Homo sapiens (human): 85021
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Entry
85021 CDS
T01001
Symbol
REPS1, NBIA7, RALBP1
Name
(RefSeq) RALBP1 associated Eps domain containing 1
KO
K20068
RalBP1-associated Eps domain-containing protein
Organism
hsa
Homo sapiens (human)
Disease
H00833
Neurodegeneration with brain iron accumulation
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
85021 (REPS1)
Membrane trafficking [BR:
hsa04131
]
Endocytosis
Clathrin-mediated endocytosis
Others
85021 (REPS1)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
EH
EF-hand_1
EF-hand_7
EF-hand_8
EF-hand_6
Motif
Other DBs
NCBI-GeneID:
85021
NCBI-ProteinID:
NP_001273540
OMIM:
614825
HGNC:
15578
Ensembl:
ENSG00000135597
UniProt:
Q96D71
B2R7D3
LinkDB
All DBs
Position
6:complement(138903493..138988253)
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AA seq
796 aa
AA seq
DB search
MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATR
LGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDS
ENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRK
HSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTS
TLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDL
NGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLP
EKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQ
WETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNP
TSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQIGSNVTRQRSHSGTS
PDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPA
VHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEK
ASDPASSLRVAKTDSKTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEH
TQKTGVLAAVLASQPSIPRSVGKDKKAIQASIRRNKETNTVLARLNSELQQQLKDVLEER
ISLEVQLEQLRPFSHL
NT seq
2391 nt
NT seq
+upstream
nt +downstream
nt
atggaaggcttaacgctgagcgatgcggagcagaaatactattcagatctcttctcctac
tgcgacattgagagcaccaagaaggtggtggtcaacgggcgggtgctggagctgttccgg
gccgcgcagctgccgaacgacgtggtcctacagatcatggagctttgtggtgcaacaaga
cttggttattttggaagaagtcagttctacattgctttgaaacttgtagctgttgcccag
tctggtttccctttaagagtggaaagtataaatacagtaaaggaccttcctctgccaaga
tttgttgcttcaaagaatgaacaggaatctcgccatgcagcctcatattcttcagattct
gaaaatcaagggtcgtattctggtgtaattcccccaccacctggcagggggcaagtgaaa
aagggatccgtaagccatgatacggttcagcctcgtacatctgcagatgcacaggaacct
gcatccccagtagtttcaccacagcaatccccaccaacttctccacacacatggaggaag
cacagccgtcatcccagcggtgggaatagtgagaggcctctcgcgggacctgggccattt
tggtctccctttggtgaagcacaatcaggttcttctgctggtgatgcagtgtggtcaggg
cattccccacctccacctcaagaaaactgggtcagttttgcagatactccaccaaccagt
actcttttaaccatgcatcctgcttctgtccaggaccagacaacagtacgaactgtagca
tcagctacaactgccattgaaattcgtaggcaatccagtagttatgatgatccctggaaa
ataacagatgaacaaagacagtattatgtaaatcagtttaaaaccattcagcctgatcta
aacggatttattccaggatctgcagctaaagagttttttacaaaatcaaaacttcctatt
cttgaactttctcatatttgggaactctcagactttgataaagatggtgcattgacactg
gatgagttttgtgctgcttttcatctggtggttgctaggaagaatggctatgatttacca
gaaaaacttcctgaaagcttaatgcccaaactgattgatttggaagattcagcagatgtt
ggggatcagccaggtgaggtaggttattcaggctctcctgctgaagctcctccaagcaag
tcaccatcgatgccatcactaaaccagacatggcctgagctgaatcagagcagtgagcag
tgggagacatttagtgaacgctcttcaagctcacaaactctgacccaatttgattctaac
attgcaccagctgatcctgatactgctattgttcatccagttcccattcgtatgactcca
agcaaaatccacatgcaggaaatggaacttaaaagaactggcagcgatcatacaaatccc
actagcccattacttgtgaaaccatctgaccttttagaagaaaataagataaattcatcg
gtgaaattcgcttctggtaatactgtagcagatggttacagtagttcagactcttttact
tctgacccagaacagatcgggagcaatgtaactcgtcaaaggtctcattcaggaacgtcg
cctgataacactgcaccaccacctccccctccaaggccacagccctctcattctagatca
tcatctttagatatgaatcggacctttacagtcaccacaggacaacaacaggctggagtt
gttgcccatcctcctgcagtgcctccaagaccacagccctcacaggctcctggtcctgct
gtgcatcgcccagtggatgccgatggcctcataactcacactagtacctcacctcagcag
ataccagagcaaccaaattttgcagatttcagtcagtttgaagtatttgctgcatcaaat
gtaaacgacgaacaagatgatgaagccgagaaacatccagaagtcctgccggctgaaaaa
gcttctgatcctgcaagttctcttcgagttgccaaaacagatagtaaaactgaagaaaag
acagctgctagtgctcctgccaatgtgagcaaaggcacaacaccacttgctccaccacct
aaacctgttcgaagaagattaaaatcagaagatgaattaaggccagaagttgatgaacat
acacaaaagacgggtgtcttagctgctgttcttgcatcacaaccttctattcccagatct
gttgggaaagataagaaagctattcaggcatcaattagacgtaataaggaaaccaacacc
gttttggccagattgaatagcgaattgcagcaacaattaaaggatgttcttgaggagaga
atttccctggaagttcaactggaacaacttcgaccattctctcacctataa
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