SOBP
entrez
55084
canonical
uniprot
A7XYQ1
canonical
ensembl
ENSG00000112320
resolver
ensp
ENSP00000318900
resolver
ensp
ENSP00000581465
resolver
ensp
ENSP00000581466
resolver
ensp
ENSP00000624092
resolver
enst
ENST00000317357
resolver
enst
ENST00000911406
resolver
enst
ENST00000911407
resolver
genesymbol
SOBP
resolver
genesymbol_syn
JXC1
resolver
hgnc
HGNC:29256
resolver
uniprot
B0QZ12
resolver
uniprot
Q24K27
resolver
uniprot
Q5BJD4
resolver
uniprot
Q8N2B2
resolver
uniprot_entry
Q24K27_HUMAN
resolver
uniprot_entry
SOBP_HUMAN
resolver
uniprot_sec
B0QZ12
resolver
uniprot_sec
Q5BJD4
resolver
uniprot_sec
Q8N2B2
resolver
amino_acid_sequence
MAEMEKEGRPPENKRSRKPAHPVKREINEEMKNFAENTMNELLGWYGYDKVELKDGEDIEFRSYPTDGESRQHISVLKENSLPKPKLPEDSVISPYNISTGYSGLATGNGLSDSPAGSKDHGSVPIIVPLIPPPFIKPPAEDDVSNVQIMCAWCQKVGIKRYSLSMGSEVKSFCSEKCFAACRRAYFKRNKARDEDGHAENFPQQHYAKETPRLAFKNNCELLVCDWCKHIRHTKEYLDFGDGERRLQFCSAKCLNQYKMDIFYKETQANLPAGLCSTLHPPMENKAEGTGVQLLTPDSWNIPLTDARRKAPSPVATAGQSQGPGPSASTTVSPSDTANCSVTKIPTPVPKSIPISETPNIPPVSVQPPASIGPPLGVPPRSPPMVMTNRGPVPLPIFMEQQIMQQIRPPFIRGPPHHASNPNSPLSNPMLPGIGPPPGGPRNLGPTSSPMHRPMLSPHIHPPSTPTMPGNPPGLLPPPPPGAPLPSLPFPPVSMMPNGPMPVPQMMNFGLPSLAPLVPPPTLLVPYPVIVPLPVPIPIPIPIPHVSDSKPPNGFSSNGENFIPNAPGDSAAAGGKPSGHSLSPRDSKQGSSKSADSPPGCSGQALSLAPTPAEHGRSEVVDLTRRAGSPPGPPGAGGQLGFPGVLQGPQDGVIDLTVGHRARLHNVIHRALHAHVKAEREPSAAERRTCGGCRDGHCSPPAAGDPGPGAPAGPEAAAACNVIVNGTRGAAAEGAKSAEPPPEQPPPPPPPAPPKKLLSPEEPAVSELESVKENNCASNCHLDGEAAKKLMGEEALAGGDKSDPNLNNPADEDHAYALRMLPKTGCVIQPVPKPAEKAAMAPCIISSPMLSAGPEDLEPPLKRRCLRIRNQNK
uniprot
proteins
disease_involvement
DISEASE: Impaired intellectual development, anterior maxillary protrusion, and strabismus (MRAMS) [MIM:613671]: A syndrome characterized by severe intellectual disability, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. {ECO:0000269|PubMed:21035105}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Implicated in development of the cochlea. {ECO:0000250|UniProtKB:Q0P5V2}.
uniprot
proteins
mass_dalton
92658
uniprot
proteins
protein_family
SOBP family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21035105
uniprot
proteins
pubmed
23086935
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
873
uniprot
proteins