CCBE1
entrez
147372
canonical
uniprot
Q6UXH8
canonical
ensembl
ENSG00000183287
resolver
ensp
ENSP00000404464
resolver
ensp
ENSP00000497183
resolver
ensp
ENSP00000512259
resolver
ensp
ENSP00000662466
resolver
enst
ENST00000695904
resolver
genesymbol
CCBE1
resolver
genesymbol_syn
KIAA1983
resolver
hgnc
HGNC:29426
resolver
uniprot
A0A8Q3WKU1
resolver
uniprot
Q6MZX5
resolver
uniprot
Q86SS2
resolver
uniprot
Q8TF19
resolver
uniprot_entry
A0A8Q3WKU1_HUMAN
resolver
uniprot_entry
CCBE1_HUMAN
resolver
uniprot_sec
Q6MZX5
resolver
uniprot_sec
Q86SS2
resolver
uniprot_sec
Q8TF19
resolver
amino_acid_sequence
MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCLKSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYDRERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKYPNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLASNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHRTHSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
uniprot
proteins
disease_involvement
DISEASE: Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) [MIM:235510]: A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS1 inheritance is autosomal recessive. {ECO:0000269|PubMed:19911200, ECO:0000269|PubMed:19935664}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. {ECO:0000269|PubMed:19935664}.
uniprot
proteins
mass_dalton
44103
uniprot
proteins
protein_family
CCBE1 family
uniprot
proteins
pubmed
11853319
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19287381
uniprot
proteins
pubmed
19911200
uniprot
proteins
pubmed
19935664
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25326458
uniprot
proteins
pubmed
32337544
uniprot
proteins
pubmed
36213313
uniprot
proteins
pubmed
37453717
uniprot
proteins
sequence_length
406
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:36213313, ECO:0000269|PubMed:37453717}.
uniprot
proteins