Homo sapiens (human): 11117
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Entry
11117 CDS
T01001
Symbol
EMILIN1, ATBFS, 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
H02830
Arterial tortuosity-bone fragility syndrome
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
EMI
C1q
Collagen
Sec10_N
DUF5713
FUSC
ATG16
Motif
Other DBs
NCBI-GeneID:
11117
NCBI-ProteinID:
NP_008977
OMIM:
130660
HGNC:
19880
Ensembl:
ENSG00000138080
UniProt:
Q9Y6C2
Structure
PDB
PDBj
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All DBs
Position
2:27078615..27086403
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AA seq
1016 aa
AA seq
DB search
MAPRTLWSCYLCCLLTAAAGAASYPPRGFSLYTGSSGALSPGGPQAQIAPRPASRHRNWC
AYVVTRTVSCVLEDGVETYVKYQPCAWGQPQCPQSIMYRRFLRPRYRVAYKTVTDMEWRC
CQGYGGDDCAESPAPALGPASSTPRPLARPARPNLSGSSAGSPLSGLGGEGPGESEKVQQ
LEEQVQSLTKELQGLRGVLQGLSGRLAEDVQRAVETAFNGRQQPADAAARPGVHETLNEI
QHQLQLLDTRVSTHDQELGHLNNHHGGSSSSGGSRAPAPASAPPGPSEELLRQLEQRLQE
SCSVCLAGLDGFRRQQQEDRERLRAMEKLLASVEERQRHLAGLAVGRRPPQECCSPELGR
RLAELERRLDVVAGSVTVLSGRRGTELGGAAGQGGHPPGYTSLASRLSRLEDRFNSTLGP
SEEQEESWPGAPGGLSHWLPAARGRLEQLGGLLANVSGELGGRLDLLEEQVAGAMQACGQ
LCSGAPGEQDSQVSEILSALERRVLDSEGQLRLVGSGLHTVEAAGEARQATLEGLQEVVG
RLQDRVDAQDETAAEFTLRLNLTAARLGQLEGLLQAHGDEGCGACGGVQEELGRLRDGVE
RCSCPLLPPRGPGAGPGVGGPSRGPLDGFSVFGGSSGSALQALQGELSEVILSFSSLNDS
LNELQTTVEGQGADLADLGATKDRIISEINRLQQEATEHATESEERFRGLEEGQAQAGQC
PSLEGRLGRLEGVCERLDTVAGGLQGLREGLSRHVAGLWAGLRETNTTSQMQAALLEKLV
GGQAGLGRRLGALNSSLQLLEDRLHQLSLKDLTGPAGEAGPPGPPGLQGPPGPAGPPGSP
GKDGQEGPIGPPGPQGEQGVEGAPAAPVPQVAFSAALSLPRSEPGTVPFDRVLLNDGGYY
DPETGVFTAPLAGRYLLSAVLTGHRHEKVEAVLSRSNQGVARVDSGGYEPEGLENKPVAE
SQPSPGTLGVFSLILPLQAGDTVCVDLVMGQLAHSEEPLTIFSGALLYGDPELEHA
NT seq
3051 nt
NT seq
+upstream
nt +downstream
nt
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
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integrated database retrieval system
