KEGG   Homo sapiens (human): 26119Help
Entry
26119             CDS       T01001                                 

Gene name
LDLRAP1, ARH, ARH1, ARH2, FHCB1, FHCB2
Definition
(RefSeq) low density lipoprotein receptor adaptor protein 1
  KO
K12474  low density lipoprotein receptor adapter protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
hsa04979  Cholesterol metabolism
Network
nt06320  APOB-LDLR signaling
  Element
N00332  Vesicular uptake of lipoproteins
N00335  Mutation-inactivated LDLRAP1 to vesicular uptake of lipoproteins
Disease
H01918  Familial autosomal recessive hypercholesterolemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    26119 (LDLRAP1)
 09150 Organismal Systems
  09154 Digestive system
   04979 Cholesterol metabolism
    26119 (LDLRAP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    26119 (LDLRAP1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   LDLR adaptor proteins
    26119 (LDLRAP1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PID PID_2 PTB
Motif
Other DBs
NCBI-GeneID: 26119
NCBI-ProteinID: NP_056442
OMIM: 605747
HGNC: 18640
Ensembl: ENSG00000157978
Vega: OTTHUMG00000007386
Pharos: Q5SW96(Tbio)
UniProt: Q5SW96 B3KR97
Position
1p36.11
AA seq 308 aa AA seqDB search
MDALKSAGRALIRSPSLAKQSWGGGGRHRKLPENWTDTRETLLEGMLFSLKYLGMTLVEQ
PKGEELSAAAIKRIVATAKASGKKLQKVTLKVSPRGIILTDNLTNQLIENVSIYRISYCT
ADKMHDKVFAYIAQSQHNQSLECHAFLCTKRKMAQAVTLTVAQAFKVAFEFWQVSKEEKE
KRDKASQEGGDVLGARQDCTPSLKSLVATGNLLDLEETAKAPLSTVSANTTNMDEVPRPQ
ALSGSSVVWELDDGLDEAFSRLAQSRTNPQVLDTGLTAQDMHYAQCLSPVDWDKPDSSGT
EQDDLFSF
NT seq 927 nt NT seq  +upstreamnt  +downstreamnt
atggacgcgctcaagtcggcggggcgggcgctgatccggagccccagcttggccaagcag
agctgggggggcggtggccggcaccgcaagctgcctgagaactggacagacacgcgggag
acgctgctggaggggatgctgttcagcctcaagtacctgggcatgacgctagtggagcag
cccaagggtgaggagctgtcggccgccgccatcaagaggatcgtggctacagctaaggcc
agtgggaagaagctgcagaaggtgactctgaaggtgtcgccacggggaattatcctgaca
gacaacctcaccaaccagctcattgagaacgtgtccatatacaggatctcctattgcaca
gcagacaagatgcacgacaaggtgtttgcatacatcgcccagagccagcacaaccagagc
ctcgagtgccacgccttcctctgcaccaagcggaagatggcacaggctgttaccctcacc
gtagcccaggccttcaaagtcgcctttgagttttggcaggtgtccaaggaagagaaagag
aagagggacaaagccagccaagagggaggggacgtcctgggggcccgccaagactgcacc
ccctccttgaagagcttggtcgccactgggaacctgctggacttagaggagacagctaag
gccccgctgtccacggtcagcgccaacaccaccaacatggacgaggtgccgcggccacaa
gccttgagtggcagcagtgttgtctgggagctggatgatggcctggatgaagcgttttcg
aggcttgcccagtctcggacaaaccctcaggtcctggacactggcctgacagcccaggac
atgcattacgcccagtgcctctcgcctgtcgactgggacaagcctgacagcagcggcaca
gagcaggatgacctcttcagcttctga

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