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    ATL3 atlastin GTPase 3 [ Homo sapiens (human) ]

    Gene ID: 25923, updated on 1-Mar-2024

    Summary

    Official Symbol
    ATL3provided by HGNC
    Official Full Name
    atlastin GTPase 3provided by HGNC
    Primary source
    HGNC:HGNC:24526
    See related
    Ensembl:ENSG00000184743 MIM:609369; AllianceGenome:HGNC:24526
    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
    HSN1F
    Summary
    This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
    Expression
    Ubiquitous expression in fat (RPKM 13.6), thyroid (RPKM 12.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATL3 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (63624087..63671974, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (63613427..63661313, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63391559..63439446, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3435 Neighboring gene CRISPRi-validated cis-regulatory element chr11.2897 Neighboring gene phospholipase A and acyltransferase 2 Neighboring gene uncharacterized LOC105369335 Neighboring gene phospholipase A and acyltransferase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:63368875-63369376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63372619-63373384 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:63378198-63378707 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:63379461-63379961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3437 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:63398741-63399940 Neighboring gene inner mitochondrial membrane peptidase subunit 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:63438213-63438714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:63438715-63439214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3441 Neighboring gene reticulon 3 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:63529087-63529846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3443 Neighboring gene zinc finger translocation associated

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp564J0863

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    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_033985.1 RefSeqGene

      Range
      5599..52888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290048.2NP_001276977.1  atlastin-3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK301910, AP000753, BC077727, DC394729
      Consensus CDS
      CCDS73309.1
      UniProtKB/TrEMBL
      B4DXC4, F5H6I7
      Related
      ENSP00000437593.1, ENST00000538786.1
      Conserved Domains (1) summary
      cl38936
      Location:19287
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_015459.5NP_056274.3  atlastin-3 isoform 1

      See identical proteins and their annotated locations for NP_056274.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AP000753, BC077727
      Consensus CDS
      CCDS41663.1
      UniProtKB/Swiss-Prot
      Q6DD88, Q8N7W5, Q9H8Q5, Q9UFL1
      UniProtKB/TrEMBL
      B4DXC4
      Related
      ENSP00000381844.3, ENST00000398868.8
      Conserved Domains (1) summary
      cl21455
      Location:37305
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      63624087..63671974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426725.1XP_047282681.1  atlastin-3 isoform X2

      UniProtKB/TrEMBL
      B4DXC4
    2. XM_006718493.2XP_006718556.1  atlastin-3 isoform X1

      UniProtKB/TrEMBL
      B4DXC4
      Conserved Domains (1) summary
      cl21455
      Location:37286
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      63613427..63661313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368354.1XP_054224329.1  atlastin-3 isoform X2

      UniProtKB/TrEMBL
      B4DXC4
    2. XM_054368353.1XP_054224328.1  atlastin-3 isoform X1

      UniProtKB/TrEMBL
      B4DXC4