AAGAB - alpha and gamma adaptin binding protein Gene

Also Known as p34; KPPP1; PPKP1; PPKP1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79719

About AAGAB

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:67,200,667-67,255,198 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.8), colon (RPKM 11.4) and 25 other tissues.

Summary

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

AAGAB Products (3)

mRNA Protein Name
NM_001271885.2 NP_001258814.1 alpha- and gamma-adaptin-binding protein p34 isoform 2
NM_001271886.2 NP_001258815.1 alpha- and gamma-adaptin-binding protein p34 isoform 2
NM_024666.5 NP_078942.3 alpha- and gamma-adaptin-binding protein p34 isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AAGAB Protein Structure

Adaptin_binding

Adaptin_binding: Alpha and gamma adaptin binding protein p34 (155 - 294)

  • 0
  • 100
  • 200
  • 300
  • 315 a.a.
Protein Preferred Names Protein Names

alpha- and gamma-adaptin-binding protein p34

AAGAB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AAGAB Q6PD74 AP1G1 Homo sapiens O43747-2
Anti Tag CoIP
28514442
Intra
AAGAB Q6PD74 HEATR1 Homo sapiens Q96ES5
Validated Y2H
25416956
Intra
AAGAB Q6PD74 HEATR1 Homo sapiens Q96ES5
Y2H Prey Pooling
25416956
Intra
AAGAB Q6PD74 HEATR1 Homo sapiens Q96ES5
Y2H Array
25416956
Intra
AAGAB Q6PD74 AP1S3 Homo sapiens Q96PC3-2
Validated Y2H
32296183
Intra
AAGAB Q6PD74 AP2A2 Homo sapiens O94973
Anti Tag CoIP
33961781
Intra
AAGAB Q6PD74 AP2S1 Homo sapiens P53680
Y2H Prey Pooling
25416956
Intra
AAGAB Q6PD74 AP2S1 Homo sapiens P53680
Y2H Array
29892012
Intra
AAGAB Q6PD74 AP2S1 Homo sapiens P53680
Validated Y2H
25416956
Intra
AAGAB Q6PD74 AP1S3 Homo sapiens Q96PC3
Y2H Prey Pooling
25416956
Intra
AAGAB Q6PD74 AP1S3 Homo sapiens Q96PC3
Validated Y2H
25416956
Intra
AAGAB Q6PD74 AP1S3 Homo sapiens Q96PC3
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Palmoplantar Keratoderma, Punctate Type Ia

  • Keratosis Palmoplantaris Papulosa

  • Punctate Palmoplantar Keratoderma Type I

  • Ppkp1

  • Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

  • PPKP1A

  • Kppp1

  • Punctate Palmoplantar Keratoderma Type 1

  • Palmoplantar Keratoderma, Punctate Type 1a

  • Palmoplantar Keratoderma, Punctate Type I

  • Keratoderma, Palmoplantar, Punctate Type Ia

  • Punctate Palmoplantar Keratoderma Type 1a

  • Punctate Palmoplantar Keratoderma Type 1b

  • Brauer-Buschke-Fischer Syndrome

  • Keratoderma, Palmoplantar Punctate Type 1

  • Type I Punctate Palmoplantar Keratoderma

  • Buschke-Fischer-Brauer Syndrome

  • Keratoderma, Palmoplantar, Punctate 1a

  • Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

  • Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

  • Punctate Palmoplantar Keratoderma Type Ia

  • Keratoderma, Palmoplantar, Punctate Type 1

  • Keratoderma, Palmoplantar, Punctate, Type Ia
Punctate Palmoplantar Keratoderma

  • Punctate Palmoplantar Hyperkeratosis

  • Punctate Keratosis Palmoplantaris

  • Punctate Ppk
Palmoplantar Keratosis

  • Palmoplantar Keratoderma

  • Keratosis Palmaris Et Plantaris

  • Palmo-Plantar Keratodermas

  • Keratoderma, Palmoplantar

  • Keratoderma Palmoplantar

  • Keratoderma, Palmoplantar, Diffuse

  • Hyperkeratosis Of Palms And Soles

  • Palmoplantar Hyperkeratosis
Palmoplantar Keratoderma, Punctate Type Ii

  • PPKP2

  • Porokeratosis Punctata Palmaris Et Plantaris

  • Pppp

  • Punctate Palmoplantar Keratoderma Type 2

  • Punctate Palmoplantar Keratoderma Type Ii

  • Punctate Palmoplantar Hyperkeratosis Type 2

  • Keratoderma Palmoplantar, Punctate Type 2

  • Type 2 Punctate Ppk

  • Keratoderma, Palmoplantar, Punctate Type Ii

  • Porokeratosis, Palmoplantar
Plantar Wart

  • Verruca Plantaris

  • Verrucae On Sole Of Foot

  • Mosaic Plantar Warts
Spastic Paraplegia 50, Autosomal Recessive

  • Hereditary Spastic Paraplegia 50

  • SPG50

  • Ap-4 Deficiency Syndrome

  • Ap-4-Associated Hereditary Spastic Paraplegia

  • Adaptor Protein Complex 4 Deficiency

  • Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

  • Cpsq3, Formerly

  • Autosomal Recessive Spastic Paraplegia 50

  • Cpsq3

  • Spastic Quadriplegic Cerebral Palsy 3

  • Ap-4 Deficiency

  • Ap-4-Associated Hsp

  • Paraplegia, Spastic, Autosomal Recessive, Type 50

  • Spastic Paraplegia-50, Autosomal Recessive
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

  • Cednik Syndrome

  • CEDNIK

  • Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome

  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro

  • Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome

  • Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome

  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma

  • Neurocutaneous Syndromes
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

  • Olmsted Syndrome

  • Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

  • Palmoplantar And Periorificial Keratoderma

  • Olms
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00019 AAGAB Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris AAGAB VGNC VGNC:37409
Bos taurus AAGAB VGNC VGNC:25442
Mus musculus AAGAB MGD MGI:1914189
Macaca mulatta AAGAB VGNC VGNC:107990
Felis catus AAGAB VGNC VGNC:59450
Rattus norvegicus AAGAB RGD RGD:621601
Others AAGAB NCBI