Human Gene AP4B1 (ENST00000369569.6) from GENCODE V44
Description: Homo sapiens adaptor related protein complex 4 subunit beta 1 (AP4B1), transcript variant 2, mRNA. (from RefSeq NM_001253852) RefSeq Summary (NM_001253852): This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Gencode Transcript: ENST00000369569.6 Gencode Gene: ENSG00000134262.13 Transcript (Including UTRs) Position: hg38 chr1:113,894,194-113,904,799 Size: 10,606 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr1:113,895,065-113,904,717 Size: 9,653 Coding Exon Count: 10
ID:AP4B1_HUMAN DESCRIPTION: RecName: Full=AP-4 complex subunit beta-1; AltName: Full=AP-4 adapter complex subunit beta; AltName: Full=Adapter-related protein complex 4 subunit beta-1; AltName: Full=Beta subunit of AP-4; AltName: Full=Beta4-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). Interacts with C17orf56/tepsin; this interaction requires the presence of a functional AP-4 complex. 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 AP4B1 are the cause of cerebral palsy spastic quadriplegic type 5 (CPSQ5) [MIM:614066]. CPSQ5 is a neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. SIMILARITY: Belongs to the adaptor complexes large subunit family. SEQUENCE CAUTION: Sequence=BAD93054.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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 PF09066 - Beta2-adaptin appendage, C-terminal sub-domain
ModBase Predicted Comparative 3D Structure on Q9Y6B7
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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.