DYNC1I2
entrez
1781
canonical
uniprot
Q13409
canonical
ensembl
ENSG00000077380
resolver
ensembl
ENSG00000292102
resolver
ensp
ENSP00000339430
resolver
ensp
ENSP00000380308
resolver
ensp
ENSP00000386397
resolver
ensp
ENSP00000386415
resolver
ensp
ENSP00000386522
resolver
ensp
ENSP00000386591
resolver
ensp
ENSP00000423339
resolver
ensp
ENSP00000539717
resolver
ensp
ENSP00000539724
resolver
ensp
ENSP00000784934
resolver
genesymbol
DYNC1I2
resolver
genesymbol_syn
DNCI2
resolver
genesymbol_syn
DNCIC2
resolver
hgnc
HGNC:2964
resolver
uniprot
A0A140VKE9
resolver
uniprot
B4DPZ3
resolver
uniprot
B7ZA04
resolver
uniprot
D3DPD4
resolver
uniprot
D3DPD5
resolver
uniprot
D3DPD6
resolver
uniprot
Q32LY9
resolver
uniprot
Q53S84
resolver
uniprot
Q5BJF8
resolver
uniprot
Q7Z4X1
resolver
uniprot
Q96NG7
resolver
uniprot
Q96S87
resolver
uniprot
Q9BXZ5
resolver
uniprot
Q9NT58
resolver
uniprot_entry
A0A140VKE9_HUMAN
resolver
uniprot_entry
B4DPZ3_HUMAN
resolver
uniprot_entry
DC1I2_HUMAN
resolver
uniprot_sec
B7ZA04
resolver
uniprot_sec
D3DPD4
resolver
uniprot_sec
D3DPD5
resolver
uniprot_sec
D3DPD6
resolver
uniprot_sec
Q32LY9
resolver
uniprot_sec
Q53S84
resolver
uniprot_sec
Q5BJF8
resolver
uniprot_sec
Q7Z4X1
resolver
uniprot_sec
Q96NG7
resolver
uniprot_sec
Q96S87
resolver
uniprot_sec
Q9BXZ5
resolver
uniprot_sec
Q9NT58
resolver
amino_acid_sequence
MSDKSELKAELERKKQRLAQIREEKKRKEEERKKKETDQKKEAVAPVQEESDLEKKRREAEALLQSMGLTPESPIVFSEYWVPPPMSPSSKSVSTPSEAGSQDSGDGAVGSRTLHWDTDPSVLQLHSDSDLGRGPIKLGMAKITQVDFPPREIVTYTKETQTPVMAQPKEDEEEDDDVVAPKPPIEPEEEKTLKKDEENDSKAPPHELTEEEKQQILHSEEFLSFFDHSTRIVERALSEQINIFFDYSGRDLEDKEGEIQAGAKLSLNRQFFDERWSKHRVVSCLDWSSQYPELLVASYNNNEDAPHEPDGVALVWNMKYKKTTPEYVFHCQSAVMSATFAKFHPNLVVGGTYSGQIVLWDNRSNKRTPVQRTPLSAAAHTHPVYCVNVVGTQNAHNLISISTDGKICSWSLDMLSHPQDSMELVHKQSKAVAVTSMSFPVGDVNNFVVGSEEGSVYTACRHGSKAGISEMFEGHQGPITGIHCHAAVGAVDFSHLFVTSSFDWTVKLWTTKNNKPLYSFEDNADYVYDVMWSPTHPALFACVDGMGRLDLWNLNNDTEVPTASISVEGNPALNRVRWTHSGREIAVGDSEGQIVIYDVGEQIAVPRNDEWARFGRTLAEINANRADAEEEAATRIPA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia. {ECO:0000269|PubMed:31079899}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function (PubMed:31079899). Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules (PubMed:31079899). The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCTN1 (By similarity). Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes (By similarity). {ECO:0000250|UniProtKB:Q62871, ECO:0000269|PubMed:31079899}.
uniprot
proteins
mass_dalton
71457
uniprot
proteins
post_translational_modification
PTM: The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding. {ECO:0000250|UniProtKB:Q62871}.; PTM: Pyrophosphorylation by 5-diphosphoinositol pentakisphosphate (5-IP7) promotes interaction with DCTN1. Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue. {ECO:0000250|UniProtKB:O88487}.
uniprot
proteins
protein_family
Dynein intermediate chain family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20006841
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27502274
uniprot
proteins
pubmed
29420470
uniprot
proteins
pubmed
31079899
uniprot
proteins
pubmed
36071160
uniprot
proteins
pubmed
8522607
uniprot
proteins
sequence_length
638
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305|PubMed:36071160}. Cytoplasm {ECO:0000250|UniProtKB:O88487}. Note=Detected in the cytoplasm of pachytene spermatocytes. Localizes to the manchette in elongating spermatids. {ECO:0000250|UniProtKB:O88487}.
uniprot
proteins