KEGG   Homo sapiens (human): 54499
Entry
54499             CDS       T01001                                 
Symbol
TMCO1, CFSMR1, HP10122, PCIA3, PNAS-136, TMCC4
Name
(RefSeq) transmembrane and coiled-coil domains 1
  KO
K21891  calcium load-activated calcium channel
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]
    54499 (TMCO1)
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    54499 (TMCO1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Multi-pass translocon (MPT) complex
    54499 (TMCO1)
Transporters [BR:hsa02000]
 Other transporters
  Pores ion channels [TC:1]
   54499 (TMCO1)
SSDB
Motif
Pfam: EMC3_TMCO1 DUF5683 DUF6809 Vpu Exonuc_VII_L ArsP_1 Nucleoside_tran DivIC Peptidase_S49_N SLC52_ribofla_tr DUF4257 Folate_carrier
Other DBs
NCBI-GeneID: 54499
NCBI-ProteinID: NP_061899
OMIM: 614123
HGNC: 18188
Ensembl: ENSG00000143183
UniProt: Q9UM00
Structure
Position
1:complement(165724291..165768922)
AA seq 188 aa
MSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITES
AGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFT
PLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQKILGLAPSRAATKQAGGFLGP
PPPSGKFS
NT seq 567 nt   +upstreamnt  +downstreamnt
atgagcactatgttcgcggacactctcctcatcgtttttatctctgtgtgcacggctctg
ctcgcagagggcataacctgggtcctggtttacaggacagacaagtacaagagactgaag
gcagaagtggaaaaacagagtaaaaaattggaaaagaagaaggaaacaataacagagtca
gctggtcgacaacagaaaaagaaaatagagagacaagaagagaaactgaagaataacaac
agagatctatcaatggttcgaatgaaatccatgtttgctattggcttttgttttactgcc
ctaatgggaatgttcaattccatatttgatggtagagtggtggcaaagcttccttttacc
cctctttcttacatccaaggactgtctcatcgaaatctgctgggagatgacaccacagac
tgttccttcattttcctgtatattctctgtactatgtcgattcgacagaacattcagaag
attctcggccttgccccttcacgagccgccaccaagcaggcaggtggatttcttggccca
ccacctccttctgggaagttctcttga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (37)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (14)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (33)   
   RefSeq(nuc) (5)   
   GenBank (14)   
   EMBL (14)   
3D Structure (1)   
   PDB (1)   
Protein domain (12)   
   Pfam (12)   
All databases (95)   

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