KEGG   Homo sapiens (human): 55969
Entry
55969             CDS       T01001                                 
Symbol
RAB5IF, C20orf24, CFSMR2, OPTI, PNAS-11, RCAF1, RIP5
Name
(RefSeq) RAB5 interacting factor
  KO
K26496  GEL complex subunit OPTI
Organism
hsa  Homo sapiens (human)
Disease
H02415  Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55969 (RAB5IF)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Rab GTPases and associated proteins
   Rab associated proteins
    55969 (RAB5IF)
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Multi-pass translocon (MPT) complex
    55969 (RAB5IF)
SSDB
Motif
Pfam: EMC6 DUF2244 Pox_polyA_pol_C
Other DBs
NCBI-GeneID: 55969
NCBI-ProteinID: NP_001186463
OMIM: 619960
HGNC: 15870
Ensembl: ENSG00000101084
UniProt: Q9BUV8
Position
20:36605779..36612557
AA seq 137 aa
MSGGRRKEEPPQPQLANGALKVSVWSKVLRSDAAWEDKDEFLDVIYWFRQIIAVVLGVIW
GVLPLRGFLGIAGFCLINAGVLYLYFSNYLQIDEEEYGGTWELTKEGFMTSFALFMVCVA
DSFTTGHLDHLLHCHPL
NT seq 414 nt   +upstreamnt  +downstreamnt
atgagcggcgggcggcggaaggaggagccgcctcagccgcagctggccaacggggccctc
aaagtctccgtctggagtaaggtgctgcggagcgacgcggcctgggaggataaggatgaa
tttttagatgtgatctactggttccgacagatcattgctgtggtcctgggtgtcatttgg
ggagttttgccattacgagggttcttgggaatagcaggattctgcctgatcaatgcagga
gtcctgtacctctacttcagcaattacctacagattgatgaggaagaatatggtggcacg
tgggagctcacgaaggaagggtttatgacctcttttgccttgttcatggtatgtgtagct
gatagttttacaacaggtcatttggatcatcttttacactgccatccattatga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (37)   
   RefSeq(nuc) (9)   
   GenBank (14)   
   EMBL (14)   
Protein domain (3)   
   Pfam (3)   
All databases (66)   

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