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    ATL1 atlastin GTPase 1 [ Homo sapiens (human) ]

    Gene ID: 51062, updated on 22-Sep-2018

    Summary

    Official Symbol
    ATL1provided by HGNC
    Official Full Name
    atlastin GTPase 1provided by HGNC
    Primary source
    HGNC:HGNC:11231
    See related
    Ensembl:ENSG00000198513 MIM:606439; Vega:OTTHUMG00000140297
    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
    FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1
    Summary
    The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 34.8), endometrium (RPKM 5.1) and 15 other tissues See more
    Orthologs

    Genomic context

    See ATL1 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (50533082..50633068)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50999800..51099786)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase like 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 452, pseudogene Neighboring gene salvador family WW domain containing protein 1 Neighboring gene ZFP64 zinc finger protein pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary sensory neuropathy type 1D
    MedGen: C3150972 OMIM: 613708 GeneReviews: Not available
    Compare labs
    Spastic paraplegia 3
    MedGen: C2931355 OMIM: 182600 GeneReviews: Spastic Paraplegia 3A
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    NHGRI GWA Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    NHGRI GWA Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum tubular network membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Golgi cis cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum tubular network ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum tubular network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    atlastin-1
    Names
    GBP-3
    GTP-binding protein 3
    brain-specific GTP-binding protein
    guanine nucleotide-binding protein 3
    guanylate-binding protein 3
    hGBP3
    spastic paraplegia 3 protein A
    NP_001121185.1
    NP_056999.2
    NP_853629.2

    NCBI Reference Sequences (RefSeq)

    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_009028.1 RefSeqGene

      Range
      5001..104987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_360

    mRNA and Protein(s)

    1. NM_001127713.1NP_001121185.1  atlastin-1 isoform b

      See identical proteins and their annotated locations for NP_001121185.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and differs in the 5' UTR compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AK223436, AK290185, AL833591, DA397302, R61338
      Consensus CDS
      CCDS32077.1
      UniProtKB/Swiss-Prot
      Q8WXF7
      UniProtKB/TrEMBL
      A0A0S2Z5A2, Q53F53
      Related
      ENSP00000413675.2, OTTHUMP00000244698, ENST00000441560.6, OTTHUMT00000410925
      Conserved Domains (1) summary
      pfam02263
      Location:43314
      GBP; Guanylate-binding protein, N-terminal domain
    2. NM_015915.4NP_056999.2  atlastin-1 isoform a

      See identical proteins and their annotated locations for NP_056999.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK223436, AK290185, DA088230, R61338
      Consensus CDS
      CCDS9700.1
      UniProtKB/Swiss-Prot
      Q8WXF7
      UniProtKB/TrEMBL
      A0A0S2Z5B0, Q53F53
      Related
      ENSP00000351155.6, OTTHUMP00000178981, ENST00000358385.10, OTTHUMT00000276884
      Conserved Domains (1) summary
      pfam02263
      Location:43314
      GBP; Guanylate-binding protein, N-terminal domain
    3. NM_181598.3NP_853629.2  atlastin-1 isoform b

      See identical proteins and their annotated locations for NP_853629.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.
      Source sequence(s)
      AK223436, AK290185, AL833591, DA088230, R61338
      Consensus CDS
      CCDS32077.1
      UniProtKB/Swiss-Prot
      Q8WXF7
      UniProtKB/TrEMBL
      A0A0S2Z5A2, Q53F53
      Conserved Domains (1) summary
      pfam02263
      Location:43314
      GBP; Guanylate-binding protein, N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      50533082..50633068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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