ORC1
entrez
4998
canonical
uniprot
Q13415
canonical
ensembl
ENSG00000085840
resolver
ensp
ENSP00000360621
resolver
ensp
ENSP00000360623
resolver
ensp
ENSP00000522448
resolver
ensp
ENSP00000591521
resolver
ensp
ENSP00000591522
resolver
ensp
ENSP00000629791
resolver
enst
ENST00000371566
resolver
enst
ENST00000371568
resolver
enst
ENST00000959732
resolver
genesymbol
ORC1
resolver
genesymbol
ORC1L
resolver
genesymbol_syn
ORC1L
resolver
genesymbol_syn
PARC1
resolver
hgnc
HGNC:8487
resolver
uniprot
B7Z8H0
resolver
uniprot
D3DQ34
resolver
uniprot
Q13471
resolver
uniprot
Q5T0F5
resolver
uniprot
Q96F82
resolver
uniprot_entry
B7Z8H0_HUMAN
resolver
uniprot_entry
ORC1_HUMAN
resolver
uniprot_entry
Q96F82_HUMAN
resolver
uniprot_sec
D3DQ34
resolver
uniprot_sec
Q13471
resolver
uniprot_sec
Q5T0F5
resolver
amino_acid_sequence
MAHYPTRLKTRKTYSWVGRPLLDRKLHYQTYREMCVKTEGCSTEIHIQIGQFVLIEGDDDENPYVAKLLELFEDDSDPPPKKRARVQWFVRFCEVPACKRHLLGRKPGAQEIFWYDYPACDSNINAETIIGLVRVIPLAPKDVVPTNLKNEKTLFVKLSWNEKKFRPLSSELFAELNKPQESAAKCQKPVRAKSKSAESPSWTPAEHVAKRIESRHSASKSRQTPTHPLTPRARKRLELGNLGNPQMSQQTSCASLDSPGRIKRKVAFSEITSPSKRSQPDKLQTLSPALKAPEKTRETGLSYTEDDKKASPEHRIILRTRIAASKTIDIREERTLTPISGGQRSSVVPSVILKPENIKKRDAKEAKAQNEATSTPHRIRRKSSVLTMNRIRQQLRFLGNSKSDQEEKEILPAAEISDSSSDEEEASTPPLPRRAPRTVSRNLRSSLKSSLHTLTKVPKKSLKPRTPRCAAPQIRSRSLAAQEPASVLEEARLRLHVSAVPESLPCREQEFQDIYNFVESKLLDHTGGCMYISGVPGTGKTATVHEVIRCLQQAAQANDVPPFQYIEVNGMKLTEPHQVYVQILQKLTGQKATANHAAELLAKQFCTRGSPQETTVLLVDELDLLWTHKQDIMYNLFDWPTHKEARLVVLAIANTMDLPERIMMNRVSSRLGLTRMCFQPYTYSQLQQILRSRLKHLKAFEDDAIQLVARKVAALSGDARRCLDICRRATEICEFSQQKPDSPGLVTIAHSMEAVDEMFSSSYITAIKNSSVLEQSFLRAILAEFRRSGLEEATFQQIYSQHVALCRMEGLPYPTMSETMAVCSHLGSCRLLLVEPSRNDLLLRVRLNVSQDDVLYALKDE
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]: 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, ECO:0000269|PubMed:21358633, ECO:0000269|PubMed:28112645}. 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 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.
uniprot
proteins
mass_dalton
97350
uniprot
proteins
mutagenesis
MUTAGEN 620; /note="D->A: Abolished ATPase activity."; /evidence="ECO:0000269|PubMed:28112645
uniprot
proteins
post_translational_modification
PTM: Phosphorylated during mitosis. {ECO:0000269|PubMed:22645314}.
uniprot
proteins
protein_family
ORC1 family
uniprot
proteins
pubmed
10438470
uniprot
proteins
pubmed
12909626
uniprot
proteins
pubmed
12909627
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17716973
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21358631
uniprot
proteins
pubmed
21358632
uniprot
proteins
pubmed
21358633
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22645314
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28112645
uniprot
proteins
pubmed
7502077
uniprot
proteins
pubmed
9566895
uniprot
proteins
sequence_length
861
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins