Description

atlastin GTPase 1 [Source:HGNC Symbol;Acc:HGNC:11231]

Synonyms

AD-FSP, FSP1, SPG3, SPG3A

Location
INSDC coordinates

chromosome:GRCh38:CM000676.2:50532509:50633068:1

About this gene

This gene has 10 transcripts (splice variants), 68 orthologues, 3 paralogues, is a member of 5 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
ATL1-002ENST000004415602853553aaENSP00000413675
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS32077Q8WXF7 NM_001127713
NM_181598
NP_001121185
NP_853629
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
ATL1-001ENST000003583852647558aaENSP00000351155
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9700Q8WXF7 NM_015915
NP_056999
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI3APPRIS candidate principal isoform (earliest CCDS)
Glossary entry for APPRIS
APPRIS website
ATL1-005ENST00000555960620100aaENSP00000452506
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V5T4 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-012ENST0000055773557047aaENSP00000451015
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V334 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-008ENST0000055488654575aaENSP00000452074
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V4Y8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-006ENST0000055350952729aaENSP00000450989
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V321 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-011ENST00000556067550105aaENSP00000451100
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YJA7 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-009ENST0000055526638352aaENSP00000450897
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YJ65 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-003ENST00000556478644No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

ATL1-007ENST00000553746370No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays