CRELD1
entrez
78987
canonical
uniprot
Q96HD1
canonical
ensembl
ENSG00000163703
resolver
ensp
ENSP00000321856
resolver
ensp
ENSP00000373322
resolver
ensp
ENSP00000393643
resolver
ensp
ENSP00000500961
resolver
ensp
ENSP00000500985
resolver
ensp
ENSP00000501208
resolver
ensp
ENSP00000506906
resolver
ensp
ENSP00000506927
resolver
ensp
ENSP00000507076
resolver
ensp
ENSP00000507114
resolver
ensp
ENSP00000507127
resolver
ensp
ENSP00000507251
resolver
ensp
ENSP00000507258
resolver
ensp
ENSP00000507522
resolver
ensp
ENSP00000507737
resolver
ensp
ENSP00000507906
resolver
ensp
ENSP00000507930
resolver
ensp
ENSP00000508016
resolver
ensp
ENSP00000508218
resolver
ensp
ENSP00000561788
resolver
ensp
ENSP00000561793
resolver
ensp
ENSP00000622451
resolver
ensp
ENSP00000657831
resolver
ensp
ENSP00000657834
resolver
ensp
ENSP00000657836
resolver
ensp
ENSP00000657838
resolver
ensp
ENSP00000726260
resolver
enst
ENST00000673677
resolver
enst
ENST00000673737
resolver
enst
ENST00000673935
resolver
enst
ENST00000682642
resolver
enst
ENST00000682771
resolver
enst
ENST00000682929
resolver
enst
ENST00000683127
resolver
enst
ENST00000683316
resolver
enst
ENST00000683547
resolver
enst
ENST00000683601
resolver
enst
ENST00000683603
resolver
enst
ENST00000683970
resolver
enst
ENST00000684181
resolver
enst
ENST00000684291
resolver
enst
ENST00000684613
resolver
enst
ENST00000891727
resolver
enst
ENST00000891734
resolver
enst
ENST00000952392
resolver
genesymbol
CRELD1
resolver
genesymbol_syn
CIRRIN
resolver
hgnc
HGNC:14630
resolver
uniprot
A0A669KAV0
resolver
uniprot
A0A669KAV2
resolver
uniprot
A0A669KBB3
resolver
uniprot
A0A804HJJ0
resolver
uniprot
A0A804HKP7
resolver
uniprot
A8MX90
resolver
uniprot
B2RAA9
resolver
uniprot
Q6I9X5
resolver
uniprot
Q8NFT4
resolver
uniprot
Q9Y409
resolver
uniprot_entry
A0A669KAV0_HUMAN
resolver
uniprot_entry
A0A669KBB3_HUMAN
resolver
uniprot_entry
A0A804HJJ0_HUMAN
resolver
uniprot_entry
A0A804HKP7_HUMAN
resolver
uniprot_entry
CREL1_HUMAN
resolver
uniprot_sec
A0A669KAV2
resolver
uniprot_sec
A8MX90
resolver
uniprot_sec
B2RAA9
resolver
uniprot_sec
Q6I9X5
resolver
uniprot_sec
Q8NFT4
resolver
uniprot_sec
Q9Y409
resolver
amino_acid_sequence
MAPWPPKGLVPAMLWGLSLFLNLPGPIWLQPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENLSKYKDSETRLVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFGPSCLPCPGGTERPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHLVCSACFGPCARCSGPEESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIPESAGFFSEMTEDELVVLQQMFFGIIICALATLAAKGDLVFTAIFIGAVAAMTGYWLSERSDRVLEGFIKGR
uniprot
proteins
disease_involvement
DISEASE: Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269|PubMed:12632326, ECO:0000269|PubMed:15857420}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Jeffries-Lakhani neurodevelopmental syndrome (JELANS) [MIM:620771]: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, early-onset epilepsy, and hypotonia apparent from infancy. Clinical features include motor delay, speech delay, and impaired intellectual development. About half of patients are non-ambulatory and/or non-verbal. Some patients have cardiac rhythm disturbances, and some experience recurrent infections. Premature death due to cardiac arrhythmia or epilepsy may occur. {ECO:0000269|PubMed:37947183}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.3.4.1
uniprot
proteins
function
FUNCTION: Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity). {ECO:0000250|UniProtKB:Q91XD7, ECO:0000250|UniProtKB:Q9CYA0}.
uniprot
proteins
mass_dalton
45440
uniprot
proteins
protein_family
CRELD family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12137942
uniprot
proteins
pubmed
12632326
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15857420
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
23027870
uniprot
proteins
pubmed
37947183
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 363..383; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 385..405; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins