KEGG   Homo sapiens (human): 1428
Entry
1428              CDS       T01001                                 
Symbol
CRYM, DFNA40, THBP
Name
(RefSeq) crystallin mu
  KO
K18258  thiomorpholine-carboxylate dehydrogenase [EC:1.5.1.25]
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1428 (CRYM)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.5  Acting on the CH-NH group of donors
   1.5.1  With NAD+ or NADP+ as acceptor
    1.5.1.25  thiomorpholine-carboxylate dehydrogenase
     1428 (CRYM)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1428 (CRYM)
SSDB
Motif
Pfam: OCD_Mu_crystall Shikimate_DH NAD_binding_2 F420_oxidored GFO_IDH_MocA OTCace Sacchrp_dh_NADP
Other DBs
NCBI-GeneID: 1428
NCBI-ProteinID: NP_001879
OMIM: 123740
HGNC: 2418
Ensembl: ENSG00000103316
UniProt: Q14894
Structure
Position
16:complement(21258521..21303062)
AA seq 314 aa
MSRVPAFLSAAEVEEHLRSSSLLIPPLETALANFSSGPEGGVMQPVRTVVPVTKHRGYLG
VMPAYSAAEDALTTKLVTFYEDRGITSVVPSHQATVLLFEPSNGTLLAVMDGNVITAKRT
AAVSAIATKFLKPPSSEVLCILGAGVQAYSHYEIFTEQFSFKEVRIWNRTKENAEKFADT
VQGEVRVCSSVQEAVAGADVIITVTLATEPILFGEWVKPGAHINAVGASRPDWRELDDEL
MKEAVLYVDSQEAALKESGDVLLSGAEIFAELGEVIKGVKPAHCEKTTVFKSLGMAVEDT
VAAKLIYDSWSSGK
NT seq 945 nt   +upstreamnt  +downstreamnt
atgagccgggtaccagcgttcctgagcgcggccgaggtggaggaacacctccgcagctcc
agcctcctcatcccgcctctagagacggccctggccaacttctccagcggtcccgaagga
ggggtcatgcagcccgtgcgcaccgtggtgccggtgaccaagcacaggggctacctgggg
gtcatgcccgcctacagtgctgcagaggatgcactgaccaccaagttggtcaccttctac
gaggaccgcggcatcacctcggtcgtcccttcccaccaggctactgtgctactctttgag
cccagcaatggcaccctgctggcggtcatggatggaaatgtcataactgcaaagagaaca
gctgcagtttctgccattgccaccaagtttctgaaacctcccagcagtgaagtgctgtgc
atccttggggctggggtccaggcctacagccattatgagatcttcacagagcagttctcc
tttaaggaggtgaggatatggaaccgcaccaaagaaaatgcagagaagtttgcagacaca
gtgcaaggagaggtacgggtctgttcttcggtccaggaggctgtggcaggtgcagatgtg
atcatcacagtcaccctggcaacagagcccattttgtttggtgaatgggtgaagccaggg
gctcacatcaatgctgttggagccagcagacctgactggagagaactggatgatgagctc
atgaaagaagctgtgctgtacgtggattcccaggaggctgccctgaaggagtctggagat
gtcctgctgtcaggggccgagatctttgctgagctgggagaagtgattaagggagtgaaa
ccagcccactgtgagaagaccaccgtgttcaagtctttgggaatggcagtggaagacaca
gttgcagccaaactcatctatgattcctggtcatctggtaaataa

  All links  
Disease (2)   
   OMIM (2)   
Gene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (21)   
   RefSeq(nuc) (3)   
   GenBank (9)   
   EMBL (9)   
3D Structure (1)   
   PDB (1)   
Protein domain (7)   
   Pfam (7)   
All databases (49)   

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