KEGG   Homo sapiens (human): 85021
Entry
85021             CDS       T01001                                 

Gene name
REPS1, NBIA7, RALBP1
Definition
(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)
SSDB
Motif
Pfam: EF-hand_4 EF-hand_1 EF-hand_7 EF-hand_8 EF-hand_6
Other DBs
NCBI-GeneID: 85021
NCBI-ProteinID: NP_001273540
OMIM: 614825
HGNC: 15578
Ensembl: ENSG00000135597
Vega: OTTHUMG00000015685
Pharos: Q96D71(Tbio)
UniProt: Q96D71 B2R7D3
Position
6q24.1
AA seq 796 aa
MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATR
LGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDS
ENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRK
HSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTS
TLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDL
NGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLP
EKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQ
WETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNP
TSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQIGSNVTRQRSHSGTS
PDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPA
VHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEK
ASDPASSLRVAKTDSKTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEH
TQKTGVLAAVLASQPSIPRSVGKDKKAIQASIRRNKETNTVLARLNSELQQQLKDVLEER
ISLEVQLEQLRPFSHL
NT seq 2391 nt   +upstreamnt  +downstreamnt
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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