ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	SMC1A
Previous Symbol	SMC1L1
Symbol Alias	DXS423E, KIAA0178, SB1.8, Smcb
Approved Name	structural maintenance of chromosomes 1A
Previous Name	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"
Location	Xp11.22-p11.21
Position	chrX:53401070-53449677, -1
External Links	HGNC: 11111 Entrez Gene: 8243 Ensembl: ENSG00000072501 UCSC: uc004dsg.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 36)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 36)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000398	mRNA splicing, via spliceosome	biological process	TAS	58
GO:0042770	signal transduction in response to DNA damage	biological process	IDA[11877377]	1
GO:0007064	mitotic sister chromatid cohesion	biological process	TAS[12199140]	3
GO:0000070	mitotic sister chromatid segregation	biological process	TAS[7757074]	4
GO:0036033	mediator complex binding	molecular function	IEA	4
GO:0032876	negative regulation of DNA endoreduplication	biological process	IMP[15917200]	3
GO:0006281	DNA repair	biological process	TAS[11877377]	70
GO:0000236	mitotic prometaphase	biological process	TAS	19
GO:0008380	RNA splicing	biological process	TAS	70
GO:0051301	cell division	biological process	IEA	68
GO:0007062	sister chromatid cohesion	biological process	IMP[15917200]	6
GO:0000776	kinetochore	cellular component	IDA[11682612]	19
GO:0009314	response to radiation	biological process	IEP[11877377]	5
GO:0000087	M phase of mitotic cell cycle	biological process	TAS	21
GO:0007091	mitotic metaphase/anaphase transition	biological process	TAS	4
GO:0000075	cell cycle checkpoint	biological process	IDA[11877377]	21
GO:0000278	mitotic cell cycle	biological process	TAS	66
GO:0005654	nucleoplasm	cellular component	TAS	210
GO:0000777	condensed chromosome kinetochore	cellular component	IEA	14
GO:0003682	chromatin binding	molecular function	IDA[11076961]	50
GO:0008280	cohesin core heterodimer	cellular component	TAS[11076961]	1
GO:0030893	meiotic cohesin complex	cellular component	IDA	3
GO:0010467	gene expression	biological process	TAS	154
GO:0005515	protein binding	molecular function	IPI[16438930]	1015
GO:0005524	ATP binding	molecular function	IEA	265
GO:0005634	nucleus	cellular component	IDA	877
GO:0007126	meiosis	biological process	ISS	11
GO:0000794	condensed nuclear chromosome	cellular component	TAS[7757074]	6
GO:0019827	stem cell maintenance	biological process	IEA	14
GO:0030261	chromosome condensation	biological process	IEA	4
GO:0006310	DNA recombination	biological process	IEA	15
GO:0007052	mitotic spindle organization	biological process	TAS[12199140]	7
GO:0005737	cytoplasm	cellular component	IDA	781
GO:0005730	nucleolus	cellular component	IDA	271
GO:0003777	microtubule motor activity	molecular function	NAS[12199140]	20
GO:0046982	protein heterodimerization activity	molecular function	IPI[11590136]	73

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04110	Cell cycle	19

Genes shared at least 5 GO terms with SMC1A (count: 154)

Gene Symbol	Pathway Count	Pathway List
SMC3	21	mediator complex binding; negative regulation of DNA endoreduplication; DNA repair; mitotic prometaphase; cell division; sister chromatid cohesion; M phase of mitotic cell cycle; mitotic metaphase/anaphase transition; mitotic cell cycle; nucleoplasm; chromatin binding; meiotic cohesin complex; protein binding; ATP binding; nucleus; meiosis; stem cell maintenance; mitotic spindle organization; cytoplasm; microtubule motor activity; protein heterodimerization activity;
ZW10	10	mitotic sister chromatid segregation; mitotic prometaphase; cell division; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; protein binding; nucleus; meiosis;
KIF2C	10	mitotic prometaphase; cell division; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; protein binding; ATP binding; nucleus; microtubule motor activity;
MAD1L1	10	mitotic prometaphase; cell division; kinetochore; M phase of mitotic cell cycle; cell cycle checkpoint; mitotic cell cycle; condensed chromosome kinetochore; protein binding; nucleus; cytoplasm;
DHX9	9	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; ATP binding; nucleus; cytoplasm; nucleolus;
MRE11A	9	negative regulation of DNA endoreduplication; DNA repair; sister chromatid cohesion; cell cycle checkpoint; nucleoplasm; protein binding; nucleus; DNA recombination; nucleolus;
SMC2	9	DNA repair; cell division; sister chromatid cohesion; protein binding; ATP binding; nucleus; DNA recombination; cytoplasm; protein heterodimerization activity;
PLK1	9	mitotic prometaphase; kinetochore; M phase of mitotic cell cycle; mitotic metaphase/anaphase transition; mitotic cell cycle; nucleoplasm; protein binding; ATP binding; nucleus;
XPO1	9	mitotic prometaphase; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; nucleoplasm; gene expression; protein binding; cytoplasm; nucleolus;
RCC1	9	cell division; nucleoplasm; chromatin binding; protein binding; nucleus; condensed nuclear chromosome; mitotic spindle organization; cytoplasm; nucleolus;
EFTUD2	8	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
HNRNPA2B1	8	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
HNRNPH1	8	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
SNRNP200	8	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; ATP binding; nucleus; nucleolus;
DDX23	8	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; ATP binding; nucleus; nucleolus;
FUS	8	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
XRCC5	8	DNA repair; nucleoplasm; protein binding; ATP binding; nucleus; DNA recombination; cytoplasm; nucleolus;
MEN1	8	DNA repair; nucleoplasm; chromatin binding; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
SSRP1	8	DNA repair; nucleoplasm; chromatin binding; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
PAFAH1B1	8	mitotic prometaphase; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; protein binding; nucleus; cytoplasm; nucleolus;
CENPC	8	mitotic prometaphase; cell division; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; nucleus; cytoplasm;
PSMC3	8	cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; protein binding; ATP binding; nucleus; cytoplasm;
HNRNPA1	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; nucleus; cytoplasm; nucleolus;
SF3A3	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
RNPS1	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm;
SF3A1	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
U2AF1	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
CD2BP2	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm;
PRPF4	7	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
CDCA5	7	mitotic sister chromatid cohesion; cell division; chromatin binding; protein binding; nucleus; cytoplasm; nucleolus;
MED1	7	mediator complex binding; nucleoplasm; chromatin binding; gene expression; protein binding; nucleus; nucleolus;
RAD9A	7	DNA repair; cell cycle checkpoint; nucleoplasm; protein binding; nucleus; cytoplasm; nucleolus;
CHEK1	7	DNA repair; cell cycle checkpoint; nucleoplasm; protein binding; ATP binding; nucleus; condensed nuclear chromosome;
NCOA6	7	DNA repair; nucleoplasm; chromatin binding; protein binding; nucleus; DNA recombination; nucleolus;
CEP164	7	DNA repair; cell division; mitotic cell cycle; protein binding; nucleus; cytoplasm; nucleolus;
H2AFX	7	DNA repair; nucleoplasm; protein binding; nucleus; meiosis; condensed nuclear chromosome; protein heterodimerization activity;
NDE1	7	mitotic prometaphase; cell division; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; protein binding;
CLASP2	7	mitotic prometaphase; cell division; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; protein binding; cytoplasm;
CLASP1	7	mitotic prometaphase; cell division; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; protein binding;
CENPW	7	cell division; kinetochore; mitotic cell cycle; condensed chromosome kinetochore; protein binding; nucleolus; protein heterodimerization activity;
RAN	7	cell division; nucleoplasm; chromatin binding; gene expression; protein binding; mitotic spindle organization; cytoplasm;
NUMA1	7	cell division; mitotic cell cycle; nucleoplasm; protein binding; nucleus; cytoplasm; nucleolus;
KIF23	7	M phase of mitotic cell cycle; mitotic cell cycle; nucleoplasm; protein binding; ATP binding; nucleus; microtubule motor activity;
RBPJ	7	nucleoplasm; gene expression; protein binding; nucleus; DNA recombination; cytoplasm; nucleolus;
SNW1	6	mRNA splicing, via spliceosome; nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
TXNL4A	6	mRNA splicing, via spliceosome; RNA splicing; cell division; nucleoplasm; gene expression; protein binding;
PRPF6	6	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus;
SNRPD1	6	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus;
SUGP1	6	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; nucleus; nucleolus;
DHX8	6	mRNA splicing, via spliceosome; RNA splicing; protein binding; ATP binding; nucleus; nucleolus;
NCBP1	6	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus;
POLR2G	6	mRNA splicing, via spliceosome; DNA repair; RNA splicing; nucleoplasm; gene expression; nucleus;
SART1	6	mRNA splicing, via spliceosome; nucleoplasm; protein binding; nucleus; cytoplasm; nucleolus;
CPSF7	6	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding; nucleus;
SF3B2	6	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; nucleus; nucleolus;
NIPBL	6	mitotic sister chromatid cohesion; mediator complex binding; chromatin binding; protein binding; nucleus; stem cell maintenance;
FEN1	6	DNA repair; mitotic cell cycle; nucleoplasm; protein binding; nucleus; nucleolus;
UBB	6	DNA repair; cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; protein binding;
KIF22	6	DNA repair; kinetochore; ATP binding; nucleus; cytoplasm; microtubule motor activity;
CHD1L	6	DNA repair; protein binding; ATP binding; nucleus; cytoplasm; nucleolus;
SMG1	6	DNA repair; gene expression; protein binding; ATP binding; nucleus; cytoplasm;
HINFP	6	DNA repair; nucleoplasm; chromatin binding; protein binding; nucleus; nucleolus;
UBC	6	DNA repair; cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; protein binding;
IGHMBP2	6	DNA repair; protein binding; ATP binding; nucleus; DNA recombination; cytoplasm;
RBBP8	6	DNA repair; cell division; cell cycle checkpoint; protein binding; nucleus; meiosis;
RAD23B	6	DNA repair; nucleoplasm; protein binding; nucleus; cytoplasm; nucleolus;
RAD1	6	DNA repair; cell cycle checkpoint; nucleoplasm; protein binding; nucleus; nucleolus;
DDB1	6	DNA repair; cell cycle checkpoint; nucleoplasm; protein binding; nucleus; cytoplasm;
PTTG1	6	DNA repair; cell division; mitotic cell cycle; protein binding; nucleus; cytoplasm;
POLD3	6	DNA repair; mitotic cell cycle; nucleoplasm; protein binding; nucleus; nucleolus;
TP53BP1	6	DNA repair; nucleoplasm; condensed chromosome kinetochore; protein binding; nucleus; cytoplasm;
MAPRE1	6	mitotic prometaphase; cell division; M phase of mitotic cell cycle; mitotic cell cycle; protein binding; cytoplasm;
INCENP	6	mitotic prometaphase; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; condensed chromosome kinetochore; protein binding;
HSPA8	6	RNA splicing; gene expression; protein binding; ATP binding; nucleus; nucleolus;
GEMIN2	6	RNA splicing; nucleoplasm; gene expression; protein binding; nucleus; cytoplasm;
RBM4	6	RNA splicing; nucleoplasm; protein binding; nucleus; cytoplasm; nucleolus;
CENPV	6	cell division; kinetochore; condensed chromosome kinetochore; nucleus; cytoplasm; nucleolus;
CDC45	6	cell cycle checkpoint; mitotic cell cycle; nucleoplasm; protein binding; nucleus; cytoplasm;
POLA2	6	mitotic cell cycle; nucleoplasm; nucleus; cytoplasm; nucleolus; protein heterodimerization activity;
NCOR2	6	nucleoplasm; chromatin binding; gene expression; protein binding; nucleus; nucleolus;
CREBBP	6	nucleoplasm; chromatin binding; gene expression; protein binding; nucleus; cytoplasm;
MAPK3	6	nucleoplasm; gene expression; protein binding; ATP binding; nucleus; nucleolus;
YAP1	6	nucleoplasm; chromatin binding; gene expression; protein binding; nucleus; cytoplasm;
DGCR8	6	nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
MAPK1	6	nucleoplasm; protein binding; ATP binding; nucleus; cytoplasm; nucleolus;
TAF13	6	nucleoplasm; gene expression; protein binding; nucleus; nucleolus; protein heterodimerization activity;
PGR	6	nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; nucleolus;
MED27	6	nucleoplasm; gene expression; nucleus; stem cell maintenance; cytoplasm; nucleolus;
TAF4B	6	nucleoplasm; gene expression; nucleus; cytoplasm; nucleolus; protein heterodimerization activity;
NR4A2	6	nucleoplasm; gene expression; protein binding; nucleus; cytoplasm; protein heterodimerization activity;
IARS	6	gene expression; protein binding; ATP binding; nucleus; cytoplasm; nucleolus;
SNRPB	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
SNRPD2	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
CLP1	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; ATP binding;
U2AF2	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
SNRPA	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
PRPF19	5	mRNA splicing, via spliceosome; DNA repair; protein binding; nucleus; cytoplasm;
SF3B4	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
SNRPG	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
HNRNPC	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
SNRPA1	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
SNRPD3	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
SNRPB2	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
PRPF8	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
CPSF3	5	mRNA splicing, via spliceosome; RNA splicing; nucleoplasm; gene expression; protein binding;
KIFC1	5	mitotic sister chromatid segregation; cell division; ATP binding; nucleus; microtubule motor activity;
INO80E	5	DNA repair; protein binding; nucleus; DNA recombination; nucleolus;
FANCC	5	DNA repair; nucleoplasm; protein binding; nucleus; cytoplasm;
BARD1	5	DNA repair; protein binding; nucleus; cytoplasm; protein heterodimerization activity;
POLD4	5	DNA repair; mitotic cell cycle; nucleoplasm; protein binding; nucleus;
TRIP12	5	DNA repair; nucleoplasm; protein binding; nucleus; cytoplasm;
FANCA	5	DNA repair; nucleoplasm; protein binding; nucleus; cytoplasm;
ATM	5	DNA repair; cell cycle checkpoint; nucleoplasm; protein binding; ATP binding;
CSNK1E	5	DNA repair; mitotic cell cycle; protein binding; ATP binding; nucleus;
RBM14	5	DNA repair; protein binding; nucleus; DNA recombination; nucleolus;
NFRKB	5	DNA repair; protein binding; nucleus; DNA recombination; nucleolus;
USP28	5	DNA repair; nucleoplasm; protein binding; nucleus; nucleolus;
NDNL2	5	DNA repair; protein binding; nucleus; DNA recombination; cytoplasm;
CKAP5	5	mitotic prometaphase; cell division; M phase of mitotic cell cycle; mitotic cell cycle; protein binding;
NUP160	5	mitotic prometaphase; kinetochore; M phase of mitotic cell cycle; mitotic cell cycle; protein binding;
CENPN	5	mitotic prometaphase; M phase of mitotic cell cycle; mitotic cell cycle; nucleoplasm; condensed chromosome kinetochore;
THRAP3	5	RNA splicing; protein binding; ATP binding; nucleus; nucleolus;
CDK12	5	RNA splicing; protein binding; ATP binding; nucleus; nucleolus;
UBE2I	5	cell division; protein binding; ATP binding; nucleus; cytoplasm;
CDK20	5	cell division; protein binding; ATP binding; nucleus; cytoplasm;
PPP1CA	5	cell division; protein binding; nucleus; cytoplasm; nucleolus;
KIF11	5	cell division; ATP binding; mitotic spindle organization; cytoplasm; microtubule motor activity;
CDC26	5	cell division; cell cycle checkpoint; mitotic cell cycle; nucleoplasm; protein binding;
CCND1	5	cell division; mitotic cell cycle; nucleoplasm; protein binding; nucleus;
ANAPC4	5	cell division; cell cycle checkpoint; mitotic cell cycle; nucleoplasm; nucleus;
APC	5	kinetochore; mitotic metaphase/anaphase transition; protein binding; nucleus; cytoplasm;
MPHOSPH6	5	M phase of mitotic cell cycle; protein binding; nucleus; cytoplasm; nucleolus;
PSME1	5	cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; cytoplasm;
PSMD5	5	cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; protein binding;
PSMD7	5	cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; protein binding;
PSMB7	5	cell cycle checkpoint; mitotic cell cycle; nucleoplasm; gene expression; protein binding;
RNF2	5	mitotic cell cycle; chromatin binding; protein binding; nucleus; nucleolus;
CEP57	5	mitotic cell cycle; protein binding; nucleus; cytoplasm; nucleolus;
TAF10	5	nucleoplasm; gene expression; protein binding; nucleus; cytoplasm;
MED12	5	nucleoplasm; chromatin binding; gene expression; nucleus; stem cell maintenance;
NR5A1	5	nucleoplasm; chromatin binding; gene expression; protein binding; nucleus;
NEDD4L	5	nucleoplasm; gene expression; protein binding; nucleus; cytoplasm;
RELA	5	nucleoplasm; chromatin binding; protein binding; nucleus; cytoplasm;
BNIP3	5	nucleoplasm; protein binding; nucleus; cytoplasm; protein heterodimerization activity;
MAML1	5	nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
ATXN1	5	nucleoplasm; protein binding; nucleus; cytoplasm; nucleolus;
MED15	5	nucleoplasm; gene expression; protein binding; nucleus; stem cell maintenance;
MED4	5	nucleoplasm; gene expression; protein binding; nucleus; nucleolus;
MED30	5	nucleoplasm; gene expression; protein binding; nucleus; stem cell maintenance;
FOXP1	5	chromatin binding; nucleus; cytoplasm; nucleolus; protein heterodimerization activity;
DCPS	5	gene expression; protein binding; nucleus; cytoplasm; nucleolus;
PARN	5	gene expression; protein binding; nucleus; cytoplasm; nucleolus;
GSK3B	5	protein binding; ATP binding; nucleus; cytoplasm; nucleolus;
RPS6KA4	5	protein binding; ATP binding; nucleus; cytoplasm; nucleolus;

Genes shared at least 2 KEGG pathways with SMC1A (count: 0)

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Region: chrX:53401070..53449677 View in gBrowse