CDIN1
entrez
84529
canonical
uniprot
Q9Y2V0
canonical
ensembl
ENSG00000186073
resolver
ensp
ENSP00000401362
resolver
ensp
ENSP00000455397
resolver
ensp
ENSP00000456477
resolver
ensp
ENSP00000456736
resolver
ensp
ENSP00000457854
resolver
ensp
ENSP00000493669
resolver
ensp
ENSP00000494718
resolver
ensp
ENSP00000496325
resolver
ensp
ENSP00000536685
resolver
ensp
ENSP00000777798
resolver
enst
ENST00000569302
resolver
enst
ENST00000570265
resolver
enst
ENST00000643612
resolver
enst
ENST00000646533
resolver
genesymbol
CDIN1
resolver
genesymbol_syn
C15orf41
resolver
hgnc
HGNC:26929
resolver
uniprot
A0A2R8Y7J6
resolver
uniprot
A0A2R8YD89
resolver
uniprot
A0A2R8YEZ2
resolver
uniprot
B2RD87
resolver
uniprot
H3BS01
resolver
uniprot_entry
A0A2R8Y7J6_HUMAN
resolver
uniprot_entry
A0A2R8YD89_HUMAN
resolver
uniprot_entry
A0A2R8YEZ2_HUMAN
resolver
uniprot_entry
CDIN1_HUMAN
resolver
uniprot_entry
H3BS01_HUMAN
resolver
uniprot_sec
B2RD87
resolver
amino_acid_sequence
MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNGAAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHAIGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA
uniprot
proteins
disease_involvement
DISEASE: Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. {ECO:0000269|PubMed:23716552, ECO:0000269|PubMed:29885034, ECO:0000269|PubMed:31191338, ECO:0000269|PubMed:33159567}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in erythroid cell differentiation. {ECO:0000269|PubMed:31191338}.
uniprot
proteins
mass_dalton
32264
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23716552
uniprot
proteins
pubmed
29885034
uniprot
proteins
pubmed
31191338
uniprot
proteins
pubmed
33159567
uniprot
proteins
sequence_length
281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31191338}. Cytoplasm {ECO:0000269|PubMed:31191338}. Note=Mainly nuclear. {ECO:0000269|PubMed:31191338}.
uniprot
proteins