Description
exostosin-like glycosyltransferase 3 [Source:HGNC Symbol;Acc:3518]
Gene Synonyms
BOTV, EXTL1L, EXTR1, KIAA0519, REGR, RPR, botv
Location
Chromosome 8: 28,457,986-28,613,116 forward strand.
GRCh37:CM000670.1
About this gene
This gene has 14 transcripts (splice variants), 4 paralogues and is associated with 3 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000220562.4 | EXTL3-001 | 6483 | 919aa | ENSP00000220562.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6070 | B4DG91 E5RIV6 O43909 | NM_001440.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000523149.1 | EXTL3-002 | 1779 | 535aa | ENSP00000428691.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DG91 E5RIV6 E7ET85 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000521473.1 | EXTL3-014 | 601 | 201aa | ENSP00000429627.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
ENST00000517738.1 | EXTL3-012 | 529 | 118aa | ENSP00000430652.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RIV6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000521532.1 | EXTL3-009 | 517 | 137aa | ENSP00000431013.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RK02 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000522698.1 | EXTL3-011 | 565 | 75aa | ENSP00000428352.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000519886.1 | EXTL3-010 | 803 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000518223.1 | EXTL3-008 | 562 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000522725.1 | EXTL3-004 | 548 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000520679.1 | EXTL3-013 | 546 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000520940.1 | EXTL3-005 | 542 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000454906.2 | EXTL3-006 | 539 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000519288.1 | EXTL3-003 | 474 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000523271.1 | EXTL3-007 | 8257 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |