HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
Gene ID: 8925, updated on 7-Apr-2024Gene type: protein coding
Also known as: p532; p619; MDFPMR
- See all available tests in GTR for this gene
- Go to complete Gene record for HERC1
- Go to Variation Viewer for HERC1 variants
Summary
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. GeneReviews: Not available | |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | See labs |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (63608618..63833948, complement)
- Total number of exons:
- 81
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HERC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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