Alternative titles; symbolsDIHYDROPYRIMIDINASE-LIKE 1; DPYSL1DIHYDROPYRIMIDINASE-RELATED PROTEIN 1; DRP1HGNC Approved Gene Symbol: CRMP1Cytogenetic location: 4p1...
Alternative titles; symbols
HGNC Approved Gene Symbol: CRMP1
Cytogenetic location: 4p16.2 Genomic coordinates (GRCh38): 4:5,820,763-5,893,085 (from NCBI)
▼ Cloning and Expression
Hamajima et al. (1996) isolated a human cDNA encoding collapsin response mediator protein-1 (CRMP1), which they called dihydropyrimidinase-related protein-1 (DRP1), from a fetal brain cDNA library (see 222748). The deduced CRMP1 protein has 572 amino acids. Northern blot analysis of adult human tissues showed that CRMP1 is abundantly expressed in brain as a major 2.9-kb transcript and a minor 4.9-kb transcript.
▼ Gene Structure
Torres and Polymeropoulos (1998) determined that the CRMP1 gene contains 14 exons.
Hamajima et al. (1996) found that an EST corresponding to the 3-prime UTR of CRMP1 is located at 4p16.1-p15. By genomic sequence analysis, Torres and Polymeropoulos (1998) mapped the CRMP1 gene to 4p16.1 between markers D4S562 and D4S1059.
Ruiz-Perez et al. (2000) demonstrated overlap between the CRMP1 gene and the EVC gene (604831), which maps to the same region of 4p and is mutated in the Ellis-van Creveld syndrome (225500). The overlap was not confined to the 3-prime UTR but included coding sequence. Because CRMP1 is expressed in developing limb and ectoderm, the autors suggested that this 3-prime complementarity has functional significance.