ABI3BP
entrez
25890
canonical
uniprot
Q7Z7G0
canonical
ensembl
ENSG00000154175
resolver
ensp
ENSP00000284322
resolver
ensp
ENSP00000419029
resolver
ensp
ENSP00000420524
resolver
ensp
ENSP00000433993
resolver
ensp
ENSP00000552255
resolver
ensp
ENSP00000552262
resolver
ensp
ENSP00000552265
resolver
ensp
ENSP00000552289
resolver
ensp
ENSP00000552298
resolver
ensp
ENSP00000621025
resolver
enst
ENST00000471714
resolver
enst
ENST00000486770
resolver
enst
ENST00000495063
resolver
genesymbol
ABI3BP
resolver
genesymbol_syn
NESHBP
resolver
genesymbol_syn
TARSH
resolver
hgnc
HGNC:17265
resolver
uniprot
B3KSL4
resolver
uniprot
D3YTG3
resolver
uniprot
F6R962
resolver
uniprot
H7C556
resolver
uniprot
Q6ZW20
resolver
uniprot
Q6ZW22
resolver
uniprot
Q9C082
resolver
uniprot
Q9UFI6
resolver
uniprot_entry
D3YTG3_HUMAN
resolver
uniprot_entry
F6R962_HUMAN
resolver
uniprot_entry
H7C556_HUMAN
resolver
uniprot_entry
TARSH_HUMAN
resolver
uniprot_sec
B3KSL4
resolver
uniprot_sec
Q6ZW20
resolver
uniprot_sec
Q6ZW22
resolver
uniprot_sec
Q9C082
resolver
uniprot_sec
Q9UFI6
resolver
amino_acid_sequence
MLSSLGCLLLCGSITLALGNAQKLPKGKRPNLKVHINTTSDSILLKFLRPSPNVKLEGLLLGYGSNVSPNQYFPLPAEGKFTEAIVDAEPKYLIVVRPAPPPSQKKSCSGKTRSRKPLQLVVGTLTPSSVFLSWGFLINPHHDWTLPSHCPNDRFYTIRYREKDKEKKWIFQICPATETIVENLKPNTVYEFGVKDNVEGGIWSKIFNHKTVVGSKKVNGKIQSTYDQDHTVPAYVPRKLIPITIIKQVIQNVTHKDSAKSPEKAPLGGVILVHLIIPGLNETTVKLPASLMFEISDALKTQLAKNETLALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSALDVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDRILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKRRPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHTKPAPKQTPRAPPKPKTSPRPRIPQTQPVPKVPQRVTAKPKTSPSPEVSYTTPAPKDVLLPHKPYPEVSQSEPAPLETRGIPFIPMISPSPSQEELQTTLEETDQSTQEPFTTKIPRTTELAKTTQAPHRFYTTVRPRTSDKPHIRPGVKQAPRPSGADRNVSVDSTHPTKKPGTRRPPLPPRPTHPRRKPLPPNNVTGKPGSAGIISSGPITTPPLRSTPRPTGTPLERIETDIKQPTVPASGEELENITDFSSSPTRETDPLGKPRFKGPHVRYIQKPDNSPCSITDSVKRFPKEEATEGNATSPPQNPPTNLTVVTVEGCPSFVILDWEKPLNDTVTEYEVISRENGSFSGKNKSIQMTNQTFSTVENLKPNTSYEFQVKPKNPLGEGPVSNTVAFSTESADPRVSEPVSAGRDAIWTERPFNSDSYSECKGKQYVKRTWYKKFVGVQLCNSLRYKIYLSDSLTGKFYNIGDQRGHGEDHCQFVDSFLDGRTGQQLTSDQLPIKEGYFRAVRQEPVQFGEIGGHTQINYVQWYECGTTIPGKW
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in ABI3BP has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269|PubMed:28493397}.
uniprot
proteins
mass_dalton
117895
uniprot
proteins
pubmed
11501947
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
28493397
uniprot
proteins
sequence_length
1068
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins