AP1S1 - adaptor related protein complex 1 subunit sigma 1 Gene

Also Known as AP19; EKV3; CLAPS1; MEDNIK; SIGMA1A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1174

About AP1S1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:101,154,476-101,161,276 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 52.8), colon (RPKM 23.4) and 23 other tissues.

Summary

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

AP1S1 Products (1)

mRNA	Protein	Name
NM_001283.5	NP_001274.1	AP-1 complex subunit sigma-1A

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in response to virus	IEP IEP: Inferred from expression pattern	16548883	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

AP1S1 Protein Structure

Clat_adaptor_s

0
100
158 a.a.

Protein Preferred Names	Protein Names
AP-1 complex subunit sigma-1A	HA1 19 kDa subunit

Related Diseases

Diseases	Alias
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Mednik Syndrome Erythrokeratodermia Variabilis 3 MEDNIK Ekv3 Erythrokeratodermia Variabilis, Kamouraska Type Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma Erythrokeratodermia Variabilis Kamouraska Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
Congenital Diarrhea
Spinal Muscular Atrophy, Distal, X-Linked 3	SMAX3 Dsmax X-Linked Distal Spinal Muscular Atrophy Type 3 X-Linked Distal Spinal Muscular Atrophy 3 Atp7a-Related Distal Motor Neuropathy X-Linked Dhmn3 X-Linked Distal Hereditary Motor Neuropathy Type 3 X-Linked Dsma3 Spinal Muscular Atrophy, Distal, X-Linked Recessive X-Linked Recessive Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy, X-Linked, 3 DSMAX3 Spinal Muscular Atrophy Distal X-Linked Recessive Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
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
Pettigrew Syndrome	PGS Mrxs5 Mrx59 Mrxs21 X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome Mental Retardation, X-Linked, Syndromic 5 Mrxsf Syndromic X-Linked Intellectual Disability 5 Fried Syndrome Mental Retardation, X-Linked Syndromic 5 Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures Mental Retardation, X-Linked, Syndromic, Fried Type Mental Retardation, X-Linked, Syndromic 21 Syndromic X-Linked Mental Retardation 21 Syndromic X-Linked Mental Retardation Fried Type X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures X-Linked Syndromic Intellectual Disability 5 X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome Mental Retardation, X-Linked Syndromic, Fried Type Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Mental Retardation, X-Linked 59
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Punctate Palmoplantar Keratoderma	Punctate Palmoplantar Hyperkeratosis Punctate Keratosis Palmoplantaris Punctate Ppk
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Hemochromatosis, Type 5	Hemochromatosis Type 5 HFE5 Fth1-Related Iron Overload Iron Overload, Autosomal Dominant Fth1-Associated Iron Overload Hemochromatosis 5 Autosomal Dominant Iron Overload
Plantar Wart	Verruca Plantaris Verrucae On Sole Of Foot Mosaic Plantar Warts
Menkes Disease	Copper Transport Disease Menkes Syndrome MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Syndromic Intellectual Disability

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-RS00781	AP1S1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AP1S1	VGNC	VGNC:25981
Canis familiaris	AP1S1	VGNC	VGNC:37956
Macaca mulatta	AP1S1	VGNC	VGNC:69960
Mus musculus	AP1S1	MGD	MGI:1098244
Felis catus	AP1S1	VGNC	VGNC:107738
Rattus norvegicus	AP1S1	RGD	RGD:1305911
Others	AP1S1	NCBI