KEGG   Homo sapiens (human): 90678
Entry
90678             CDS       T01001                                 
Symbol
LRSAM1, CMT2P, RIFLE, TAL
Name
(RefSeq) leucine rich repeat and sterile alpha motif containing 1
  KO
K10641  E3 ubiquitin-protein ligase LRSAM1 [EC:2.3.2.27]
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    90678 (LRSAM1)
   04121 Ubiquitin system [BR:hsa04121]
    90678 (LRSAM1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.27  RING-type E3 ubiquitin transferase
     90678 (LRSAM1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Xenophagy
   Other xenophagy associated proteins
    90678 (LRSAM1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Other single Ring-finger type E3
    90678 (LRSAM1)
SSDB
Motif
Pfam: LRR_8 zf-C3HC4_3 LRR_4 SAM_1 SAM_2 Prok-RING_4 zf-RING_2
Other DBs
NCBI-GeneID: 90678
NCBI-ProteinID: NP_001005373
OMIM: 610933
HGNC: 25135
Ensembl: ENSG00000148356
UniProt: Q6UWE0
Position
9:127451486..127503501
AA seq 723 aa
MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEIPFGAFATCKVLQKKVL
IVHTNHLTSLLPKSCSLLSLATIKVLDLHDNQLTALPDDLGQLTALQVLNVERNQLMQLP
RSIGNLTQLQTLNVKDNKLKELPDTVGELRSLRTLNISGNEIQRLPQMLAHVRTLEMLSL
DASAMVYPPREVCGAGTAAILQFLCKESGLEYYPPSQYLLPILEQDGIENSRDSPDGPTD
RFSREELEWQNRFSDYEKRKEQKMLEKLEFERRLELGQREHTQLLQQSSSQKDEILQTVK
EEQSRLEQGLSEHQRHLNAERQRLQEQLKQTEQNISSRIQKLLQDNQRQKKSSEILKSLE
NERIRMEQLMSITQEETESLRRRDVASAMQQMLTESCKNRLIQMAYESQRQNLVQQACSS
MAEMDERFQQILSWQQMDQNKAISQILQESAMQKAAFEALQVKKDLMHRQIRSQIKLIET
ELLQLTQLELKRKSLDTESLQEMISEQRWALSSLLQQLLKEKQQREEELREILTELEAKS
ETRQENYWLIQYQRLLNQKPLSLKLQEEGMERQLVALLEELSAEHYLPIFAHHRLSLDLL
SQMSPGDLAKVGVSEAGLQHEILRRVQELLDAARIQPELKPPMGEVVTPTAPQEPPESVR
PSAPPAELEVQASECVVCLEREAQMIFLNCGHVCCCQQCCQPLRTCPLCRQDIAQRLRIY
HSS
NT seq 2172 nt   +upstreamnt  +downstreamnt
atgccgctcttcttccggaagcggaaacccagtgaggaggctcggaaacgcctggagtac
cagatgtgtttggcaaaagaagctggggcagatgacattctcgacatctctaaatgtgag
ctctcagagattccatttggagcttttgcaacatgcaaagttctgcagaagaaggtgctg
atcgtccacacgaatcacctcacttccctgcttcccaaatcctgcagcctcctgagtctg
gcaaccatcaaggttctagatctccacgataatcagctgacagcccttcctgacgatctg
gggcagctgactgccctccaggtcttaaacgtggaaaggaatcaactgatgcagctccca
cgttccattgggaacctgacccagctccagactctcaatgttaaagacaacaagctgaag
gagcttccagacaccgtgggggagcttcgaagcctgcgtaccctcaacatcagtggaaac
gagatccagagattgccgcagatgctggctcacgttcgaaccctggagatgctgagcctt
gacgcctcggccatggtctacccgccgcgggaggtgtgtggtgccggcactgcggccatc
ttgcagttcctctgcaaagagtcagggctggaatactaccccccttctcagtacttgctg
ccaattctggagcaagatggaatcgagaactctcgggacagccctgatgggcccacggac
agattctcaagggaggagttagagtggcagaacaggttctcagactatgagaagaggaag
gaacagaagatgctggagaaactcgagtttgaacggcgcctggaactggggcagcgggag
cacacccagctccttcagcagagcagcagccagaaggatgagatccttcagacggtcaag
gaggagcagtcccggctggagcagggcctgagtgagcaccagcgccacctcaacgcagag
cggcagcggctgcaggagcagctgaagcagacggaacagaacatttccagccggatccag
aagctgctgcaggacaatcagagacaaaagaaaagctccgagattttgaaatcgctggaa
aatgaaagaataagaatggaacagttgatgtccataacccaggaggagactgagagcctg
cggcgacgtgacgttgcctccgccatgcagcagatgctgactgagagctgtaagaaccgg
ctcatccagatggcctacgaatctcagaggcagaacttggtccagcaggcctgttccagc
atggccgaaatggatgaacgattccagcagattctgtcgtggcagcaaatggatcagaac
aaagccatcagccagatcctgcaggagagcgcgatgcagaaggctgcgttcgaggcactc
caggtgaagaaagacctgatgcatcggcagatcaggagccagattaagttaatagaaact
gagttattgcagctgacacagctggagttaaagaggaagtccctggacacagagtcactc
caggagatgatctcggagcagcgctgggccctcagctccctgctccagcagctgctcaaa
gagaagcagcagcgagaggaagagctccgggaaatcctgacggagttagaagccaaaagt
gaaaccaggcaggaaaattactggctgattcagtatcaacggcttttgaaccagaagccc
ttgtccttgaagctgcaagaagaggggatggagcgccagctggtggccctcctggaggag
ctgtcggctgagcactacctgcccatctttgcgcaccaccgcctctcactggacctgctg
agccaaatgagcccaggggacctggccaaggtgggcgtctcagaagctggcctgcagcac
gagatcctccggagagtccaggaactgctggatgcagccaggatccagccagagctgaaa
ccaccaatgggtgaggtcgtcacccctacggccccccaggagcctcctgagtctgtgagg
ccatccgctccccctgcagagctggaggtgcaggcctcagagtgtgtcgtgtgcctggaa
cgggaggcccagatgatcttcctcaactgtggccacgtctgctgctgccagcagtgctgc
cagccactgcgcacctgcccgctgtgccgccaggacatcgcccagcgcctccgcatctac
cacagcagctga

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (43)   
   RefSeq(nuc) (13)   
   GenBank (15)   
   EMBL (15)   
Protein domain (7)   
   Pfam (7)   
All databases (95)   

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