KEGG   Homo sapiens (human): 54885
Entry
54885             CDS       T01001                                 
Symbol
TBC1D8B, GRAMD8B, NPHS20
Name
(RefSeq) TBC1 domain family member 8B
  KO
K19951  TBC1 domain family member 8/9
Organism
hsa  Homo sapiens (human)
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    54885 (TBC1D8B)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    54885 (TBC1D8B)
 Endosome - Golgi transport
  Rab GTPases and associated proteins
    54885 (TBC1D8B)
SSDB
Motif
Pfam: RabGAP-TBC GRAM RabGap-TBC_2 EF-hand_1
Other DBs
NCBI-GeneID: 54885
NCBI-ProteinID: NP_060222
OMIM: 301027
HGNC: 24715
Ensembl: ENSG00000133138
UniProt: Q0IIM8
Position
X:106802673..106876150
AA seq 1120 aa
MWLKPEEVLLKNALKLWLMERSNDYFVLQRRRGYGEEGGGGLTGLLVGTLDSVLDSTAKV
APFRILHQTPDSQVYLSIACGANREEITKHWDWLEQNIMKTLSVFDSNEDITNFVQGKIR
GLIAEEGKHCFAKEDDPEKFREALLKFEKCFGLPEKEKLVTYYSCSYWKGRVPCQGWLYL
STNFLSFYSFLLGSEIKLIISWDEVSKLEKTSNVILTESIHVCSQGENHYFSMFLHINQT
YLLMEQLANYAIRRLFDKETFDNDPVLYNPLQITKRGLENRAHSEQFNAFFRLPKGESLK
EVHECFLWVPFSHFNTHGKMCISENYICFASQDGNQCSVIIPLREVLAIDKTNDSSKSVI
ISIKGKTAFRFHEVKDFEQLVAKLRLRCGAASTQYHDISTELAISSESTEPSDNFEVQSL
TSQRECSKTVNTEALMTVFHPQNLETLNSKMLKEKMKEQSWKILFAECGRGVSMFRTKKT
RDLVVRGIPETLRGELWMLFSGAVNDMATNPDYYTEVVEQSLGTCNLATEEIERDLRRSL
PEHPAFQSDTGISALRRVLTAYAYRNPKIGYCQAMNILTSVLLLYAKEEEAFWLLVAVCE
RMLPDYFNRRIIGALVDQAVFEELIRDHLPQLTEHMTDMTFFSSVSLSWFLTLFISVLPI
ESAVNVVDCFFYDGIKAILQLGLAILDYNLDKLLTCKDDAEAVTALNRFFDNVTNKDSPL
PSNVQQGSNVSDEKTSHTRVDITDLIRESNEKYGNIRYEDIHSMRCRNRLYVIQTLEETT
KQNVLRVVSQDVKLSLQELDELYVIFKKELFLSCYWCLGCPVLKHHDPSLPYLEQYQIDC
QQFRALYHLLSPWAHSANKDSLALWTFRLLDENSDCLINFKEFSSAIDIMYNGSFTEKLK
LLFKLHIPPAYTEVKSKDASKGDELSKEELLYFSQLHVSKPANEKEAESAKHSPEKGKGK
IDIQAYLSQWQDELFKKEENIKDLPRMNQSQFIQFSKTLYNLFHEDPEEESLYQAIAVVT
SLLLRMEEVGRKLHSPTSSAKGFSGTVCGSGGPSEEKTGSHLEKDPCSFREEPQWSFAFE
QILASLLNEPALVRFFEKPIDVKAKLENARISQLRSRTKM
NT seq 3363 nt   +upstreamnt  +downstreamnt
atgtggctgaagcctgaggaagtgcttctgaaaaatgcgctgaagctgtggctgatggaa
aggtccaacgactacttcgtgctgcagcggcgtcggggctacggggaggaaggcggaggg
gggctcacagggcttctggttgggactcttgattcagtcttggactctactgctaaagta
gctccatttcgcatcctacaccagacaccagattctcaagtttacttgtcaattgcatgt
ggagccaacagagaagaaataaccaagcattgggattggttggaacaaaatattatgaag
accttatctgtatttgattcaaatgaagatattactaattttgtacaaggaaaaataaga
ggattaattgctgaagagggaaaacattgttttgcaaaagaagatgatcctgagaaattt
cgagaagcccttttgaaatttgaaaaatgttttggtttaccagagaaggagaagttagtg
acctattattcatgcagttattggaaaggacgggttccttgtcagggttggctttatctt
agcaccaactttctgagcttctattcttttttgttgggatcagaaataaaactcattatc
tcctgggatgaagtctcaaaacttgaaaagacttcaaatgtcatactgacagagagtatt
cacgtgtgttcccaaggagagaatcactacttttcaatgtttttgcacattaaccaaaca
taccttcttatggaacagctggcaaactatgccattagaagactttttgataaggaaaca
tttgataatgacccagtcctttataatcctctacagatcaccaaaagaggtctggaaaat
agagcccacagtgagcaatttaatgccttttttaggctgcccaaaggagagagtttgaaa
gaagtacatgaatgtttcttatgggtaccattcagccacttcaatactcatgggaaaatg
tgcatctcagaaaattatatctgctttgctagccaagatggcaatcagtgtagtgtaatc
attccactacgagaggtcttagctatagataagacaaatgattccagcaaatctgtcatc
attagcatcaaaggaaaaacagcttttcgcttccatgaagttaaagactttgaacaactg
gtagcaaaactcaggctcagatgcggagcagcttcaactcaatatcatgatattagcaca
gagcttgctattagttctgagtctacagagccatctgataattttgaggtgcaatctttg
acaagtcagagggaatgcagtaaaactgtgaacactgaagccttaatgacagtatttcac
cctcagaatttggagactcttaattctaaaatgttgaaagaaaaaatgaaggaacagtca
tggaaaatactgtttgcagaatgtggacgtggtgttagtatgtttcgaaccaaaaagact
cgagatcttgttgtaagagggattccagaaacattaagaggagaactctggatgcttttt
tcaggtgctgttaatgacatggctactaatcctgactattatactgaagtggttgagcag
tccttagggacctgcaacttggctactgaagaaattgaacgtgatttacgtcgctctctg
cctgagcacccagcctttcagagtgatactggcatatctgctctgagaagggtactcaca
gcttatgcatacaggaatcccaaaattggatactgccaggcaatgaatattttgacttca
gtgctgcttctatatgcaaaagaggaagaagctttttggcttctggttgctgtatgtgaa
cgaatgttgcctgattattttaatcgtcgaattattggtgccttggtggatcaggcagtc
tttgaagaacttatcagggatcaccttcctcagctgacagaacacatgactgatatgaca
ttcttttcctcagtttctctctcttggtttctcacactttttattagtgtgctacctatt
gaaagtgcagtgaatgtggtggactgtttcttctatgatggaataaaggccattttgcaa
ctgggattggcaatacttgactataatttagacaaactgctgacttgtaaagatgatgct
gaagctgtgacagccttaaacaggttctttgacaatgtcactaataaggatagtccattg
ccttcaaatgttcagcaaggttcaaatgtgagtgatgaaaaaaccagtcatactagagtg
gatattacagatttgattagagaatcaaatgagaaatatggtaatattcgctatgaagat
atacatagtatgcgctgtcgaaataggttgtatgtgatacagaccctagaggaaacaaca
aaacagaatgtgttgcgtgttgtatcacaagatgtgaaattgagccttcaagaattggat
gaactttatgtcatctttaagaaagagctgtttttatcttgttattggtgtttgggttgc
ccagtattgaagcatcatgaccccagtctgccatatttggaacagtatcagattgactgc
cagcagttcagagcgttgtatcacttgttgagtccctgggctcattctgcaaataaagac
tcactagctttatggacattcagattgttagatgaaaactctgattgccttataaacttc
aaagaattctcctctgcaattgacataatgtacaatggaagttttactgagaagcttaag
ctgctttttaagctacatattcctccagcttacactgaagtgaaatctaaggatgcttca
aaaggagatgaactttccaaggaagaattactttatttcagtcagctgcatgtttccaag
cctgcaaatgagaaggaagcagaatcagcaaaacacagccctgaaaaaggcaaagggaaa
attgatattcaagcatatctaagtcaatggcaagatgagcttttcaaaaaagaagaaaac
attaaggatttaccaagaatgaatcagtctcagtttattcagttttcaaagaccctctat
aacttatttcatgaggaccctgaagaagaatcattatatcaagccattgctgttgtaacc
agccttttactcaggatggaagaagttggaaggaaactacatagccctacatcatcagcc
aaaggattctctggtactgtctgtggttctggaggacccagtgaggaaaaaacagggagc
cacttggagaaagatccttgttcctttagggaggaacctcagtggtcatttgcatttgaa
cagattcttgcatcgctgttgaatgaaccagcattggtgaggttttttgagaaacccata
gatgtaaaagccaagctggaaaatgcaagaatttctcagttaaggtctagaaccaagatg
taa

  All links  
Disease (2)   
   OMIM (2)   
Gene (10)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (42)   
   RefSeq(nuc) (12)   
   GenBank (15)   
   EMBL (15)   
Protein domain (4)   
   Pfam (4)   
All databases (70)   

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