KEGG   Homo sapiens (human): 10516Help
Entry
10516             CDS       T01001                                 

Gene name
FBLN5, ADCL2, ARCL1A, ARMD3, DANCE, EVEC, FIBL-5, HNARMD, UP50
Definition
(RefSeq) fibulin 5
  KO
K17340  fibulin 5
Organism
hsa  Homo sapiens (human)
Disease
H00557  Cutis laxa
H00821  Age-related macular degeneration
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    10516 (FBLN5)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EGF_CA cEGF FXa_inhibition EGF_3 hEGF EGF Plasmod_Pvs28
Motif
Other DBs
NCBI-GeneID: 10516
NCBI-ProteinID: NP_006320
OMIM: 604580
HGNC: 3602
Ensembl: ENSG00000140092
Vega: OTTHUMG00000171122
Pharos: Q9UBX5(Tbio)
UniProt: Q9UBX5 A0A024R6G3
Position
14q32.12
AA seq 448 aa AA seqDB search
MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCV
NQNGGYLCIPRTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMD
ESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQL
CANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE
DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCN
LQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRS
VPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDL
EMITVNTVINFRGSSVIRLRIYVSQYPF
NT seq 1347 nt NT seq  +upstreamnt  +downstreamnt
atgccaggaataaaaaggatactcactgttaccattctggctctctgtcttccaagccct
gggaatgcacaggcacagtgcacgaatggctttgacctggatcgccagtcaggacagtgt
ttagatattgatgaatgccgaaccatccccgaggcctgccgaggagacatgatgtgtgtt
aaccaaaatggcgggtatttatgcattccccggacaaaccctgtgtatcgagggccctac
tcgaacccctactcgaccccctactcaggtccgtacccagcagctgccccaccactctca
gctccaaactatcccacgatctccaggcctcttatatgccgctttggataccagatggat
gaaagcaaccaatgtgtggatgtggacgagtgtgcaacagattcccaccagtgcaacccc
acccagatctgcatcaatactgaaggcgggtacacctgctcctgcaccgacggatattgg
cttctggaaggccagtgcttagacattgatgaatgtcgctatggttactgccagcagctc
tgtgcgaatgttcctggatcctattcttgtacatgcaaccctggttttaccctcaatgag
gatggaaggtcttgccaagatgtgaacgagtgtgccaccgagaacccctgcgtgcaaacc
tgcgtcaacacctacggctctttcatctgccgctgtgacccaggatatgaacttgaggaa
gatggcgttcattgcagtgatatggacgagtgcagcttctctgagttcctctgccaacat
gagtgtgtgaaccagcccggcacatacttctgctcctgccctccaggctacatcctgctg
gatgacaaccgaagctgccaagacatcaacgaatgtgagcacaggaaccacacgtgcaac
ctgcagcagacgtgctacaatttacaagggggcttcaaatgcattgaccccatccgctgt
gaggagccttatctgaggatcagtgataaccgctgtatgtgtcctgctgagaaccctggc
tgcagagaccagccctttaccatcttgtaccgggacatggacgtggtgtcaggacgctcc
gttcccgctgacatcttccaaatgcaagccacgacccgctaccctggggcctattacatt
ttccagatcaaatctgggaatgagggcagagaattttacatgcggcaaacgggccccatc
agtgccaccctggtgatgacacgccccatcaaagggccccgggaaatccagctggacttg
gaaatgatcactgtcaacactgtcatcaacttcagaggcagctccgtgatccgactgcgg
atatatgtgtcgcagtacccattctga

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