Human Gene AP4E1 (ENST00000261842.10) from GENCODE V44
Description: Homo sapiens adaptor related protein complex 4 subunit epsilon 1 (AP4E1), transcript variant 1, mRNA. (from RefSeq NM_007347) RefSeq Summary (NM_007347): This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. Gencode Transcript: ENST00000261842.10 Gencode Gene: ENSG00000081014.11 Transcript (Including UTRs) Position: hg38 chr15:50,908,683-51,005,895 Size: 97,213 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chr15:50,908,779-51,002,662 Size: 93,884 Coding Exon Count: 21
ID:AP4E1_HUMAN DESCRIPTION: RecName: Full=AP-4 complex subunit epsilon-1; AltName: Full=AP-4 adapter complex subunit epsilon; AltName: Full=Adapter-related protein complex 4 subunit epsilon-1; AltName: Full=Epsilon subunit of AP-4; AltName: Full=Epsilon-adaptin; FUNCTION: Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. SUBUNIT: Adapter-like complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells. TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in AP4E1 are the cause of cerebral palsy spastic quadriplegic type 4 (CPSQ4) [MIM:613744]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. SIMILARITY: Belongs to the adaptor complexes large subunit family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01602 - Adaptin N terminal region PF07718 - Coatomer beta C-terminal region
ModBase Predicted Comparative 3D Structure on Q9UPM8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
