KEGG   Homo sapiens (human): 1121
Entry
1121              CDS       T01001                                 

Gene name
CHM, DXS540, GGTA, HSD-32, REP-1, TCD
Definition
(RefSeq) CHM Rab escort protein
  KO
K23460  Rab proteins geranylgeranyltransferase component A
Organism
hsa  Homo sapiens (human)
Disease
H01116  Choroideremia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01006 Prenyltransferases [BR:hsa01006]
    1121 (CHM)
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1121 (CHM)
Prenyltransferases [BR:hsa01006]
 Protein prenylation
  Rab geranylgeranyltransferase
   1121 (CHM)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    1121 (CHM)
 Endosome - Lysosome transport
  Rab GTPases and associated proteins
    1121 (CHM)
SSDB
Motif
Pfam: GDI NAD_binding_8 FAD_oxidored FAD_binding_2
Other DBs
NCBI-GeneID: 1121
NCBI-ProteinID: NP_000381
OMIM: 300390
HGNC: 1940
Ensembl: ENSG00000188419
Vega: OTTHUMG00000021937
Pharos: P24386(Tbio)
UniProt: P24386 A8K545
Position
Xq21.2
AA seq 653 aa
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLK
EYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQK
NHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKEN
HCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRG
LLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLT
FCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKN
FLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAII
DQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAE
EPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQ
VEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICP
NEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFKESTNLGNLEESSE
NT seq 1962 nt   +upstreamnt  +downstreamnt
atggcggatactctcccttcggagtttgatgtgatcgtaatagggacgggtttgcctgaa
tccatcattgcagctgcatgttcaagaagtggccggagagttctgcatgttgattcaaga
agctactatggaggaaactgggccagttttagcttttcaggactattgtcctggctaaag
gaataccaggaaaacagtgacattgtaagtgacagtccagtgtggcaagaccagatcctt
gaaaatgaagaagccattgctcttagcaggaaggacaaaactattcaacatgtggaagta
ttttgttatgccagtcaggatttgcatgaagatgtcgaagaagctggtgcactgcagaaa
aatcatgctcttgtgacatctgcaaactccacagaagctgcagattctgccttcctgcct
acggaggatgagtcattaagcactatgagctgtgaaatgctcacagaacaaactccaagc
agcgatccagagaatgcgctagaagtaaatggtgctgaagtgacaggggaaaaagaaaac
cattgtgatgataaaacttgtgtgccatcaacttcagcagaagacatgagtgaaaatgtg
cctatagcagaagataccacagagcaaccaaagaaaaacagaattacttactcacaaatt
attaaagaaggcaggagatttaatattgatttagtatcaaagctgctgtattctcgagga
ttactaattgatcttctaatcaaatctaatgttagtcgatatgcagagtttaaaaatatt
accaggattcttgcatttcgagaaggacgagtggaacaggttccgtgttccagagcagat
gtctttaatagcaaacaacttactatggtagaaaagcgaatgctaatgaaatttcttaca
ttttgtatggaatatgagaaatatcctgatgaatataaaggatatgaagagatcacattt
tatgaatatttaaagactcaaaaattaacccccaacctccaatatattgtcatgcattca
attgcaatgacatcagagacagccagcagcaccatagatggtctcaaagctaccaaaaac
tttcttcactgtcttgggcggtatggcaacactccatttttgtttcctttatatggccaa
ggagaactcccccagtgtttctgcaggatgtgtgctgtgtttggtggaatttattgtctt
cgccattcagtacagtgccttgtagtggacaaagaatccagaaaatgtaaagcaattata
gatcagtttggtcagagaataatctctgagcatttcctcgtggaggacagttactttcct
gagaacatgtgctcacgtgtgcaatacaggcagatctccagggcagtgctgattacagat
agatctgtcctaaaaacagattcagatcaacagatttccattttgacagtgccagcagag
gaaccaggaacttttgctgttcgggtcattgagttatgttcttcaacgatgacatgcatg
aaaggcacctatttggttcatttgacttgcacatcttctaaaacagcaagagaagattta
gaatcagttgtgcagaaattgtttgttccatatactgaaatggagatagaaaatgaacaa
gtagaaaagccaagaattctgtgggctctttacttcaatatgagagattcgtcagacatc
agcaggagctgttataatgatttaccatccaacgtttatgtctgctctggcccagattgt
ggtttaggaaatgataatgcagtcaaacaggctgaaacacttttccaggaaatctgcccc
aatgaagatttctgtccccctccaccaaatcctgaagacattatccttgatggagacagt
ttacagccagaggcttcagaatccagtgccataccagaggctaactcggagactttcaag
gaaagcacaaaccttggaaacctagaggagtcctctgaataa

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (48)   
   RefSeq(nuc) (10)   
   GenBank (19)   
   EMBL (19)   
Protein domain (4)   
   Pfam (4)   
All databases (87)   

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