KEGG   Homo sapiens (human): 11117
Entry
11117             CDS       T01001                                 
Symbol
EMILIN1, EMI, EMILIN, HMN10, HMND10, gp115
Name
(RefSeq) elastin microfibril interfacer 1
  KO
K24246  emilin
Organism
hsa  Homo sapiens (human)
Disease
H00856  Distal hereditary motor neuropathies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    11117 (EMILIN1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 C1q domain-containing proteins
  Emilin / mutimerin group proteins
   11117 (EMILIN1)
SSDB
Motif
Pfam: EMI C1q Collagen Sec10_N DUF5713
Other DBs
NCBI-GeneID: 11117
NCBI-ProteinID: NP_008977
OMIM: 130660
HGNC: 19880
Ensembl: ENSG00000138080
UniProt: Q9Y6C2
Structure
Position
2:27078615..27086403
AA seq 1016 aa
MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWC
AYVVTRTVSCVLEDGVETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRC
CQGYGGDDCAESPAPALGPASSTPRPLARPARPNLSGSSAGSPLSGLGGEGPGESEKVQQ
LEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAFNGRQQPADAAARPGVHETLNEI
QHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPASAPPGPSEELLRQLEQRLQE
SCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPPQECCSPELGR
RLAELERRLDVVAGSVTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGP
SEEQEESWPGAPGGLSHWLPAARGRLEQLGGLLANVSGELGGRLDLLEEQVAGAMQACGQ
LCSGAPGEQDSQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAGEARQATLEGLQEVVG
RLQDRVDAQDETAAEFTLRLNLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVE
RCSCPLLPPRGPGAGPGVGGPSRGPLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDS
LNELQTTVEGQGADLADLGATKDRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQC
PSLEGRLGRLEGVCERLDTVAGGLQGLREGLSRHVAGLWAGLRETNTTSQMQAALLEKLV
GGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSP
GKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYY
DPETGVFTAPLAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAE
SQPSPGTLGVFSLILPLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA
NT seq 3051 nt   +upstreamnt  +downstreamnt
atggccccccgcaccctctggagctgctacctctgctgcctgctgacggcagctgcaggg
gccgccagctaccctcctcgaggtttcagcctctacacaggttccagtggggccctcagc
cccggggggccccaggcccagattgccccccggccagccagccgccacaggaactggtgt
gcctacgtggtgacccggacagtgagctgtgtccttgaggatggagtggagacatatgtc
aagtaccagccttgtgcctggggccagccccagtgtccccaaagcatcatgtaccgccgc
ttcctccgccctcgctaccgtgtggcctacaagacagtgaccgacatggagtggaggtgc
tgtcagggttatgggggcgatgactgtgctgagagtcccgctccagcgctggggcctgcg
tcttccacaccacggcccctggcccggcctgcccgccccaacctctctggctccagtgca
ggcagccccctcagtggactggggggagaaggtcctggggagtcagagaaggtgcagcag
ctggaggaacaggtgcagagcctgaccaaggagctgcaaggcctgcggggcgtcctgcaa
ggactgagcgggcgcctggcagaggatgtgcagagggctgtggagacggccttcaacggg
aggcagcagccagctgacgcggctgcccgccctggggtgcatgaaaccctcaatgagatc
cagcaccagctgcagctcctggacacccgcgtctccacccacgaccaggagctgggtcac
ctcaacaaccatcatggcggcagcagcagcagtgggggcagcagggccccagccccagcc
tcagcccctccgggccccagtgaggagctgctgcggcagctggagcagcggttgcaggag
tcctgctccgtgtgcctggccgggctagatggcttccgccggcagcagcaggaggacagg
gagcggctgcgagcgatggagaagctgctggcctcggtggaggagcggcaacggcacctc
gcagggctggcggtgggccgcaggccccctcaggaatgctgctctccagagctgggccgg
cgactggcagagctggagcgcaggctggatgtcgtggccggctcagtgacagtgctgagt
gggcggcgaggcacagagctgggaggagccgcggggcagggaggccaccccccaggctac
accagcttggcctcccgcctgtctcgcctggaggaccgcttcaactccaccctgggccct
tcggaggagcaggaggagagctggcctggggctcctggggggctgagccactggctgcct
gctgcccggggccgactagagcagttgggggggctgctggccaatgtgagcggggagctg
ggggggcggttggatctgttggaggagcaggtggcaggggccatgcaggcatgcgggcag
ctctgctctggggcccctggggagcaggactctcaagtcagcgagatcctcagtgccttg
gagcgcagggtgctggacagtgaggggcagctgcggctggtgggctccggcctgcacacg
gtggaagcagcgggggaggcccggcaggccacgctggagggattacaagaggttgtgggc
cggctccaggatcgtgtggatgcccaggatgagacagctgcagagttcacactacggctg
aatctcactgcggcccggctaggccaactggaggggctgctgcaggcccatggggatgag
ggctgtggggcctgtggcggagtccaagaggaactaggccgccttcgggatggtgtggag
cgctgctcctgccccctgttgcctcctcggggtcctggggctggtccaggtgttgggggc
ccaagccgtgggcccctggacggcttcagcgtgtttgggggcagctcaggctcagccctg
caggccctgcaaggagagctctctgaggttattctcagcttcagctccctcaatgactca
ctgaatgagctccagaccactgtggagggccagggcgctgatctggctgacctgggggca
accaaggaccgtatcatttctgagattaacaggctgcagcaggaggccacagagcatgct
acagagagtgaagagcgcttccgaggcctagaggagggacaagcacaggccggccagtgc
cccagcttagaggggcgattgggccgtcttgagggtgtctgtgaacggttggacactgtg
gctgggggactgcagggcctgcgcgagggcctttccagacacgtggctgggctctgggct
gggctccgggaaaccaacaccaccagccagatgcaggcagccctgctggagaagctggtc
gggggacaggcgggcctgggcaggcggctgggtgcccttaacagctccctgcagctcctg
gaggaccgtctgcaccagctcagcctgaaggacctcactgggcctgcaggagaggctggg
cccccagggcctcctgggctgcagggacccccaggccctgctggacctccaggatcacca
ggcaaggacgggcaagagggccccatcgggccaccaggtcctcaaggtgaacagggagtg
gagggggcaccagcagcccctgtgccccaagtggcattttcagctgctctgagtttgccc
cggtctgaaccaggcacggtccccttcgacagagtcctgctcaatgatggaggctattat
gatccagagacaggcgtgttcacagcgccactggctggacgctacttgctgagcgcggtg
ctgactgggcaccggcacgagaaagtggaggccgtgctgtcccgctccaaccagggcgtg
gcccgcgtagactccggtggctacgagcctgagggcctggagaataagccggtggccgag
agccagcccagcccgggcaccctgggcgtcttcagcctcatcctgccgctgcaggccggg
gacacggtctgcgtcgacctggtcatggggcagctggcgcactcggaggagccgctcacc
atcttcagcggggccctgctctatggggacccagagcttgaacacgcgtag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (19)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (27)   
   RefSeq(nuc) (1)   
   GenBank (13)   
   EMBL (13)   
3D Structure (2)   
   PDB (2)   
Protein domain (5)   
   Pfam (5)   
All databases (70)   

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