KEGG   Homo sapiens (human): 28962
Entry
28962             CDS       T01001                                 
Symbol
OSTM1, GIPN, GL, HSPC019, OPTB5
Name
(RefSeq) osteoclastogenesis associated transmembrane protein 1
  KO
K23863  osteopetrosis-associated transmembrane protein 1 (chloride channel 7 beta subunit)
Organism
hsa  Homo sapiens (human)
Disease
H00436  Osteopetrosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    28962 (OSTM1)
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    28962 (OSTM1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Others
   Others
    28962 (OSTM1)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   28962 (OSTM1)
SSDB
Motif
Pfam: OSTMP1 Crust_neurohorm zf-C4pol
Other DBs
NCBI-GeneID: 28962
NCBI-ProteinID: NP_054747
OMIM: 607649
HGNC: 21652
Ensembl: ENSG00000081087
UniProt: Q86WC4
Structure
Position
6:complement(108041409..108074741)
AA seq 334 aa
MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSL
SLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQ
QVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSE
ELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQK
MNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFY
LSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN
NT seq 1005 nt   +upstreamnt  +downstreamnt
atggagccgggcccgacagccgcgcagcggaggtgttcgttgccgccgtggctgccgctg
gggctgctgctgtggtcggggctggccctgggcgcgctccccttcggcagcagtccgcac
agggtcttccacgacctcctgtcggagcagcagttgctggaggtggaggacttgtccctg
tccctcctgcagggtggagggctggggcctctgtcgctgcccccggacctgccggatctg
gatcctgagtgccgggagctcctgctggacttcgccaacagcagcgcagagctgacaggg
tgtctggtgcgcagcgcccggcccgtgcgcctctgtcagacctgctaccccctcttccaa
caggtcgtcagcaagatggacaacatcagccgagccgcggggaatacttcagagagtcag
agttgtgccagaagtctcttaatggcagatagaatgcaaatagttgtgattctctcagaa
ttttttaataccacatggcaggaggcaaattgtgcaaattgtttaacaaacaacagtgaa
gaattatcaaacagcacagtatatttccttaatctatttaatcacaccctgacctgcttt
gaacataaccttcaggggaatgcacatagtcttttacagacaaaaaattattcagaagta
tgcaaaaactgccgtgaagcatacaaaactctgagtagtctgtacagtgaaatgcaaaaa
atgaatgaacttgagaataaggctgaacctggaacacatttatgcattgatgtggaagat
gcaatgaacatcactcgaaaactatggagtcgaactttcaactgttcagtcccttgcagt
gacacagtgcctgtaattgctgtttctgtgttcattctctttctacctgttgtcttctac
cttagtagctttcttcactcagagcaaaagaaacgcaaactcattctgcccaaacgtctc
aagtccagtaccagttttgcaaatattcaggaaaattcaaactga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (13)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (41)   
   RefSeq(nuc) (5)   
   GenBank (18)   
   EMBL (18)   
3D Structure (5)   
   PDB (5)   
Protein domain (3)   
   Pfam (3)   
All databases (86)   

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