene rhomboid domain containing 3 Neighboring gene EWS RNA binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29698939-29699439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29701647-29702392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29702393-29703136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710073-29710877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710878-29711682 Neighboring gene RAS like family 10 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29726349-29727305 Neighboring gene adaptor related protein complex 1 subunit beta 1 Neighboring gene small nucleolar RNA, C/D box 125

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GAS2L1 Is a Centriole-Associated Protein Required for Centrosome Dynamics and Disjunction. Au FK, et al. Dev Cell, 2017 Jan 9. PMID 28017616
  2. Nek2-mediated GAS2L1 phosphorylation and centrosome-linker disassembly induce centrosome disjunction. Au FKC, et al. J Cell Biol, 2020 May 4. PMID 32289147, Free PMC Article
  3. Gas2, a growth arrest-specific protein, is a component of the microfilament network system. Brancolini C, et al. J Cell Biol, 1992 Jun. PMID 1607387, Free PMC Article
  4. An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia. Saito A, et al. Psychiatry Res, 2011 Jan 30. PMID 20537721
  5. Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region. Zucman-Rossi J, et al. Genomics, 1996 Dec 15. PMID 8975699

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nek2-mediated GAS2L1 phosphorylation and centrosome-linker disassembly induce centrosome disjunction.
    Title: Nek2-mediated GAS2L1 phosphorylation and centrosome-linker disassembly induce centrosome disjunction.
  2. This work reveals a GAS2L1-mediated centriole-tethering mechanism of microtubules and actin, which provide the forces required for centrosome dynamics and separation.
    Title: GAS2L1 Is a Centriole-Associated Protein Required for Centrosome Dynamics and Disjunction.
  3. GAS2L1 and GAS2L2 are differentially involved in mediating the crosstalk between F-actin and microtubules.
    Title: GAS2-like proteins mediate communication between microtubules and actin through interactions with end-binding proteins.
  4. There was no significant difference in the frequency six marker haplotype in the GAS2L1 gene between the cases of schizophreina and controls.
    Title: An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia.
  6. T3-induced genes identified basic transcription element binding protein 1/Kruppel-like factor 9 (BTEB1/KLF9) and GAR22 as TR target genes
    Title: GAR22: a novel target gene of thyroid hormone receptor causes growth inhibition in human erythroid cells.
  7. The beta isoforms of hGAR17 and hGAR22 appear to be able to crosslink microtubules and microfilaments
    Title: Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies GAS2L1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC17243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cytoskeletal anchor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin crosslink formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to starvation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule bundle formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of microtubule depolymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization to microtubule plus-end IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of microtubule polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of microtubule polymerization or depolymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with actin filament IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with microtubule plus-end IMP
Inferred from Mutant Phenotype
more info
 PubMed 
colocalizes_with stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with stress fiber IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
GAS2-like protein 1
Names
GAS2-related protein on chromosome 22
epididymis secretory sperm binding protein
growth arrest-specific protein 2-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032959.1 RefSeqGene

    Range
    4644..10781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278730.2 → NP_001265659.1  GAS2-like protein 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the terminal exon compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC002059, AK225484
    Consensus CDS
    CCDS63438.1
    UniProtKB/Swiss-Prot
    Q99501
    Related
    ENSP00000383995.3, ENST00000406549.7
    Conserved Domains (2) summary
    smart00243
    Location:206 → 278
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd00014
    Location:29 → 148
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

  2. NM_001362985.3 → NP_001349914.1  GAS2-like protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 5 encode isoform a.
    Source sequence(s)
    AC002059, KF459717
    Consensus CDS
    CCDS74840.1
    UniProtKB/Swiss-Prot
    B5MCR7, Q53EN7, Q92640, Q99501, Q9BUY9
    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8
    Related
    ENSP00000478908.1, ENST00000616432.5
    Conserved Domains (3) summary
    PHA03247
    Location:283 → 662
    PHA03247; large tegument protein UL36; Provisional
    pfam02187
    Location:208 → 276
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21268
    Location:18 → 152
    CH_GAS2L1_2; calponin homology (CH) domain found in GAS2-like protein 1 (GAS2L1), GAS2L2, and similar proteins

  3. NM_001395196.1 → NP_001382125.1  GAS2-like protein 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC002059, KF459717
    Consensus CDS
    CCDS74840.1
    UniProtKB/Swiss-Prot
    B5MCR7, Q53EN7, Q92640, Q99501, Q9BUY9
    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8
    Related
    ENSP00000481012.1, ENST00000618518.3
    Conserved Domains (3) summary
    PHA03247
    Location:283 → 662
    PHA03247; large tegument protein UL36; Provisional
    pfam02187
    Location:208 → 276
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21268
    Location:18 → 152
    CH_GAS2L1_2; calponin homology (CH) domain found in GAS2-like protein 1 (GAS2L1), GAS2L2, and similar proteins

  4. NM_001395197.1 → NP_001382126.1  GAS2-like protein 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC002059, KF459717
    Consensus CDS
    CCDS74840.1
    UniProtKB/Swiss-Prot
    B5MCR7, Q53EN7, Q92640, Q99501, Q9BUY9
    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8
    Conserved Domains (3) summary
    PHA03247
    Location:283 → 662
    PHA03247; large tegument protein UL36; Provisional
    pfam02187
    Location:208 → 276
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21268
    Location:18 → 152
    CH_GAS2L1_2; calponin homology (CH) domain found in GAS2-like protein 1 (GAS2L1), GAS2L2, and similar proteins

  5. NM_006478.5 → NP_006469.2  GAS2-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_006469.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (a). Variants 1, 2 and 5 encode isoform a.
    Source sequence(s)
    AC002059, BC011047
    Consensus CDS
    CCDS74840.1
    UniProtKB/Swiss-Prot
    B5MCR7, Q53EN7, Q92640, Q99501, Q9BUY9
    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8
    Related
    ENSP00000478343.1, ENST00000621062.4
    Conserved Domains (3) summary
    PHA03247
    Location:283 → 662
    PHA03247; large tegument protein UL36; Provisional
    pfam02187
    Location:208 → 276
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21268
    Location:18 → 152
    CH_GAS2L1_2; calponin homology (CH) domain found in GAS2-like protein 1 (GAS2L1), GAS2L2, and similar proteins

  6. NM_152236.3 → NP_689422.1  GAS2-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_689422.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 5 encode isoform a.
    Source sequence(s)
    AC002059, AK093386
    Consensus CDS
    CCDS74840.1
    UniProtKB/Swiss-Prot
    B5MCR7, Q53EN7, Q92640, Q99501, Q9BUY9
    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8
    Related
    ENSP00000479551.1, ENST00000611648.2
    Conserved Domains (3) summary
    PHA03247
    Location:283 → 662
    PHA03247; large tegument protein UL36; Provisional
    pfam02187
    Location:208 → 276
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21268
    Location:18 → 152
    CH_GAS2L1_2; calponin homology (CH) domain found in GAS2-like protein 1 (GAS2L1), GAS2L2, and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    29306650..29312787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529825.1 → XP_011528127.1  GAS2-like protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011528127.1

    UniProtKB/Swiss-Prot
    B5MCR7, Q53EN7, Q92640, Q99501, Q9BUY9
    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8
    Conserved Domains (3) summary
    PHA03247
    Location:283 → 662
    PHA03247; large tegument protein UL36; Provisional
    pfam02187
    Location:208 → 276
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21268
    Location:18 → 152
    CH_GAS2L1_2; calponin homology (CH) domain found in GAS2-like protein 1 (GAS2L1), GAS2L2, and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    29769795..29776198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324984.1 → XP_054180959.1  GAS2-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8

  2. XM_054324983.1 → XP_054180958.1  GAS2-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A024R1C7, A0A5E8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152237.1: Suppressed sequence

    Description
    NM_152237.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99501.2 GenPept UniProtKB/Swiss-Prot:Q99501

Gene LinkOut

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