Homo sapiens (human): 78987
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Entry
78987 CDS
T01001
Symbol
CRELD1, AVSD2, CIRRIN, JELANS
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
H02818
Jeffries-Lakhani neurodevelopmental syndrome
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF3456
EGF_CA
cEGF
EGF_3
EGF
FXa_inhibition
EGF_laminin
hEGF
Motif
Other DBs
NCBI-GeneID:
78987
NCBI-ProteinID:
NP_001070883
OMIM:
607170
HGNC:
14630
Ensembl:
ENSG00000163703
UniProt:
Q96HD1
LinkDB
All DBs
Position
3:9933834..9945406
Genome browser
AA seq
420 aa
AA seq
DB search
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGL
ERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWW
FHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTERPCGGYGQCEGEGTRGGSGH
CDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHH
LKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVG
SKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPESAGFFSEMTE
DELVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR
NT seq
1263 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system
