ORC4
entrez
5000
canonical
uniprot
O43929
canonical
ensembl
ENSG00000115947
resolver
ensp
ENSP00000264169
resolver
ensp
ENSP00000376597
resolver
ensp
ENSP00000438326
resolver
ensp
ENSP00000441502
resolver
ensp
ENSP00000441953
resolver
ensp
ENSP00000602860
resolver
ensp
ENSP00000749224
resolver
genesymbol
ORC4
resolver
genesymbol_syn
ORC4L
resolver
hgnc
HGNC:8490
resolver
uniprot
A8K7H4
resolver
uniprot
B7Z3D0
resolver
uniprot
B7Z5F1
resolver
uniprot
D3DP86
resolver
uniprot
F5H069
resolver
uniprot
Q96B14
resolver
uniprot
Q96C42
resolver
uniprot_entry
A8K7H4_HUMAN
resolver
uniprot_entry
ORC4_HUMAN
resolver
uniprot_entry
Q96B14_HUMAN
resolver
uniprot_sec
B7Z3D0
resolver
uniprot_sec
B7Z5F1
resolver
uniprot_sec
D3DP86
resolver
uniprot_sec
F5H069
resolver
uniprot_sec
Q96C42
resolver
amino_acid_sequence
MSSRKSKSNSLIHTECLSQVQRILRERFCRQSPHSNLFGVQVQYKHLSELLKRTALHGESNSVLIIGPRGSGKTMLINHALKELMEIEEVSENVLQVHLNGLLQINDKIALKEITRQLNLENVVGDKVFGSFAENLSFLLEALKKGDRTSSCPVIFILDEFDLFAHHKNQTLLYNLFDISQSAQTPIAVIGLTCRLDILELLEKRVKSRFSHRQIHLMNSFGFPQYVKIFKEQLSLPAEFPDKVFAEKWNENVQYLSEDRSVQEVLQKHFNISKNLRSLHMLLMLALNRVTASHPFMTAVDLMEASQLCSMDSKANIVHGLSVLEICLIIAMKHLNDIYEEEPFNFQMVYNEFQKFVQRKAHSVYNFEKPVVMKAFEHLQQLELIKPMERTSGNSQREYQLMKLLLDNTQIMNALQKYPNCPTDVRQWATSSLSWL
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800]: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. {ECO:0000269|PubMed:22427655}.
uniprot
proteins
mass_dalton
50377
uniprot
proteins
mutagenesis
MUTAGEN 73; /note="K->A,E: Impairs ORC complex formation."; /evidence="ECO:0000269|PubMed:17716973"; MUTAGEN 159..160; /note="DE->AA: Impairs ORC complex formation."; /evidence="ECO:0000269|PubMed:17716973
uniprot
proteins
protein_family
ORC4 family
uniprot
proteins
pubmed
12909626
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17716973
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21358631
uniprot
proteins
pubmed
21358632
uniprot
proteins
pubmed
22427655
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24989122
uniprot
proteins
pubmed
9353276
uniprot
proteins
sequence_length
436
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins