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MGP001040

Record overview

MGPD IDMGP001040
Gene ID2202
SpeciesHomo sapiens (Human)
Gene NameEGF containing fibulin-like extracellular matrix protein 1
Gene Symbol EFEMP1
SynonymsDHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3;
Alternate namesEGF-containing fibulin-like extracellular matrix protein 1; extracellular protein S1-5; fibulin-3;
Chromosome2
Map Location2p16
SummaryThis gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
OrthologsView orthologs and multiple alignments for EFEMP1

Proteins

EGF-containing fibulin-like extracellular matrix protein 1 precursor
Refseq ID:NP_001034437
Protein GI:86788015
UniProt ID:Q12805
mRNA ID:NM_001039348
Length:493
RefSeq Status:
MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTG
VVAASSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQ
CPPGYQKRGEQCVDIDECTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRT
SSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSI
RSDRSVPSDIFQIQATTIYANTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF
 
sig_peptide: 1..17
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1893
peptide sequence: 
MLKALFLTMLTLALVKS

mat_peptide: 18..493
product: EGF-containing fibulin-like extracellular matrix protein 1
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q12805.2)
calculated_mol_wt: 52765
peptide sequence: 
QDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGG
FVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDE
CTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFS
CMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATT
IYANTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF
 
EGF-containing fibulin-like extracellular matrix protein 1 precursor
Refseq ID:NP_001034438
Protein GI:86788132
UniProt ID:Q12805
mRNA ID:NM_001039349
Length:493
RefSeq Status:
Protein sequence is identical to GI:86788015 (mRNA isoform)
 
sig_peptide: 1..17
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1893
peptide sequence: 
MLKALFLTMLTLALVKS

mat_peptide: 18..493
product: EGF-containing fibulin-like extracellular matrix protein 1
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q12805.2)
calculated_mol_wt: 52765
peptide sequence: 
QDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGG
FVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDE
CTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFS
CMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATT
IYANTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF

sig_peptide: 1..17
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 1893
peptide sequence: 
MLKALFLTMLTLALVKS

mat_peptide: 18..493
product: EGF-containing fibulin-like extracellular matrix protein 1
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (Q12805.2)
calculated_mol_wt: 52765
peptide sequence: 
QDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGG
FVASAAAVAGPEMQTGRNNFVIRRNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDE
CTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFS
CMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATT
IYANTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF
 
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