Description
atlastin GTPase 1 [Source:HGNC Symbol;Acc:11231]
Gene Synonyms
AD-FSP, ATL1-beta, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1
Location
Chromosome 14: 50,999,227-51,099,786 forward strand.
GRCh37:CM000676.1
About this gene
This gene has 12 transcripts (splice variants), 3 paralogues and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000441560.2 | ATL1-002 | 2853 | 553aa | ENSP00000413675.2 | Protein coding | CCDS32077 | G3V321 G3V334 G3V4Y8 G3V5T4 Q8WXF7 | NM_001127713.1 | GENCODE basic, |
ENST00000358385.6 | ATL1-001 | 2647 | 558aa | ENSP00000351155.6 | Protein coding | CCDS9700 | G3V321 G3V334 G3V4Y8 G3V5T4 Q8WXF7 | NM_015915.4 | GENCODE basic, |
ENST00000357032.3 | ATL1-202 | 2643 | 558aa | ENSP00000349534.3 | Protein coding | F8WD04 G3V321 G3V334 G3V4Y8 G3V5T4 | - | GENCODE basic, | |
ENST00000354525.4 | ATL1-201 | 2628 | 553aa | ENSP00000346522.4 | Protein coding | CCDS32077 | G3V321 G3V334 G3V4Y8 G3V5T4 Q8WXF7 | NM_181598.3 | GENCODE basic, |
ENST00000555960.1 | ATL1-005 | 620 | 99aa | ENSP00000452506.1 | Protein coding | G3V321 G3V5T4 | - | CDS 3' incomplete, | |
ENST00000557735.1 | ATL1-012 | 570 | 47aa | ENSP00000451015.1 | Protein coding | G3V334 | - | CDS 3' incomplete, | |
ENST00000554886.1 | ATL1-008 | 545 | 75aa | ENSP00000452074.1 | Protein coding | G3V4Y8 | - | CDS 3' incomplete, | |
ENST00000553509.1 | ATL1-006 | 527 | 29aa | ENSP00000450989.1 | Protein coding | G3V321 | - | CDS 3' incomplete, | |
ENST00000556067.1 | ATL1-011 | 550 | 105aa | ENSP00000451100.1 | Nonsense mediated decay | H0YJA7 | - | CDS 5' incomplete, | |
ENST00000555266.1 | ATL1-009 | 383 | 52aa | ENSP00000450897.1 | Nonsense mediated decay | H0YJ65 | - | CDS 5' incomplete, | |
ENST00000556478.2 | ATL1-003 | 644 | No protein | - | Processed transcript | - | - | - | |
ENST00000553746.1 | ATL1-007 | 370 | No protein | - | Retained intron | - | - | - |