KEGG   Homo sapiens (human): 78987
Entry
78987             CDS       T01001                                 
Symbol
CRELD1, AVSD2, CIRRIN
Name
(RefSeq) cysteine rich with EGF like domains 1
  KO
K24335  protein disulfide-isomerase [EC:5.3.4.1]
Organism
hsa  Homo sapiens (human)
Disease
H00547  Atrioventricular septal defect
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03110 Chaperones and folding catalysts [BR:hsa03110]
    78987 (CRELD1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.3  Intramolecular oxidoreductases
   5.3.4  Transposing S-S bonds
    5.3.4.1  protein disulfide-isomerase
     78987 (CRELD1)
Chaperones and folding catalysts [BR:hsa03110]
 Protein folding catalysts
  Protein disulfide isomerase
   78987 (CRELD1)
SSDB
Motif
Pfam: DUF3456 EGF_CA cEGF EGF_3 EGF FXa_inhibition Laminin_EGF hEGF
Other DBs
NCBI-GeneID: 78987
NCBI-ProteinID: NP_001070883
OMIM: 607170
HGNC: 14630
Ensembl: ENSG00000163703
UniProt: Q96HD1
Position
3:9933834..9945406
AA seq 420 aa
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGL
ERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWW
FHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTERPCGGYGQCEGEGTRGGSGH
CDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVG
SKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPESAGFFSEMTE
DELVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR
NT seq 1263 nt   +upstreamnt  +downstreamnt
atggccccatggcccccgaagggcctagtcccagctatgctctggggcctcagcctcttc
ctcaacctcccaggacctatctggctccagccctctccacctccccagtcttctcccccg
cctcagccccatccgtgtcatacctgccggggactggttgacagctttaacaagggcctg
gagagaaccatccgggacaactttggaggtggaaacactgcctgggaggaagagaatttg
tccaaatacaaagacagtgagacccgcctggtagaggtgctggagggtgtgtgcagcaag
tcagacttcgagtgccaccgcctgctggagctgagtgaggagctggtggagagctggtgg
tttcacaagcagcaggaggccccggacctcttccagtggctgtgctcagattccctgaag
ctctgctgccccgcaggcaccttcgggccctcctgccttccctgtcctgggggaacagag
aggccctgcggtggctacgggcagtgtgaaggagaagggacacgagggggcagcgggcac
tgtgactgccaagccggctacgggggtgaggcctgtggccagtgtggccttggctacttt
gaggcagaacgcaacgccagccatctggtatgttcggcttgttttggcccctgtgcccga
tgctcaggacctgaggaatcaaactgtttgcaatgcaagaagggctgggccctgcatcac
ctcaagtgtgtagacattgatgagtgtggcacagagggagccaactgtggagctgaccaa
ttctgcgtgaacactgagggctcctatgagtgccgagactgtgccaaggcctgcctaggc
tgcatgggggcagggccaggtcgctgtaagaagtgtagccctggctatcagcaggtgggc
tccaagtgtctcgatgtggatgagtgtgagacagaggtgtgtccgggagagaacaagcag
tgtgaaaacaccgagggcggttatcgctgcatctgtgccgagggctacaagcagatggaa
ggcatctgtgtgaaggagcagatcccagagtcagcaggcttcttctcagagatgacagaa
gacgagttggtggtgctgcagcagatgttctttggcatcatcatctgtgcactggccacg
ctggctgctaagggcgacttggtgttcaccgccatcttcattggggctgtggcggccatg
actggctactggttgtcagagcgcagtgaccgtgtgctggagggcttcatcaagggcaga
taa

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Ontology (3)   
   KEGG BRITE (3)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (19)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (17)   
DNA sequence (44)   
   RefSeq(nuc) (20)   
   GenBank (12)   
   EMBL (12)   
Protein domain (8)   
   Pfam (8)   
All databases (99)   

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