KEGG   Homo sapiens (human): 1173
Entry
1173              CDS       T01001                                 
Symbol
AP2M1, AP50, CLAPM1, MRD60, mu2
Name
(RefSeq) adaptor related protein complex 2 subunit mu 1
  KO
K11826  AP-2 complex subunit mu-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
hsa04721  Synaptic vesicle cycle
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa05016  Huntington disease
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    1173 (AP2M1)
 09150 Organismal Systems
  09155 Excretory system
   04961 Endocrine and other factor-regulated calcium reabsorption
    1173 (AP2M1)
  09156 Nervous system
   04721 Synaptic vesicle cycle
    1173 (AP2M1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    1173 (AP2M1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1173 (AP2M1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   AP-2 complex
    1173 (AP2M1)
SSDB
Motif
Pfam: Adap_comp_sub Clat_adaptor_s muHD
Other DBs
NCBI-GeneID: 1173
NCBI-ProteinID: NP_004059
OMIM: 601024
HGNC: 564
Ensembl: ENSG00000161203
UniProt: Q96CW1
Structure
Position
3:184174855..184184091
AA seq 435 aa
MIGGLFIYNHKGEVLISRVYRDDIGRNAVDAFRVNVIHARQQVRSPVTNIARTSFFHVKR
SNIWLAAVTKQNVNAAMVFEFLYKMCDVMAAYFGKISEENIKNNFVLIYELLDEILDFGY
PQNSETGALKTFITQQGIKSQHQTKEEQSQITSQVTGQIGWRREGIKYRRNELFLDVLES
VNLLMSPQGQVLSAHVSGRVVMKSYLSGMPECKFGMNDKIVIEKQGKGTADETSKSGKQS
IAIDDCTFHQCVRLSKFDSERSISFIPPDGEFELMRYRTTKDIILPFRVIPLVREVGRTK
LEVKVVIKSNFKPSLLAQKIEVRIPTPLNTSGVQVICMKGKAKYKASENAIVWKIKRMAG
MKESQISAEIELLPTNDKKKWARPPISMNFEVPFAPSGLKVRYLKVFEPKLNYSDHDVIK
WVRYIGRSGIYETRC
NT seq 1308 nt   +upstreamnt  +downstreamnt
atgattggaggcttattcatctataatcacaagggggaggtgctcatctcccgagtctac
cgagatgacatcgggaggaacgcagtggatgcctttcgggtcaatgttatccatgcccgg
cagcaggtgcgcagccccgtcaccaacattgctcgcaccagcttcttccacgttaagcgg
tccaacatttggctggcagcagtcaccaagcagaatgtcaacgctgccatggtcttcgaa
ttcctctataagatgtgtgacgtgatggctgcctactttggcaagatcagcgaggaaaac
atcaagaacaattttgtgctcatatatgagctgctggatgagattctagactttggctac
ccacagaattccgagacaggcgcgctgaaaaccttcatcacgcagcagggcatcaagagt
cagcatcagacaaaagaagagcagtcacagatcaccagccaggtaactgggcagattggc
tggcggcgagagggtatcaagtatcgtcggaatgagctcttcctggatgtgctggagagt
gtgaacctgctcatgtccccacaagggcaggtgctgagtgcccatgtgtcgggccgggtg
gtgatgaagagctacctgagtggcatgcctgaatgcaagtttgggatgaatgacaagatt
gttattgaaaagcagggcaaaggcacagctgatgaaacaagcaagagcgggaagcaatca
attgccattgatgactgcaccttccaccagtgtgtgcgactcagcaagtttgactctgaa
cgcagcatcagctttatcccgccagatggagagtttgagcttatgaggtatcgcacaacc
aaggacatcatccttcccttccgggtgatcccgctagtgcgagaagtgggacgcaccaaa
ctggaggtcaaggtggtcatcaagtccaactttaaaccctcactgctggctcagaagatc
gaggtgaggatcccaaccccactgaacacaagcggggtgcaggtgatctgcatgaagggg
aaggccaagtacaaggccagcgagaatgccatcgtgtggaagatcaagcgcatggcaggc
atgaaggaatcgcagatcagcgcagagattgagcttctgcctaccaacgacaagaagaaa
tgggctcgaccccccatttccatgaactttgaggtgccattcgcgccctctggcctcaag
gtgcgctacttgaaggtgtttgaaccgaagctgaactacagcgaccatgatgtcatcaaa
tgggtgcgctacattggccgcagtggcatttatgaaactcgctgctag

  All links  
Disease (2)   
   OMIM (2)   
Gene (80)   
   RefGene (42)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (33)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (35)   
   RefSeq(nuc) (3)   
   GenBank (16)   
   EMBL (16)   
3D Structure (3)   
   PDB (3)   
Protein domain (3)   
   Pfam (3)   
All databases (128)   

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