Homo sapiens (human): 2202
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Entry
2202 CDS
T01001
Symbol
EFEMP1, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5
Name
(RefSeq) EGF containing fibulin extracellular matrix protein 1
KO
K18262
EGF-containing fibulin-like extracellular matrix protein 1
Organism
hsa
Homo sapiens (human)
Disease
H00557
Cutis laxa
H00825
Familial flecked retina syndrome
H02110
Doyne honeycomb retinal dystrophy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04147 Exosome [BR:
hsa04147
]
2202 (EFEMP1)
04990 Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
2202 (EFEMP1)
Exosome [BR:
hsa04147
]
Exosomal proteins
Exosomal proteins of other body fluids (saliva and urine)
2202 (EFEMP1)
Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
EGF-like domain-containing proteins
hEGF / cEGF domain-containing proteins
2202 (EFEMP1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
EGF_CA
cEGF
FXa_inhibition
EGF_3
EGF
hEGF
Plasmod_Pvs28
stn_TNFRSF12A
Motif
Other DBs
NCBI-GeneID:
2202
NCBI-ProteinID:
NP_001034437
OMIM:
601548
HGNC:
3218
Ensembl:
ENSG00000115380
UniProt:
Q12805
B2R6M6
A0A0S2Z4F1
LinkDB
All DBs
Position
2:complement(55865967..55923782)
Genome browser
AA seq
493 aa
AA seq
DB search
MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMK
CVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVA
SAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAG
THNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPPYCHQRCVNTPGSFYCQCS
PGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRT
SSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCY
PRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYA
NTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSS
VLRLTIIVGPFSF
NT seq
1482 nt
NT seq
+upstream
nt +downstream
nt
atgttgaaagcccttttcctaactatgctgactctggcgctggtcaagtcacaggacacc
gaagaaaccatcacgtacacgcaatgcactgacggatatgagtgggatcctgtgagacag
caatgcaaagatattgatgaatgtgacattgtcccagacgcttgtaaaggtggaatgaag
tgtgtcaaccactatggaggatacctctgccttccgaaaacagcccagattattgtcaat
aatgaacagcctcagcaggaaacacaaccagcagaaggaacctcaggggcaaccaccggg
gttgtagctgccagcagcatggcaaccagtggagtgttgcccgggggtggttttgtggcc
agtgctgctgcagtcgcaggccctgaaatgcagactggccgaaataactttgtcatccgg
cggaacccagctgaccctcagcgcattccctccaacccttcccaccgtatccagtgtgca
gcaggctacgagcaaagtgaacacaacgtgtgccaagacatagacgagtgcactgcaggg
acgcacaactgtagagcagaccaagtgtgcatcaatttacggggatcctttgcatgtcag
tgccctcctggatatcagaagcgaggggagcagtgcgtagacatagatgaatgtaccatc
cctccatattgccaccaaagatgcgtgaatacaccaggctcattttattgccagtgcagt
cctgggtttcaattggcagcaaacaactatacctgcgtagatataaatgaatgtgatgcc
agcaatcaatgtgctcagcagtgctacaacattcttggttcattcatctgtcagtgcaat
caaggatatgagctaagcagtgacaggctcaactgtgaagacattgatgaatgcagaacc
tcaagctacctgtgtcaatatcaatgtgtcaatgaacctgggaaattctcatgtatgtgc
ccccagggataccaagtggtgagaagtagaacatgtcaagatataaatgagtgtgagacc
acaaatgaatgccgggaggatgaaatgtgttggaattatcatggcggcttccgttgttat
ccacgaaatccttgtcaagatccctacattctaacaccagagaaccgatgtgtttgccca
gtctcaaatgccatgtgccgagaactgccccagtcaatagtctacaaatacatgagcatc
cgatctgataggtctgtgccatcagacatcttccagatacaggccacaactatttatgcc
aacaccatcaatacttttcggattaaatctggaaatgaaaatggagagttctacctacga
caaacaagtcctgtaagtgcaatgcttgtgctcgtgaagtcattatcaggaccaagagaa
catatcgtggacctggagatgctgacagtcagcagtatagggaccttccgcacaagctct
gtgttaagattgacaataatagtggggccattttcattttag
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