AP4B1

GENE INFORMATION

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Gene name

AP4B1 (HGNC Symbol)

Synonyms

BETA-4, SPG47

Description

Adaptor-related protein complex 4, beta 1 subunit (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1

Cytoband

p13.2

Chromosome location (bp)

114437370 - 114447823

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134262 (version 75.37)

Entrez gene

10717

UniProt

Q9Y6B7 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6B7

Antibodypedia

AP4B1 antibodies
 

PROTEIN VIEW

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AP4B1-001
 
AP4B1-002
 
AP4B1-005
 
AP4B1-007
 
AP4B1-008
 
AP4B1-009
 
AP4B1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AP4B1-001 ENSP00000256658
ENST00000256658
Q9Y6B7
Show all »
Show » Show » 739 83.3 No 0
AP4B1-002 ENSP00000358580
ENST00000369567
B1ALD0
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Show » Show » 571 64.6 No 0
AP4B1-005 ENSP00000358577
ENST00000369564
B1ALD1
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Show » Show » 296 33.6 No 0
AP4B1-007 ENSP00000358584
ENST00000369571
B1ALD2
Show all »
Show » Show » 262 29.6 No 0
AP4B1-008 ENSP00000393622
ENST00000432415
B1ALD3
Show all »
Show » Show » 175 20.2 No 0
AP4B1-009 ENSP00000358582
ENST00000369569
Q9Y6B7
Show all »
Show » Show » 739 83.3 No 0
AP4B1-201 ENSP00000358579
ENST00000369566
B7Z4X3
Show all »
Show » Show » 302 34.4 No 0