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Gene: Smu1 (SMU1 DNA replication regulator and spliceosomal factor) Heterocephalus glaber

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Symbol:

Smu1

Name:

SMU1 DNA replication regulator and spliceosomal factor

RGD ID:

18931959

Description:

INVOLVED IN mRNA processing (inferred); mRNA splicing, via spliceosome (inferred); RNA splicing (inferred); ASSOCIATED WITH acromesomelic dysplasia, Maroteaux type (ortholog); distal arthrogryposis type 1A (ortholog); frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ortholog); FOUND IN nucleus (ortholog); U2-type precatalytic spliceosome (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

DNA replication regulator and spliceosomal factor; WD40 repeat-containing protein SMU1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624736	37,798,167 - 37,826,935 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624736	37,797,710 - 37,826,939 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Smu1	Naked Mole-Rat	acromesomelic dysplasia, Maroteaux type		ISO	SMU1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Acromesomelic dysplasia 1 and Maroteaux type	ClinVar	PMID:28492532
Smu1	Naked Mole-Rat	distal arthrogryposis type 1A		ISO	SMU1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Arthrogryposis more ...	ClinVar	PMID:28492532
Smu1	Naked Mole-Rat	frontotemporal dementia and/or amyotrophic lateral sclerosis 6		ISO	SMU1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	ClinVar	PMID:28492532
Smu1	Naked Mole-Rat	galactosemia		ISO	SMU1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	ClinVar	PMID:28492532
Smu1	Naked Mole-Rat	primary ciliary dyskinesia		ISO	SMU1 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Primary ciliary dyskinesia	ClinVar	PMID:28492532

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Smu1	Naked Mole-Rat	mRNA processing	involved_in	IEA	UniProtKB-KW:KW-0507	150520179		UniProt	GO_REF:0000043
Smu1	Naked Mole-Rat	mRNA splicing, via spliceosome	involved_in	IEA	InterPro:IPR045184	150520179		InterPro	GO_REF:0000002
Smu1	Naked Mole-Rat	RNA splicing	involved_in	IEA	UniProtKB-KW:KW-0508	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Smu1	Naked Mole-Rat	nuclear speck	located_in	IEA	UniProtKB-SubCell:SL-0186	150520179		UniProt	GO_REF:0000044
Smu1	Naked Mole-Rat	nucleus	located_in	ISO	SMU1 (Homo sapiens)	9068941	PMID:28781166	UniProt	PMID:28781166
Smu1	Naked Mole-Rat	U2-type precatalytic spliceosome	part_of	ISO	SMU1 (Homo sapiens)	9068941	PMID:28781166	UniProt	PMID:28781166

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Smu1	Naked Mole-Rat	protein binding	enables	ISO	UniProtKB:Q13123 and UniProtKB:Q96HT8	9068941	PMID:33961781	IntAct	PMID:33961781
Smu1	Naked Mole-Rat	protein binding	enables	ISO	UniProtKB:Q13123	9068941	PMID:22365833 more ...	IntAct	PMID:22365833 more ...
Smu1	Naked Mole-Rat	protein binding	enables	ISO	UniProtKB:Q96HT8	9068941	PMID:21516116 and PMID:25416956	IntAct	PMID:21516116 and PMID:25416956
Smu1	Naked Mole-Rat	protein binding	enables	ISO	UniProtKB:O76024 and UniProtKB:P49821	9068941	PMID:32814053	IntAct	PMID:32814053
Smu1	Naked Mole-Rat	protein binding	enables	ISO	UniProtKB:A6NK89 more ...	9068941	PMID:32296183	IntAct	PMID:32296183

PMID:22301074	PMID:30032202

Smu1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624736	37,798,167 - 37,826,935 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624736	37,797,710 - 37,826,939 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

SMU1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	33,041,765 - 33,076,674 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	33,041,765 - 33,076,674 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	33,041,763 - 33,076,672 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	33,031,850 - 33,066,714 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	33,037,168 - 33,066,644	NCBI
Celera	9	32,973,152 - 33,007,723 (-)	NCBI		Celera
Cytogenetic Map	9	p21.1	NCBI
HuRef	9	33,000,244 - 33,034,724 (-)	NCBI		HuRef
CHM1_1	9	33,041,616 - 33,076,467 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	33,058,326 - 33,097,983 (-)	NCBI		T2T-CHM13v2.0

Smu1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	40,735,649 - 40,757,885 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	40,736,542 - 40,757,923 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	40,735,649 - 40,757,885 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	40,736,542 - 40,757,923 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	40,682,682 - 40,704,918 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	40,925,789 - 40,946,542 (-)	NCBI		MGSCv36	mm8
Celera	4	40,395,909 - 40,418,582 (-)	NCBI		Celera
Cytogenetic Map	4	A5	NCBI
cM Map	4	20.46	NCBI

Smu1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	60,652,680 - 60,671,251 (-)	NCBI		GRCr8
mRatBN7.2	5	55,856,691 - 55,875,262 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	55,856,246 - 55,875,300 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	57,822,380 - 57,840,946 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	59,641,542 - 59,660,108 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	59,635,611 - 59,654,276 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	57,042,301 - 57,061,379 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	57,042,705 - 57,061,365 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	61,576,122 - 61,595,202 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	58,115,070 - 58,133,640 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	58,115,248 - 58,133,819 (-)	NCBI
Celera	5	54,468,882 - 54,487,453 (-)	NCBI		Celera
Cytogenetic Map	5	q22	NCBI

Smu1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955472	2,570,340 - 2,600,146 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955472	2,570,248 - 2,600,551 (+)	NCBI	ChiLan1.0	ChiLan1.0

SMU1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	11	91,529,456 - 91,560,515 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	91,535,344 - 91,566,456 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	32,819,539 - 32,851,273 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	33,627,765 - 33,659,530 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	33,628,027 - 33,659,539 (-)	Ensembl	panpan1.1		panPan2

SMU1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	50,172,679 - 50,195,719 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	50,174,153 - 50,195,644 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	48,802,624 - 48,824,195 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	51,114,748 - 51,136,321 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	51,113,275 - 51,136,290 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	49,777,760 - 49,799,378 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	49,644,471 - 49,666,053 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	50,409,655 - 50,431,231 (-)	NCBI		UU_Cfam_GSD_1.0

Smu1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	165,067,775 - 165,091,578 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936524	1,615,129 - 1,639,193 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936524	1,615,299 - 1,639,133 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SMU1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	33,399,383 - 33,430,971 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	33,399,383 - 33,426,313 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	37,653,407 - 37,680,329 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SMU1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	47,188,919 - 47,214,320 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666038	44,084,954 - 44,118,204 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	XM_004838393	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_004838394	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AHKG01013825	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GEBF01001117	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSHGLT00000012919 ⟹ ENSHGLP00000012782

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla_female_1.0 Ensembl	NW_004624736	37,798,167 - 37,826,935 (-)	Ensembl

Ensembl Acc Id:

ENSHGLT00000012920 ⟹ ENSHGLP00000012783

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla_female_1.0 Ensembl	NW_004624736	37,798,318 - 37,824,799 (-)	Ensembl

RefSeq Acc Id:

XM_004838393 ⟹ XP_004838450

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624736	37,797,710 - 37,826,939 (-)	NCBI

RefSeq Acc Id:

XM_004838394 ⟹ XP_004838451

Type:

CODING

Position:

Naked Mole-Rat Assembly	Chr	Position (strand)	Source
HetGla 1.0	NW_004624736	37,797,710 - 37,825,595 (-)	NCBI


Protein RefSeqs	XP_004838450	(Get FASTA)	NCBI Sequence Viewer
	XP_004838451	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSHGLP00000012782
	ENSHGLP00000012783
GenBank Protein	JAO02516	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_004838450 ⟸ XM_004838393
- Peptide Label:	isoform X1
- UniProtKB:	A0A0P6K7N1 (UniProtKB/TrEMBL), G5B039 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_004838451 ⟸ XM_004838394
- Peptide Label:	isoform X2
- UniProtKB:	G5B039 (UniProtKB/TrEMBL), A0AAX6NW85 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSHGLP00000012782 ⟸ ENSHGLT00000012919

Ensembl Acc Id:

ENSHGLP00000012783 ⟸ ENSHGLT00000012920

Database	Acc Id	Source(s)
Ensembl Genes	ENSHGLG00000009143	Ensembl, ENTREZGENE
Ensembl Transcript	ENSHGLT00000012919	ENTREZGENE
	ENSHGLT00000012920	ENTREZGENE
Gene3D-CATH	2.130.10.10	UniProtKB/TrEMBL
InterPro	CTLH_C	UniProtKB/TrEMBL
	G-protein_beta_WD-40_rep	UniProtKB/TrEMBL
	LisH	UniProtKB/TrEMBL
	SMU1	UniProtKB/TrEMBL
	TPL_SMU1_LisH-like	UniProtKB/TrEMBL
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/TrEMBL
	WD40_repeat	UniProtKB/TrEMBL
	WD40_repeat_CS	UniProtKB/TrEMBL
	WD40_repeat_dom_sf	UniProtKB/TrEMBL
KEGG Report	hgl:101720596	UniProtKB/TrEMBL
NCBI Gene	Smu1	ENTREZGENE
PANTHER	PTHR22848	UniProtKB/TrEMBL
Pfam	LisH_TPL	UniProtKB/TrEMBL
	WD40	UniProtKB/TrEMBL
PRINTS	GPROTEINBRPT	UniProtKB/TrEMBL
PROSITE	CTLH	UniProtKB/TrEMBL
	LISH	UniProtKB/TrEMBL
	WD_REPEATS_1	UniProtKB/TrEMBL
	WD_REPEATS_2	UniProtKB/TrEMBL
	WD_REPEATS_REGION	UniProtKB/TrEMBL
SMART	CTLH	UniProtKB/TrEMBL
	LisH	UniProtKB/TrEMBL
	WD40	UniProtKB/TrEMBL
Superfamily-SCOP	SSF50978	UniProtKB/TrEMBL
UniProt	A0A0P6K7N1	ENTREZGENE, UniProtKB/TrEMBL
	A0AAX6NW85	ENTREZGENE, UniProtKB/TrEMBL
	G5B039	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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