2. Gene
  3. AP1M1 - adaptor related protein complex 1 subunit mu 1 Gene

AP1M1 - adaptor related protein complex 1 subunit mu 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AP47; mu1A; CLTNM; MU-1A; CLAPM2

Gene ID: 8907 | Gene type: protein coding

About AP1M1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,197,911-16,245,906 (from NCBI)

This gene has 15 transcripts (splice variants), 209 orthologues and 7 paralogues. Ubiquitous expression in testis (RPKM 31.3), brain (RPKM 17.8) and 25 other tissues.

Summary

The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

AP1M1 Products(2)

mRNA Protein Name
NM_001130524.2 NP_001123996.1 AP-1 complex subunit mu-1 isoform 1
NM_032493.4 NP_115882.1 AP-1 complex subunit mu-1 isoform 2

AP1M1 Protein Structure

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (5 - 133)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (157 - 421)

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  • 423 a.a.
Protein Preferred Names Protein Names

AP-1 complex subunit mu-1

AP-mu chain family member mu1A

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
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
Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00779 AP1M1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus AP1M1 MGD MGI:102776
Macaca mulatta AP1M1 VGNC VGNC:69824
Canis familiaris AP1M1 VGNC VGNC:37954
Felis catus AP1M1 VGNC VGNC:59840
Rattus norvegicus AP1M1 RGD RGD:1307653
Bos taurus AP1M1 VGNC VGNC:25979