KEGG   Homo sapiens (human): 274
Entry
274               CDS       T01001                                 
Symbol
BIN1, AMPH2, AMPHL, CNM2, SH3P9
Name
(RefSeq) bridging integrator 1
  KO
K12562  amphiphysin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
hsa04666  Fc gamma R-mediated phagocytosis
Disease
H00700  Centronuclear myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    274 (BIN1)
 09150 Organismal Systems
  09151 Immune system
   04666 Fc gamma R-mediated phagocytosis
    274 (BIN1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    274 (BIN1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Other core components
    274 (BIN1)
  Bin/Amphiphysin/Rvs (BAR) family proteins
   N-BAR proteins
    274 (BIN1)
 Others
  Actin-binding proteins
   Nucleation-promoting factors (NPFs)
    274 (BIN1)
SSDB
Motif
Pfam: BAR SH3_9 SH3_2 SH3_1 Exo70_N THP2
Other DBs
NCBI-GeneID: 274
NCBI-ProteinID: NP_647593
OMIM: 601248
HGNC: 1052
Ensembl: ENSG00000136717
UniProt: O00499
Structure
Position
2:complement(127048023..127107154)
AA seq 593 aa
MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTR
LQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVD
QALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEK
AAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVN
TFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPP
DGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILS
LFEDTFVPEISVTTPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLW
EPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGET
AASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQ
LKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP
NT seq 1782 nt   +upstreamnt  +downstreamnt
atggcagagatgggcagtaaaggggtgacggcgggaaagatcgccagcaacgtgcagaag
aagctcacccgcgcgcaggagaaggttctccagaagctggggaaggcagatgagaccaag
gatgagcagtttgagcagtgcgtccagaatttcaacaagcagctgacggagggcacccgg
ctgcagaaggatctccggacctacctggcctccgtcaaagccatgcacgaggcttccaag
aagctgaatgagtgtctgcaggaggtgtatgagcccgattggcccggcagggatgaggca
aacaagatcgcagagaacaacgacctgctgtggatggattaccaccagaagctggtggac
caggcgctgctgaccatggacacgtacctgggccagttccccgacatcaagtcacgcatt
gccaagcgggggcgcaagctggtggactacgacagtgcccggcaccactacgagtccctt
caaactgccaaaaagaaggatgaagccaaaattgccaagcctgtctcgctgcttgagaaa
gccgccccccagtggtgccaaggcaaactgcaggctcatctcgtagctcaaactaacctg
ctccgaaatcaggccgaggaggagctcatcaaagcccagaaggtgtttgaggagatgaat
gtggatctgcaggaggagctgccgtccctgtggaacagccgcgtaggtttctacgtcaac
acgttccagagcatcgcgggcctggaggaaaacttccacaaggagatgagcaagctcaac
cagaacctcaatgatgtgctggtcggcctggagaagcaacacgggagcaacaccttcacg
gtcaaggcccagcccagtgacaacgcgcctgcaaaagggaacaagagcccttcgcctcca
gatggctcccctgccgccacccccgagatcagagtcaaccacgagccagagccggccggc
ggggccacgcccggggccaccctccccaagtccccatctcagctccggaaaggcccacca
gtccctccgcctcccaaacacaccccgtccaaggaagtcaagcaggagcagatcctcagc
ctgtttgaggacacgtttgtccctgagatcagcgtgaccaccccctcccagtttgaggcc
ccggggcctttctcggagcaggccagtctgctggacctggactttgaccccctcccgccc
gtgacgagccctgtgaaggcacccacgccctctggtcagtcaattccatgggacctctgg
gagcccacagagagtccagccggcagcctgccttccggggagcccagcgctgccgagggc
acctttgctgtgtcctggcccagccagacggccgagccggggcctgcccaaccagcagag
gcctcggaggtggcgggtgggacccaacctgcggctggagcccaggagccaggggagacg
gcggcaagtgaagcagcctccagctctcttcctgctgtcgtggtggagaccttcccagca
actgtgaatggcaccgtggagggcggcagtggggccgggcgcttggacctgcccccaggt
ttcatgttcaaggtacaggcccagcacgactacacggccactgacacagacgagctgcag
ctcaaggctggtgatgtggtgctggtgatccccttccagaaccctgaagagcaggatgaa
ggctggctcatgggcgtgaaggagagcgactggaaccagcacaaggagctggagaagtgc
cgtggcgtcttccccgagaacttcactgagagggtcccatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (23)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (18)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (16)   
DNA sequence (74)   
   RefSeq(nuc) (16)   
   GenBank (29)   
   EMBL (29)   
3D Structure (7)   
   PDB (7)   
Protein domain (6)   
   Pfam (6)   
All databases (130)   

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