KEGG   Homo sapiens (human): 10516
Entry
10516             CDS       T01001                                 
Symbol
FBLN5, ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD, UP50
Name
(RefSeq) fibulin 5
  KO
K17340  fibulin 5
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
H00557  Cutis laxa
H00821  Age-related macular degeneration
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]
    10516 (FBLN5)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 EGF-like domain-containing proteins
  hEGF / cEGF domain-containing proteins
   10516 (FBLN5)
SSDB
Motif
Pfam: EGF_CA cEGF FXa_inhibition EGF_3 hEGF Plasmod_Pvs28 EGF
Other DBs
NCBI-GeneID: 10516
NCBI-ProteinID: NP_006320
OMIM: 604580
HGNC: 3602
Ensembl: ENSG00000140092
UniProt: Q9UBX5 A0A024R6G3
Position
14:complement(91869411..91947694)
AA seq 448 aa
MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCV
NQNGGYLCIPRTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMD
ESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQL
CANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCVQTCVNTYGSFICRCDPGYELEE
DGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILLDDNRSCQDINECEHRNHTCN
LQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILYRDMDVVSGRS
VPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDL
EMITVNTVINFRGSSVIRLRIYVSQYPF
NT seq 1347 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (46)   
   RefSeq(nuc) (8)   
   GenBank (19)   
   EMBL (19)   
Protein domain (7)   
   Pfam (7)   
All databases (91)   

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