KEGG   Homo sapiens (human): 5119Help
Entry
5119              CDS       T01001                                 

Gene name
CHMP1A, CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A
Definition
(RefSeq) charged multivesicular body protein 1A
  KO
K12197  charged multivesicular body protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
hsa04217  Necroptosis
Disease
H00897  Pontocerebellar hypoplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    5119 (CHMP1A)
  09143 Cell growth and death
   04217 Necroptosis
    5119 (CHMP1A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5119 (CHMP1A)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    5119 (CHMP1A)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Endosomal sorting complexes required for transport (ESCRT)
   ESCRT-III complex
    5119 (CHMP1A)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   5119 (CHMP1A)
  Exosomal proteins of other body fluids (saliva and urine)
   5119 (CHMP1A)
  Exosomal proteins of colorectal cancer cells
   5119 (CHMP1A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Snf7 MS_channel Ist1 DMSP_lyase
Motif
Other DBs
NCBI-GeneID: 5119
NCBI-ProteinID: NP_002759
OMIM: 164010
HGNC: 8740
Ensembl: ENSG00000131165
Vega: OTTHUMG00000169521
Pharos: Q9HD42(Tbio)
UniProt: Q9HD42
LinkDB All DBs
Position
16q24.3
AA seq 196 aa AA seqDB search
MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGV
NWLRMASRVDAVASKVQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQ
NLDVHTSVMEDSMSSATTLTTPQEQVDSLIMQIAEENGLEVLDQLSQLPEGASAVGESSV
RSQEDQLSRRLAALRN
NT seq 591 nt NT seq  +upstreamnt  +downstreamnt
atggacgataccctgttccagttgaagttcacggcgaagcagctggagaagctggccaag
aaggcggagaaggactccaaggcggagcaggccaaagtgaagaaggcccttctgcagaaa
aatgtagagtgtgcccgtgtgtatgccgagaacgccatccgcaagaagaacgaaggtgtg
aactggcttcggatggcgtcccgcgtagacgcagtggcctccaaggtgcagacagctgtg
actatgaagggggtgaccaagaatatggcccaggtgaccaaagccctggacaaggccctg
agcaccatggacctgcagaaggtctcctcagtgatggacaggttcgagcagcaggtgcag
aacctggacgtccatacatcggtgatggaggactccatgagctcggccaccaccctgacc
acgccgcaggagcaggtggacagcctcatcatgcagatcgccgaggagaatggcctggag
gtgctggaccagctcagccagctgcccgagggcgcctctgccgtgggcgagagctctgtg
cgcagccaggaggaccagctgtcacggaggttggccgccttgaggaactag

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