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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
    mouse all
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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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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