MRPL40 (mitochondrial ribosomal protein L40)

Gene: MRPL40 (mitochondrial ribosomal protein L40) Pan paniscus

Analyze

Symbol:

MRPL40

Name:

mitochondrial ribosomal protein L40

RGD ID:

11922692

Description:

ASSOCIATED WITH autism spectrum disorder (ortholog); autistic disorder (ortholog); chromosome 22q11.2 deletion syndrome, distal (ortholog); FOUND IN mitochondrial large ribosomal subunit (inferred); mitochondrial ribosome (inferred); mitochondrion (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

39S ribosomal protein L40, mitochondrial; large ribosomal subunit protein mL40

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	23	29,057,340 - 29,061,018 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	31,604,620 - 31,608,737 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	2,191,187 - 2,195,350 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	17,865,992 - 17,870,539 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	17,866,322 - 17,870,539 (+)	Ensembl	panpan1.1		panPan2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISO)

autistic disorder (ISO)

chromosome 22q11.2 deletion syndrome, distal (ISO)

chromosome 22q11.2 microduplication syndrome (ISO)

DiGeorge syndrome (ISO)

epilepsy (ISO)

genetic disease (ISO)

immunodeficiency 51 (ISO)

intellectual disability (ISO)

megacolon (ISO)

Neurodevelopmental Disorders (ISO)

Polyarteritis Nodosa, Childhood-Onset (ISO)

primary immunodeficiency disease (ISO)

schizophrenia (ISO)

velocardiofacial syndrome (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

mitochondrial large ribosomal subunit (IEA)

mitochondrial ribosome (IEA)

mitochondrion (IEA)

nucleolus (IEA)

ribonucleoprotein complex (IEA)

ribosome (IEA)

Molecular Function

protein binding (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

MRPL40
(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	23	29,057,340 - 29,061,018 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	31,604,620 - 31,608,737 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	2,191,187 - 2,195,350 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	17,865,992 - 17,870,539 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	17,866,322 - 17,870,539 (+)	Ensembl	panpan1.1		panPan2

MRPL40
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	19,432,545 - 19,436,075 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	19,432,545 - 19,436,075 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	19,420,068 - 19,423,598 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	17,800,036 - 17,803,598 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	17,794,589 - 17,798,148	NCBI
Celera	22	3,272,293 - 3,275,855 (+)	NCBI		Celera
Cytogenetic Map	22	q11.21	NCBI
HuRef	22	3,040,849 - 3,044,411 (+)	NCBI		HuRef
CHM1_1	22	19,419,610 - 19,423,172 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	19,809,376 - 19,812,906 (+)	NCBI		T2T-CHM13v2.0

Mrpl40
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	18,690,767 - 18,695,875 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	18,690,768 - 18,695,612 (-)	Ensembl		GRCm39 Ensembl
GRCm38	16	18,872,018 - 18,876,637 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	18,872,018 - 18,876,862 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	18,872,111 - 18,876,730 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	18,785,780 - 18,790,200 (-)	NCBI		MGSCv36	mm8
Celera	16	19,446,075 - 19,450,694 (-)	NCBI		Celera
Cytogenetic Map	16	A3	NCBI
cM Map	16	11.69	NCBI

Mrpl40
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	95,637,751 - 95,643,587 (+)	NCBI		GRCr8
mRatBN7.2	11	82,133,398 - 82,139,234 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	82,133,398 - 82,139,233 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	90,862,860 - 90,868,698 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	83,524,080 - 83,529,918 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	82,577,348 - 82,583,186 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	86,276,616 - 86,282,452 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	86,276,616 - 86,282,451 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	89,378,582 - 89,384,418 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	11	80,914,027 - 80,919,719 (+)	NCBI		Celera
Cytogenetic Map	11	q23	NCBI

Mrpl40
(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_004955442	18,577,952 - 18,580,517 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955442	18,578,107 - 18,580,517 (-)	NCBI	ChiLan1.0	ChiLan1.0

MRPL40
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	29,773,397 - 29,777,104 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	29,773,403 - 29,777,073 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	29,728,768 - 29,732,471 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	31,175,195 - 31,178,901 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	26	29,222,488 - 29,226,191 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	28,847,911 - 28,851,612 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	29,934,840 - 29,938,543 (-)	NCBI		UU_Cfam_GSD_1.0

Mrpl40
(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_024405118	139,369,421 - 139,373,206 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936619	3,380,335 - 3,384,600 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936619	3,380,957 - 3,384,567 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MRPL40
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	51,102,613 - 51,105,767 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	51,102,900 - 51,105,769 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	54,669,933 - 54,672,802 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MRPL40
(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	19	6,319,745 - 6,323,955 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	6,319,263 - 6,323,799 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666085	610,117 - 613,937 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mrpl40
(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_004624747	96,418 - 100,913 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	96,411 - 99,490 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003814047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSPPAT00000037074 ⟹ ENSPPAP00000014390

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	22	17,866,322 - 17,870,539 (+)	Ensembl

RefSeq Acc Id:

XM_003814047 ⟹ XP_003814095

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	23	29,057,340 - 29,061,018 (+)	NCBI
NHGRI_mPanPan1	22	31,604,620 - 31,608,737 (+)	NCBI
Mhudiblu_PPA_v0	22	2,191,187 - 2,195,350 (+)	NCBI
PanPan1.1	22	17,866,322 - 17,870,539 (+)	NCBI

Sequence:

show sequence

GGCGCCCCAGAAAGGGCGGTTCGCCTGGACGGCGGACAGCGAGCGGGGCCTGCAGTTGCAACCC
GGGCCGCCCGCAGAGGCAGGCGGGGCCCAGGTGGCGTGGACCGCCCGTCACCAGCTCTGCCTCG
CCAGTCTGAGTCCGACTTATTAACTAGCTTCCGTCATTCATCAACACGCGCTATTGGGCATCTT
GCGAGCGCCGGGCTCCGCGCCGGCGCCGGAATGCGATCCGGGCTTCGGACTCGAACGAATGCGG
GGGACGAGCCAACCCTGGTGGGGGAGGCTGGGGCGGACGCGTTTATTAGAAGATCGGGGCCGTT
TGCCTAGACATGAACATTTGGACTCGGAGGAGCAGAGGGACGCCCCCTCGGCTGCCCCGGCTGC
ACTGCGGGGCCGAGGCCCGCGCGAGGGCGCAGACCGACCAACCGGCTAGGGCCTGACTGGCTGG
ACTGTGCCCGCTGCAGAGGCGCGCTCGCAAGCCCAGGGCGGGGACGGAAGGGAGGACCCCGAGC
CGCGTGAAACGCAAGGCCCTCGTGTGTGCGCAGCTGACGCCCTAGGCGGGGCTGCGTCGGGGGC
GGGGACAGGCGCGTCCCAGCCCACGCAGCCGGAACGCCCGAGCGCTGGGCGCCTGGTCTGCCGG
ACCTCAGCAGGGGGCACCGCGGGCCGGACTGCGGAGGGGCGCACGCCCGGAAGCGCCGAGGGTA
GCCATGAGGGCCTCCGTGCTGCGAAGTATCTCGCTAGCCCTGCGCCCGACTAGCGGGCTTCTGG
GAACTTGGCAGATGCAGCTTAGAGAGACTCACCAGCGAGCGTCATTGTTGTCTTTCTGGGAACT
CATTCCCATGAGATCAGAACCTCTTCGAAAAAAGAAGAAGGTAGATCCTAAAAAAGACCAAGAA
GCAAAGGAGCGCTTGAAAAGGAAGATCCGAAAACTGGAAAAGGCTACTCAAGAGCTAATTCCTA
TTGAAGATTTTATTACCCCTCTAAAGTTCTTGGATAAAGCAAGAGAGCGGCCTCAGGTGGAGCT
CACCTTTGAGGAGACTGAGAGGAGAGCTCTGCTTCTGAAGAAGTGGTCCTTGTACAAGCAGCAA
GAGCATAAGATGGAGAGGGACACCATCAGGGCTATGCTAGAAGCCCAGCAGGAAGCTCTGGAGG
AACTGCGACTGGAGTCCCCGAAGCTCCATGCTGAGGCCATCAAGCGGGATCCTAACCTGTTCCC
CTTTGAGAAGGAAGGGCCACATTACACACCACCGATCCCTAACTACCAACCCCCTGAAGGCAGG
TACAATGACATCACCAAGGTGTACACACAAGTGGAGTTTAAGAGATAGACTTGGCAGGCTGCTA
TCCTTAACATGCTGCCCCTGAGAGTAGGAATGACCAGGGTTCAAGTCTGCTTTCCACAGAATCA
GGCATGCTGTTAATAAATACTGGTTTAATCAAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_003814095	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000014390
	ENSPPAP00000014390.1

RefSeq Acc Id:

XP_003814095 ⟸ XM_003814047

- UniProtKB:

A0A2R9AAU6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MRASVLRSISLALRPTSGLLGTWQMQLRETHQRASLLSFWELIPMRSEPLRKKKKVDPKKDQEA
KERLKRKIRKLEKATQELIPIEDFITPLKFLDKARERPQVELTFEETERRALLLKKWSLYKQQE
HKMERDTIRAMLEAQQEALEELRLESPKLHAEAIKRDPNLFPFEKEGPHYTPPIPNYQPPEGRY
NDITKVYTQVEFKR

hide sequence

RefSeq Acc Id:

ENSPPAP00000014390 ⟸ ENSPPAT00000037074

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000030349	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000037074.1	UniProtKB/TrEMBL
Gene3D-CATH	6.10.250.3440	UniProtKB/TrEMBL
InterPro	MRPL40	UniProtKB/TrEMBL
	Ribosomal_L28/L40_mit	UniProtKB/TrEMBL
KEGG Report	pps:100978888	UniProtKB/TrEMBL
NCBI Gene	MRPL40	ENTREZGENE
PANTHER	39S RIBOSOMAL PROTEIN L40, MITOCHONDRIAL	UniProtKB/TrEMBL
	PTHR13359	UniProtKB/TrEMBL
Pfam	MRP-L28	UniProtKB/TrEMBL
UniProt	A0A2R9AAU6	ENTREZGENE, UniProtKB/TrEMBL

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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