KEGG   Homo sapiens (human): 2055
Entry
2055              CDS       T01001                                 
Symbol
CLN8, C8orf61, EPMR, TLCD6
Name
(RefSeq) CLN8 transmembrane ER and ERGIC protein
  KO
K12360  ceroid-lipofuscinosis neuronal protein 8
Organism
hsa  Homo sapiens (human)
Disease
H00149  Neuronal ceroid lipofuscinosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2055 (CLN8)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    2055 (CLN8)
SSDB
Motif
Pfam: TRAM_LAG1_CLN8
Other DBs
NCBI-GeneID: 2055
NCBI-ProteinID: NP_061764
OMIM: 607837
HGNC: 2079
Ensembl: ENSG00000182372
UniProt: Q9UBY8
Position
8:1753059..1786570
AA seq 286 aa
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVARE
KVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVA
VHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLL
KAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWHWDGLVSSLYLPHLTLFLVGLAL
LTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP
NT seq 861 nt   +upstreamnt  +downstreamnt
atgaatcctgcgagcgatgggggcacatcagagagcatttttgacctggactatgcatcc
tgggggatccgctccacgctgatggtcgctggctttgtcttctacttgggcgtctttgtg
gtctgccaccagctgtcctcttccctgaatgccacttaccgttctttggtggccagagag
aaggtcttctgggacctggcggccacgcgtgcagtctttggtgttcagagcacagccgca
ggcctgtgggctctgctgggggaccctgtgctgcatgccgacaaggcgcgtggccagcag
aactggtgctggtttcacatcacgacagcaacgggattcttttgctttgaaaatgttgca
gtccacctgtccaacttgatcttccggacatttgacttgtttctggttatccaccatctc
tttgcctttcttgggtttcttggctgcttggtcaatctccaagctggccactatctagct
atgaccacgttgctcctggagatgagcacgccctttacctgcgtttcctggatgctctta
aaggcgggctggtccgagtctctgttttggaagctcaaccagtggctgatgattcacatg
tttcactgccgcatggttctaacctaccacatgtggtgggtgtgtttctggcactgggac
ggcctggtcagcagcctgtatctgcctcatttgacactgttccttgtcggactggctctg
cttacgctaatcattaatccatattggacccataagaagactcagcagcttctcaatccg
gtggactggaacttcgcacagccagaagccaagagcaggccagaaggcaacgggcagctg
ctgcggaagaagaggccatag

  All links  
Disease (3)   
   OMIM (3)   
Gene (16)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (19)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (17)   
DNA sequence (44)   
   RefSeq(nuc) (18)   
   GenBank (13)   
   EMBL (13)   
Protein domain (1)   
   Pfam (1)   
All databases (83)   

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