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MAB21L1 Gene

protein-coding GIFtS: 53

GC13M034946

mab-21-like 1 (C. elegans)
(Previous name: mab-21 (C. elegans)-like 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CAGR1 ^¹, ², ³
FLJ10197 ^²
Nbla00126 ^²
OTTHUMP00000018238 ^²

Descriptions
mab-21 (C. elegans)-like 1 ^¹
mab-21-like 1 (C. elegans) ^²
mab-21-like protein 1 ^²

External Ids
HGNC: 6757¹
Entrez Gene: 4081²
UniProtKB: Q13394³
Ensembl: ENSG00000180660⁷

Search outside databases for aliases for MAB21L1 gene

Previous GC identifers: GC13M034035 GC13M030034 GC13M034984 GC13M033846

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for MAB21L1:

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be

involved in eye and cerebellum development, and it has been proposed that expansion of a

trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric

disorders. [provided by RefSeq]

UniProtKB/Swiss-Prot: MB211_HUMAN, Q13394

Function: Required for several aspects of embryonic development including normal development of the

eye (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MAB21L1 gene

Entrez Gene cytogenetic band: 13q13 Ensembl cytogenetic band: 13q13.3 HGNC cytogenetic band: 13q13.3

MAB21L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M034946: (about GC identifiers)

Start:	34,946,340 bp from pter
End:	34,949,346 bp from pter
Size:	3,007 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000013.9 NT_024524.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: MB211_HUMAN, Q13394 (See protein sequence)

Recommended Name: Protein mab-21-like 1

Size: 359 amino acids; 40956 Da

Subcellular location: Nucleus (By similarity)

Miscellaneous: A CAG trinucleotide repeat occurs in the 5'-UTR of this gene. This repeat has been

found to be highly polymorphic, although expanded alleles have not yet been definitely linked with

any phenotypic abnormality

Secondary accessions: Q6I9T5

REFSEQ proteins: NP_005575.1

ENSEMBL proteins:

ENSP00000369251

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (MAB21L1)

OriGene Purified Recombinant Human Protein: MAB21L1

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

About this table

Antibodies for MAB21L1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for MAB21L1
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Monoclonal and Polyclonal Antibodies from Abnova (MAB21L1)
	Novus Biologicals Antibody for MAB21L1

Assays for MAB21L1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q13394

ProtoNet protein and cluster: Q13394

UniProtKB/Swiss-Prot: MB211_HUMAN, Q13394

Similarity: Belongs to the mab-21 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MAB21L1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MAB21L1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005584

Applied Biosystems Silencer® siRNAs for MAB21L1

Sigma-Aldrich siRNA for MAB21L1

Sigma-Aldrich shRNA for MAB21L1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_005584
Myc/DDK tagged cDNA clone in CMV expression vector: NM_005584
untagged cDNA clone in CMV expression vector: NM_005584

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005584

UniProtKB/Swiss-Prot: MB211_HUMAN, Q13394

Function: Required for several aspects of embryonic development including normal development of the

eye (By similarity)

Genatlas biochemistry entry for MAB21L1:

originally detected in a retina cDNA library,highly expressed in the cerebellum,homolog to the C

elegans cell fate determining gene mab-21,with a highly polymorphic CAG repeat(from 5 to 31

triplets),transmitted unstably between generation,exhibiting somatic mosaicism,but not correlated

to a clinical phenotype

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mab21l1):

reproductive system

vision/eye

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Interacting proteins for MAB21L1 (ENSP00000369251³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD9	ENSP00000369154³	STRING (score=.861)
DCLK1	ENSP00000353846³	STRING (score=.846)
NBEA	ENSP00000308534³	STRING (score=.827)

About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0008284	positive regulation of cell proliferation	IEA	--
GO:0009653	anatomical structure morphogenesis	TAS	8733127
GO:0043010	camera-type eye development	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MAB21L1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MAB21L1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MAB21L1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005584

Sigma-Aldrich siRNA for MAB21L1

Sigma-Aldrich shRNA for MAB21L1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005584

REFSEQ mRNAs for MAB21L1 gene:

NM_005584.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005584

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005584
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005584
                                 untagged cDNA clone in CMV expression vector: NM_005584

Additional cDNA sequence:

AB073388.1 AK313185.1 BC028170.1 CR457420.1 CR590874.1 CR624017.1 CR624056.1

4 DOTS entries:

DT.95271926 DT.91750943 DT.100823246 DT.100742775

24/41 AceView cDNA sequences (see all 41 ):

CA390601 BM679323 AW950224 CR624056 CR590874 AW872915 BM720613 BM718567

CR624017 CD674336 AI277809 BM675060 NM_005584 BM713194 AL520964 CR457420

BM723481 BX327709 BC028170 AA318770 H17867 BM682674 AA318776 AL528421

highest scoring ESTs for MAB21L1:

AA318622 AL563142 AL712144 AL712386 AU076553 BC028170 BI913050 BM718567 BM720613 BM723481

Unigene Cluster for MAB21L1:

Mab-21-like 1 (C. elegans)

Hs.584776 [show with all ESTs]

Unigene Representative Sequence: NM_005584

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000379919

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MAB21L1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MAB21L1

¹ / ² / ³

3 probe-sets matching MAB21L1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39297_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U38810	0.80	1.00	0.91	1
206163_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005584	0.60	1.00	0.82	1
206163_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCCCTCTGGG

SOURCE GeneReport for Unigene cluster: Hs.584776
Expression variation in blood from EXPOLDB for MAB21L1
UniProtKB/Swiss-Prot: MB211_HUMAN, Q13394
Tissue specificity: Expressed in brain, cerebellum and skeletal muscle

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for MAB21L1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	MAB21L1¹	--	mab-21-like 1 (C. elegans)	95.08(n) 100(a)	486012 XM_543137.2 XP_543137.1
chimpanzee (Pan troglodytes)	MAB21L1¹	--	mab-21-like 1 (C. elegans)	100(n) 100(a)	467258 XM_522656.2 XP_522656.2
cow (Bos taurus)	MAB21L1¹	--	mab-21-like 1 (C. elegans)	94.43(n) 100(a)	540081 XM_591372.3 XP_591372.2
rat (Rattus norvegicus)	Mab21l1¹	--	mab-21-like 1 (C. elegans)	89.88(n) 100(a)	688394 XM_001065810.1 XP_001065810.1
mouse (Mus musculus)	Mab21l1^{1, 5}	3⁵	mab-21-like 1 (C. elegans)^{1, 5}	90.25(n)¹ 100(a)¹	17116¹ NM_010750.2¹ NP_034880.1¹ AF040945⁵ AF228913⁵ (see all 11)

About this table Species with no ortholog for MAB21L1

ENSEMBL Gene Tree for MAB21L1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for MAB21L1 gene

MAB21L2² C1orf161²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601280

Genetic Association Database: MAB21L1
Human Genome Epidemiology Navigator: MAB21L1 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/13 PubMed articles for MAB21L1 gene (see all 13 ):

cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. (PubMed id 8733127)^{2, 3, 4} Margolis R.L.... Ross C.A. (1996)
Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression. (PubMed id 9950369)^{1, 3, 4} Margolis R.L.... Potter N.T. (1999)
Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3. (PubMed id 11526470)^{3, 6} Meira-Lima I.V....Vallada H. (2001)
Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13. (PubMed id 9152839)^{3, 4} Potter N.T. (1997)
Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects. (PubMed id 15526290)^{1, 4} Merello E.... Capra V. (2004)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)³ Kimura K.... Sugano S. (2006)
The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)⁴ Dunham A.... Ross M.T. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. (PubMed id 12880961)⁴ Ohira M.... Nakagawara A. (2003)
Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. (PubMed id 12826745)³ Smith M....Spence M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4081	HGNC: 6757	AceView: MAB21L1	Ensembl:ENSG00000180660	euGenes: HUgn4081
ECgene: MAB21L1	H-InvDB: MAB21L1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for MAB21L1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for MAB21L1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MAB21L1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for MAB21L1		Antibodies for MAB21L1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for MAB21L1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (MAB21L1)
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MAB21L1 Gene

protein-coding GIFtS: 53

Aliases &
Descriptions
for MAB21L1

Summaries
for MAB21L1

Genomic Location
for MAB21L1

Proteins
for MAB21L1

Protein Domains/
Families
for MAB21L1

Gene Function
for MAB21L1

Pathways & Interactions
for MAB21L1

Drugs & Compounds
for MAB21L1

Transcripts
for MAB21L1

Expression
for MAB21L1

Orthologs
for MAB21L1

Paralogs
for MAB21L1

SNPs/Variants
for MAB21L1

Disorders & Mutations
for MAB21L1

Medical News
for MAB21L1

Publications
for MAB21L1

Search for MAB21L1

Genome Databases showing MAB21L1

Other Databases showing MAB21L1

Specialized Databases showing MAB21L1

Licensable Technologies
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MAB21L1 Gene

protein-coding GIFtS: 53

Aliases & Descriptionsfor MAB21L1

Summariesfor MAB21L1

Genomic Locationfor MAB21L1

Proteinsfor MAB21L1

Protein Domains/Familiesfor MAB21L1

Gene Functionfor MAB21L1

Pathways & Interactionsfor MAB21L1

Drugs & Compoundsfor MAB21L1

Transcriptsfor MAB21L1

Expression for MAB21L1

Orthologsfor MAB21L1

Paralogsfor MAB21L1

SNPs/Variantsfor MAB21L1

Disorders & Mutationsfor MAB21L1

Medical Newsfor MAB21L1

Publicationsfor MAB21L1

Search for MAB21L1

Genome Databases showing MAB21L1

Other Databases showing MAB21L1

Specialized Databases showing MAB21L1

Licensable Technologiesfor MAB21L1

Servicesfor MAB21L1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MAB21L1

Summaries
for MAB21L1

Genomic Location
for MAB21L1

Proteins
for MAB21L1

Protein Domains/
Families
for MAB21L1

Gene Function
for MAB21L1

Pathways & Interactions
for MAB21L1

Drugs & Compounds
for MAB21L1

Transcripts
for MAB21L1

Expression
for MAB21L1

Orthologs
for MAB21L1

Paralogs
for MAB21L1

SNPs/Variants
for MAB21L1

Disorders & Mutations
for MAB21L1

Medical News
for MAB21L1

Publications
for MAB21L1

Licensable Technologies
for MAB21L1

Services
for MAB21L1