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ATL1 atlastin GTPase 1 [ Homo sapiens (human) ]

Gene ID: 51062, updated on 5-Aug-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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