KEGG   Homo sapiens (human): 3078
Entry
3078              CDS       T01001                                 

Gene name
CFHR1, CFHL, CFHL1, CFHL1P, CFHR1P, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2
Definition
(RefSeq) complement factor H related 1
  KO
K23815  complement factor H-related protein 1/2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04610  Complement and coagulation cascades
Disease
H00821  Age-related macular degeneration
H01434  Atypical hemolytic uremic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04610 Complement and coagulation cascades
    3078 (CFHR1)
SSDB
Motif
Pfam: Sushi Sushi_2 DUF1962
Other DBs
NCBI-GeneID: 3078
NCBI-ProteinID: NP_002104
OMIM: 134371
HGNC: 4888
Ensembl: ENSG00000244414
Vega: OTTHUMG00000036276
Pharos: Q03591(Tbio)
UniProt: Q03591
LinkDB
Structure
PDB: 
3ZD2 3RJ3 4MUC 5WTB

Position
1q31.3
AA seq 330 aa
MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFV
SPSKSFWTRITCTEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRL
QNNENNISCVERGWSTPPKCRSTDTSCVNPPTVQNAHILSRQMSKYPSGERVRYECRSPY
EMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLSVYAPASSVEYQCQNL
YQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYLRTGESAEFVC
KRGYRLSSRSHTLRTTCWDGKLEYPTCAKR
NT seq 993 nt   +upstreamnt  +downstreamnt
atgtggctcctggtcagtgtaattctaatctcacggatatcctctgttgggggagaagca
acattttgtgattttccaaaaataaaccatggaattctatatgatgaagaaaaatataag
ccattttcccaggttcctacaggggaagttttctattactcctgtgaatataattttgtg
tctccttcaaaatcattttggactcgcataacatgcacagaagaaggatggtcaccaaca
ccaaagtgtctcagactgtgtttctttccttttgtggaaaatggtcattctgaatcttca
ggacaaacacatctggaaggtgatactgtgcaaattatttgcaacacaggatacagactt
caaaacaatgagaacaacatttcatgtgtagaacggggctggtccacccctcccaaatgc
aggtccactgacacttcctgtgtgaatccgcccacagtacaaaatgctcatatactgtcg
agacagatgagtaaatatccatctggtgagagagtacgttatgaatgtaggagcccttat
gaaatgtttggggatgaagaagtgatgtgtttaaatggaaactggacagaaccacctcaa
tgcaaagattctacgggaaaatgtgggccccctccacctattgacaatggggacattact
tcattcccgttgtcagtatatgctccagcttcatcagttgagtaccaatgccagaacttg
tatcaacttgagggtaacaagcgaataacatgtagaaatggacaatggtcagaaccacca
aaatgcttacatccgtgtgtaatatcccgagaaattatggaaaattataacatagcatta
aggtggacagccaaacagaagctttatttgagaacaggtgaatcagctgaatttgtgtgt
aaacggggatatcgtctttcatcacgttctcacacattgcgaacaacatgttgggatggg
aaactggagtatccaacttgtgcaaaaagatag

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