Mks1 (MKS transition zone complex subunit 1)

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Gene: Mks1 (MKS transition zone complex subunit 1) Chinchilla lanigera

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Symbol:

Mks1

Name:

MKS transition zone complex subunit 1

RGD ID:

8719631

Description:

INVOLVED IN branching morphogenesis of an epithelial tube (ortholog); cardiac septum morphogenesis (ortholog); cilium assembly (ortholog); ASSOCIATED WITH atrioventricular septal defect (ortholog); Bardet-Biedl syndrome (ortholog); Bardet-Biedl syndrome 13 (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

Meckel syndrome, type 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	4,804,838 - 4,821,556 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	4,805,542 - 4,818,233 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

atrioventricular septal defect (ISO)

Bardet-Biedl syndrome (ISO)

Bardet-Biedl syndrome 13 (ISO)

genetic disease (ISO)

hereditary breast ovarian cancer syndrome (ISO)

intellectual disability (ISO)

Joubert syndrome (ISO)

Joubert syndrome 1 (ISO)

Joubert Syndrome 28 (ISO)

Leber congenital amaurosis 6 (ISO)

Meckel syndrome (ISO)

Meckel syndrome 1 (ISO)

microcephaly (ISO)

Muscle Hypotonia (ISO)

neuropathy (ISO)

pathologic nystagmus (ISO)

peripheral nervous system disease (ISO)

polycystic kidney disease (ISO)

polydactyly (ISO)

retinitis pigmentosa (ISO)

spastic ataxia (ISO)

tetralogy of Fallot (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

branching morphogenesis of an epithelial tube (ISO)

cardiac septum morphogenesis (ISO)

cilium assembly (ISO)

common bile duct development (ISO)

determination of left/right symmetry (ISO)

embryonic brain development (ISO)

embryonic digit morphogenesis (ISO)

embryonic skeletal system development (ISO)

epithelial structure maintenance (ISO)

head development (ISO)

inner ear receptor cell stereocilium organization (ISO)

motile cilium assembly (ISO)

neural tube closure (ISO)

non-motile cilium assembly (ISO)

regulation of canonical Wnt signaling pathway (ISO)

regulation of smoothened signaling pathway (ISO)

regulation of Wnt signaling pathway, planar cell polarity pathway (ISO)

smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation (ISO)

Cellular Component

centriole (ISO)

centrosome (ISO)

ciliary basal body (ISO)

ciliary transition zone (ISO)

cytoplasm (ISO)

membrane (ISO)

MKS complex (ISO)

Molecular Function

protein binding (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Mks1
(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_004955451	4,804,838 - 4,821,556 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	4,805,542 - 4,818,233 (+)	NCBI	ChiLan1.0	ChiLan1.0

MKS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	58,205,441 - 58,219,255 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	58,205,441 - 58,219,605 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	56,282,802 - 56,296,616 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	53,637,797 - 53,651,665 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	52,744,576 - 52,758,745 (-)	NCBI		Celera
Cytogenetic Map	17	q22	NCBI
HuRef	17	51,643,618 - 51,657,787 (-)	NCBI		HuRef
CHM1_1	17	56,347,849 - 56,361,992 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	59,073,328 - 59,087,136 (-)	NCBI		T2T-CHM13v2.0

Mks1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	87,744,007 - 87,754,629 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	87,744,041 - 87,754,629 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	87,853,182 - 87,863,803 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	87,853,215 - 87,863,803 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	87,666,727 - 87,677,181 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	87,669,410 - 87,679,998 (+)	NCBI		MGSCv36	mm8
Celera	11	97,455,630 - 97,466,108 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	52.24	NCBI

Mks1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	73,152,599 - 73,167,451 (+)	NCBI		GRCr8
mRatBN7.2	10	72,655,921 - 72,667,007 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	72,655,921 - 72,666,655 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	77,266,443 - 77,277,109 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	76,771,389 - 76,782,055 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	72,235,889 - 72,246,555 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	75,149,814 - 75,160,481 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	75,149,814 - 75,160,480 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	74,941,813 - 74,952,856 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	76,149,130 - 76,159,796 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	71,568,522 - 71,579,188 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

MKS1
(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	19	74,377,243 - 74,391,173 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	79,188,347 - 79,202,279 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	52,281,443 - 52,295,919 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	57,137,254 - 57,151,122 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	57,137,254 - 57,151,328 (-)	Ensembl	panpan1.1		panPan2

MKS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	32,865,972 - 32,878,712 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	32,860,995 - 32,879,338 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	32,098,261 - 32,115,901 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	33,667,847 - 33,685,484 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	33,670,019 - 33,685,433 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	32,452,658 - 32,471,689 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	32,737,326 - 32,754,965 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	32,830,998 - 32,848,617 (-)	NCBI		UU_Cfam_GSD_1.0

Mks1
(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_024405602	32,198,449 - 32,209,826 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	4,865,243 - 4,878,912 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	4,865,243 - 4,876,601 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MKS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	34,499,142 - 34,512,187 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	34,499,139 - 34,512,191 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	36,299,683 - 36,312,762 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MKS1
(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	16	35,182,276 - 35,196,167 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	35,182,568 - 35,199,858 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	5,998,400 - 6,013,481 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mks1
(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_004624871	51,122 - 63,742 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624871	50,688 - 63,772 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005394033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01043142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDF01248745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCLAT00000024065 ⟹ ENSCLAP00000023839

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955451	4,804,838 - 4,821,556 (+)	Ensembl

RefSeq Acc Id:

XM_005394033 ⟹ XP_005394090

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955451	4,805,542 - 4,818,233 (+)	NCBI

Sequence:

show sequence

TTTCCGGCGCTATTGCGACGCGTCGCAGCAGTCATGGCGGGGACTGTCTGGAATACTGACACTG
GAGAAGCTGTGTATCGTTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTGCATCTGCAAAG
AATCACATCAAGCAGCTTTCTTCATTACCAGCCTGTTGTCCAGCCCGGGAAGGACCTTATAGAC
TTAGGCACTTTTACACCGCACCCAATTGCCAGTGGACACCGCCCAGATGAAGAGGAAGATGAAG
AGGTCGAGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTTGAAGTAGATTTGTACCAGAATGA
AGCAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAAGAGATCCTGAAGCTGGAGAGTTCT
GGTGGCAGGAAGAACCGACGAATCTTTACCTACACTGACTCTGACAGATACACCAACTTGGAGG
AGCACTGTCAGAAAATGACCACTGCAGCCAATGAGGTGCCTTCATTTTTGGTCGAGCGCATGGC
AAATGTTAGGCGGCGACGGCAGGATAGGCGAGGAACGGAGGGCAGCATCCTCAAGTCACGCATC
ATCACCTGGGAACCTTCAGAAGAGTTCATCAAGAGCAACCATGTCATTAACACCCCTCTTCAGA
CAATGTACATCATGGCAGACCTGGGGCCCTATGGAAAGCTTGGCTATAAGACCTATGAACATGT
GCTCTGTATTCTGAAAGTGGACAGCAATGGTGTGCTCACAGTAAAACCTGACTTCTCTGGCCTC
AAAGGACCCTACAGAATCGAGACCGAGGGTGAGAAGCAGGAGCTATGGAAGTATACGATTGACA
ATGCATCCTCCCTCGCACAGCCAGAGGAGGAGGAGCGGGAACGGCGTGTGTTCAAGGATCTTTA
TGGCCGACACAAGGAGTATCTCAGCAGCCTCGTGGGCACGGACTTTGAGATGACAGCCCCGGGT
GCCCTCCGGCTCTTTGTAAATGGAGAGGTAGTTTCAGCCCAAGGCTATGAGTATGACAATCTCT
ACATCCATTTCTTTGTGGAATTGCCAGCTGCTAACTGGTCAAGCCCAGAATTCCATCAGCTCTC
AGGAGTAACTCAGACCTGTGCCACGAAGTCCCTGGGAAGGAACAAGGTAGCTTACTTCTCCTAC
CCATTCACATTTGAAGCATTCTTTCTCCATGAGGACGAATCAGCTGACGCCCTCCCAGAGTGGC
CTGTGCTCTACTGTGAGGTCCGCTCCCTGGACTTCTGGCAGAGGTACCGTGTGGAAGGCTACGG
GGCTGTGGTGCTGCCTGCCACTCCAGGCGCACACACCCTGACAGTGTCCACGTGGAGGCCCATG
GAGCTCAGCCCCGTGGCTGAGCTGAGGAGGTTCTTCATTGGTGGCTCTCTAGAGCTGGAGGACC
TCACCTATGTGCGGATACCAGGAACCTTCAAGGGGGAGCGCCTCAGCCGCTTTGGACTCCGCAC
AGAGACCACGGGCAGTGTCACCTTCCGCCTGCACTGTCTGCAGCAGTCCAGGGCCTTCATGGAG
TCGAGCTCCCTGCAGAAACGGATGCGGAGTGTGTTGGACCGTTTGGAAGGATTCAGCCAGCAGA
GTTCCATTCACAATGTGCTAGAGGCCTTCAACCGAGCCCGGCGTCGCATGCAGGAGGCCCGAGA
CAGCCTCCCCCAGGACCTAGTGAGCCCCTTGGGAACCTCGGTCTCCTAGCTGTCTTTGGCCCTG
GCCTGTGACACAAGGGGGAAAGACGAGGGATGTCAGCCCTGTGCCCTGCTGGCTCTTCATCTTT
CTTCTCAAAGACCACATTGGCCTGCTGAGGACCAGAAGCACTGGAAGTTCGCAGGCTGGCCCCT
CTGCTGGACTTCCAGCCGTGTCTTCTTCCTGCCGGGTGGGAACAAAGCCAGAGACGCTATGGCC
CCACGTGGCCCCTCTTCATATTTCAGCTACTGTAAGGAGTGGCACAGCAAGGCAGGACTTTTGG
CTGAAACTGATTTCACAGGTGAACTCCTAATTAGCCTGTCCTTGACACAGCCTCTCTTCTGGCT
TGTCTCAGTCTCAGCTGCAGAGAGCTGCCTATTTCACAGCCTATAAAAATGGAACTTGCAGCTG
GGCATGGTGGCACACACCTGTAATCCCAGCACTTGGGAGGCTGAGGCAGGAGGATTACTGTGAG
TTTGA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005394090	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000023839
	ENSCLAP00000023839.1

RefSeq Acc Id:

XP_005394090 ⟸ XM_005394033

- UniProtKB:

A0A8C2YUB1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAGTVWNTDTGEAVYRSRDPVRNLRLRVHLQRITSSSFLHYQPVVQPGKDLIDLGTFTPHPIAS
GHRPDEEEDEEVEIGWQEKLFSQFEVDLYQNEAACQSPLDYQYRQEILKLESSGGRKNRRIFTY
TDSDRYTNLEEHCQKMTTAANEVPSFLVERMANVRRRRQDRRGTEGSILKSRIITWEPSEEFIK
SNHVINTPLQTMYIMADLGPYGKLGYKTYEHVLCILKVDSNGVLTVKPDFSGLKGPYRIETEGE
KQELWKYTIDNASSLAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTAPGALRLFVNGEVV
SAQGYEYDNLYIHFFVELPAANWSSPEFHQLSGVTQTCATKSLGRNKVAYFSYPFTFEAFFLHE
DESADALPEWPVLYCEVRSLDFWQRYRVEGYGAVVLPATPGAHTLTVSTWRPMELSPVAELRRF
FIGGSLELEDLTYVRIPGTFKGERLSRFGLRTETTGSVTFRLHCLQQSRAFMESSSLQKRMRSV
LDRLEGFSQQSSIHNVLEAFNRARRRMQEARDSLPQDLVSPLGTSVS

hide sequence

Ensembl Acc Id:

ENSCLAP00000023839 ⟸ ENSCLAT00000024065

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000016366	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000024065	ENTREZGENE
	ENSCLAT00000024065.1	UniProtKB/TrEMBL
InterPro	C2_B9-type_dom	UniProtKB/TrEMBL
NCBI Gene	Mks1	ENTREZGENE
PANTHER	MECKEL SYNDROME TYPE 1 PROTEIN	UniProtKB/TrEMBL
	PTHR12968	UniProtKB/TrEMBL
Pfam	B9-C2	UniProtKB/TrEMBL
PROSITE	C2_B9	UniProtKB/TrEMBL
UniProt	A0A8C2YUB1	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-22	Mks1	MKS transition zone complex subunit 1		Meckel syndrome, type 1	Symbol and/or name change	5135510	APPROVED

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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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - MGI

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