AP2S1 - adaptor related protein complex 2 subunit sigma 1 Gene

Also Known as AP17; FBH3; HHC3; FBHOk; CLAPS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1175

About AP2S1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,838,167-46,850,846 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 25.3), brain (RPKM 23.2) and 25 other tissues.

Summary

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP2S1 Products (5)

mRNA	Protein	Name
NM_001301076.3	NP_001288005.1	AP-2 complex subunit sigma isoform 3
NM_001301078.3	NP_001288007.1	AP-2 complex subunit sigma isoform 4
NM_001301081.3	NP_001288010.1	AP-2 complex subunit sigma isoform 5
NM_004069.6	NP_004060.2	AP-2 complex subunit sigma isoform AP17
NM_021575.5	NP_067586.1	AP-2 complex subunit sigma isoform AP17delta

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in synaptic vesicle endocytosis	IDA IDA: Inferred from direct assay	11102472	GOA
involved in synaptic vesicle endocytosis	IMP IMP: Inferred from mutant phenotype	11102472	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

AP2S1 Protein Structure

Clat_adaptor_s

0
100
142 a.a.

Protein Preferred Names	Protein Names
AP-2 complex subunit sigma	HA2 17 kDa subunit

AP2S1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Y2H Array	25416956
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	35271311
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Y2H Array	32296183
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Validated Y2H	32296183
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	33961781
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Anti Tag CoIP	28514442
Intra	AP2S1	P53680	AAGAB	Homo sapiens	Q6PD74	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

AP2S1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82387	AP2S1 Antibody (YA2132)	WB, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hypocalciuric Hypercalcemia, Familial, Type Iii	HHC3 Familial Hypocalciuric Hypercalcemia 3 Fbh3 Familial Hypocalciuric Hypercalcemia Type 3 Hypercalcemia, Familial Benign, Oklahoma Type Hypocalciuric Hypercalcemia, Type Iii Fhh Type 3 Hypocalciuric Hypercalcemia Type Iii Familial Benign Hypercalcemia, Type Iii Hypercalcemia, Familial Benign, Type Iii Fbhok Familial Benign Hypercalcemia, Oklahoma Variant Familial Benign Hypercalcemia, Type 3 Hypercalcemia, Familial Benign, Type 3 Hypocalciuric Hypercalcemia, Familial, Type 3 Hypocalciuric Hypercalcemia, Familial 3 Familial Benign Hypercalcemia 3 Familial Benign Hypercalcemia Oklahoma Type Familial Benign Hypocalciuric Hypercalcemia 3 Fbhh3 Fhh3
Hypocalciuric Hypercalcemia, Familial, Type I	HHC1 Familial Hypocalciuric Hypercalcemia 1 Fhh1 Familial Benign Hypercalcemia 1 Fbh1 Hypocalciuric Hypercalcemia, Type I Fhh Type 1 Hhc Fhh Hypercalcemia, Familial Benign Hypocalciuric Hypercalcemia Type I Familial Hypocalciuric Hypercalcemia Type 1 Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Hypocalciuric Hypercalcemia Type I Familial Benign Hypercalcemia Type 1 Hypercalcemia, Familial Benign Type 1 Hypocalciuric Hypercalcemia, Familial 1 Familial Benign Hypocalciuric Hypercalcemia 1 Fbhh1
Hypocalciuric Hypercalcemia, Familial, Type Ii	HHC2 Familial Hypocalciuric Hypercalcemia 2 Fbh2 Familial Hypocalciuric Hypercalcemia Type 2 Hypocalciuric Hypercalcemia, Type Ii Fhh Type 2 Familial Benign Hypercalcemia, Type Ii Hypercalcemia, Familial Benign, Type Ii Hypocalciuric Hypercalcemia Type Ii Familial Benign Hypercalcemia, Type 2 Hypercalcemia, Familial Benign Type 2 Hypocalciuric Hypercalcemia, Familial, Type 2 Hypocalciuric Hypercalcemia, Familial 2 Familial Benign Hypercalcemia Type Ii Hypocalciuric Hypercalcemia-2
Familial Hypocalciuric Hypercalcemia	Familial Benign Hypercalcemia Fbh Fbhh Fhh Familial Benign Hypocalciuric Hypercalcemia Hypocalciuric Hypercalcemia, Familial, Type 1
Chondrocalcinosis	Pseudogout Calcium Pyrophosphate Deposition Disease Familial Chondrocalcinosis Chondrocalcinosis Nos Cppd - [Calcium Pyrophosphate Deposition Disease] Cpdd - [Calcium Pyrophosphate Deposition Disease] Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site Chondrocalcinosis, Cause Unspecified Chondrocalcinosis Due To Pyrophosphate Crystals Chondrocalcinosis Articularis Calcium Pyrophosphate Arthritis And Periarthritis
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Parathyroid, Underactivity Of Syndrome With Hypoparathyroidism Deficiency Of Parathyroid Hormone Parathyroid Gland Insufficiency Parathyroid Insufficiency Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Osteitis Fibrosa	Osteitis Fibrosa Cystica Hyperparathyroid Bone Disease Osteitis Fibrosa Cystica Generalisata Von Recklinghausen'S Bone Disease Osteitis Fibrosa Disseminata
Multiple Endocrine Neoplasia, Type Iv	Multiple Endocrine Neoplasia Type 4 MEN4 Multiple Endocrine Neoplasia 4 Neoplasia, Endocrine, Multiple, Type Iv
Parathyroid Gland Disease	Parathyroid Diseases Disease Of Parathyroid Glands Parathyroid Disease
Parathyroid Adenoma	Adenoma Of Parathyroid Adenoma Of The Parathyroid Gland Parathyroid Gland Adenoma
Familial Isolated Hypoparathyroidism	Fih
Primary Hyperparathyroidism	Familial Primary Hyperparathyroidism Hyperparathyroidism, Primary Hyperparathyroidism Primary Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Benign Hypercalcemia Familial Hyperparathyroidism Parathyroid Enlargement
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00788	AP2S1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AP2S1	VGNC	VGNC:97353
Mus musculus	AP2S1	MGD	MGI:2141861
Canis familiaris	AP2S1	VGNC	VGNC:37962
Macaca mulatta	AP2S1	VGNC	VGNC:69966
Rattus norvegicus	AP2S1	RGD	RGD:620188
Bos taurus	AP2S1	VGNC	VGNC:25986
Others	AP2S1	NCBI