Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Gene Synonyms
BRIT1, FLJ12847, MCT
Location
Chromosome 8: 6,264,113-6,501,144 forward strand.
GRCh37:CM000670.1
About this gene
This gene has 7 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000344683.5 | MCPH1-001 | 3158 | 835aa | ENSP00000342924.5 | Protein coding | CCDS43689 | Q6RA50 Q6RAB6 Q6RAP8 Q6RAZ4 Q6RB60 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q6W7E5 | NM_024596.3 | Ensembl Canonical, GENCODE Basic, |
| ENST00000519480.1 | MCPH1-002 | 2917 | 610aa | ENSP00000430962.1 | Protein coding | CCDS55190 | Q6RAZ4 Q6RB60 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q8NEM0 | NM_001172574.1 | GENCODE Basic, |
| ENST00000522905.1 | MCPH1-003 | 2049 | 562aa | ENSP00000430768.1 | Protein coding | CCDS55191 | Q6RAZ4 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q8NEM0 | NM_001172575.1 | GENCODE Basic, |
| ENST00000521175.1 | MCPH1-005 | 777 | No protein | - | Processed transcript | - | - | - | |
| ENST00000521129.1 | MCPH1-004 | 540 | No protein | - | Processed transcript | - | - | - | |
| ENST00000519221.1 | MCPH1-007 | 539 | No protein | - | Processed transcript | - | - | - | |
| ENST00000522020.1 | MCPH1-006 | 470 | No protein | - | Processed transcript | - | - | - |
