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ATL3 atlastin GTPase 3 [ Homo sapiens (human) ]

Gene ID: 25923, updated on 5-Apr-2020

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
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

Genomic context

See ATL3 in Genome Data Viewer
Location:
11q13.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (63624082..63671974, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (63391554..63439533, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.2897 Neighboring gene uncharacterized LOC105369335 Neighboring gene phospholipase A and acyltransferase 3 Neighboring gene uncharacterized LOC107984336 Neighboring gene inner mitochondrial membrane peptidase subunit 1 pseudogene 1 Neighboring gene reticulon 3 Neighboring gene chromosome 11 open reading frame 95

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

Homology

Clone Names

  • DKFZp564J0863

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homooligomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum tubular network IDA
Inferred from Direct Assay
more info
PubMed 
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 
membrane HDA PubMed 

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_033985.1 RefSeqGene

    Range
    5001..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/Swiss-Prot
    Q6DD88
    UniProtKB/TrEMBL
    B4DXC4, F5H6I7
    Related
    ENSP00000437593.1, ENST00000538786.1
    Conserved Domains (1) summary
    cl21455
    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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    63624082..63671974 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718493.1XP_006718556.1  atlastin-3 isoform X1

    Conserved Domains (1) summary
    cl21455
    Location:37286
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_024448428.1XP_024304196.1  atlastin-3 isoform X2

    Conserved Domains (1) summary
    cl21455
    Location:1109
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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