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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RAD21L1 Gene

protein-coding GIFtS: 41
GCID: GC20P001206

RAD21-like 1 (S. pombe)

Explore 1 disease affiliated with
RAD21L1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
RAD21-Like 1 (S. Pombe)¹ ²
RAD21L¹ ² ³
DJ545L17.2¹
Double-Strand-Break Repair Protein Rad21-Like Protein 1²

External Ids:	HGNC: 16271¹	Entrez Gene: 642636²	Ensembl: ENSG00000244588⁷	UniProtKB: Q9H4I0³

Export aliases for RAD21L1 gene to outside databases

Previous GC identifers: GC20U990229 GC20P001166

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

UniProtKB/Swiss-Prot: RD21L_HUMAN, Q9H4I0

Function: Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male

meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous

chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later

stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination

between homologous chromosomes during prophase I (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011387.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RAD21L1 gene promoter:
RFX1 AML1a CUTL1 IRF-1 Gfi-1 Pax-3 IRF-2 CBF-A Pax-4a CBF(2)
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for RAD21L1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAD21L1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13

RAD21L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAD21L1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P001206: view genomic region (about GC identifiers)

Start:	1,206,700 bp from pter	End:	1,277,065 bp from pter
Size:	70,366 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RD21L_HUMAN, Q9H4I0 (See protein sequence)

Recommended Name: Double-strand-break repair protein rad21-like protein 1

Size: 556 amino acids; 63324 Da

Subunit: Component of some meiotic cohesin complex composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached

via their hinge domain, RAD21L which link them, and STAG3 (By similarity)

Subcellular location: Nucleus (By similarity). Chromosome (By similarity). Note=In meiotic chromosomes, localized along

axial elements in early meiosis: detectable on the axial elements in leptotene, and stays on the axial/lateral

elements until mid pachytene. It then disappears and is replaced with RAD21. Compared to REC8, has mutually exclusive

loading sites on the chromosomes: REC8 and RAD21L form distinct cohesin-enriched domains along the axial elements (By

similarity)

Secondary accessions: B2RXL0 B7ZBB1 B7ZW76 Q5W0X5

Alternative splicing: 2 isoforms: Q9H4I0-1 Q9H4I0-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAD21L1: NX_Q9H4I0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H4I0

RAD21L1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001130038.2

ENSEMBL proteins:

ENSP00000385925 ENSP00000386414 ENSP00000246108 ENSP00000371306

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	Uscn Proteins for RAD21L1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000228	nuclear chromosome	--	--
GO:0000800	lateral element	IEA	--
GO:0005634	nucleus	ISS	--
GO:0005694	chromosome	ISS	--
GO:0030893	meiotic cohesin complex	ISS	--

RAD21L1 for ontologies About GeneDecksing

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

RAD21L1 for domains About GeneDecksing

3 InterPro domains/families:

IPR023093 Rad21/Rec8_C

IPR006909 Rad21/Rec8_C_eu

IPR006910 Rad21_Rec8_N

Graphical View of Domain Structure for InterPro Entry Q9H4I0

ProtoNet protein and cluster: Q9H4I0

UniProtKB/Swiss-Prot: RD21L_HUMAN, Q9H4I0

Similarity: Belongs to the rad21 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RD21L_HUMAN, Q9H4I0

Function: Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male

meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous

chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later

stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination

between homologous chromosomes during prophase I (By similarity)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAD21L1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD21L1

Animal Models:
Mouse knock-out Rad21l^tm1Amp for RAD21L1
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Rad21l):

cellular

endocrine/exocrine gland

homeostasis/metabolism

reproductive system

RAD21L1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RAD21L1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for RAD21L1 (ENSP00000386414⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAD21	ENSP00000297338⁴	STRING: ENSP00000297338
SGOL1	ENSP00000263753⁴	STRING: ENSP00000263753
SGOL2	ENSP00000350447⁴	STRING: ENSP00000350447
SMC1A	ENSP00000323421⁴	STRING: ENSP00000323421
SMC1B	ENSP00000350036⁴	STRING: ENSP00000350036

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006302	double-strand break repair	IEA	--
GO:0007059	chromosome segregation	IEA	--
GO:0007128	meiotic prophase I	ISS	--
GO:0007129	synapsis	IEA	--
GO:0007283	spermatogenesis	IEA	--

RAD21L1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Search CenterWatch for drugs/clinical trials and news about RAD21L1 / RD21L

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RAD21L1 gene:

NM_001136566.2

Unigene Cluster for RAD21L1:

RAD21-like 1 (S. pombe)

Hs.713451 [show with all ESTs]

Unigene Representative Sequence: BC157891

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000402452 ENST00000409241(uc010gab.1) ENST00000246108 ENST00000477283

ENST00000381882

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Additional cDNA sequence:

BC157891.1 BC171911.1

3 DOTS entries:

DT.120835004 DT.120835005 DT.75154938

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RAD21L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGATACCAA

About this image

RAD21L1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Primary Spermatocyte

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RAD21L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RAD21L1

SOURCE GeneReport for Unigene cluster: Hs.713451

SABiosciences Custom PCR Arrays for RAD21L1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD21L1 gene from 7/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RAD21L1¹	RAD21-like 1 (S. pombe)	61.5(n) 50.36(a)		419269 XM_417442.3 XP_417442.3
lizard (Anolis carolinensis)	Reptilia	RAD21L1⁶	--	49(a)	1 ↔ 1	GL343346.1(725710-752353)
zebrafish (Danio rerio)	Actinopterygii	rad21l1⁶	RAD21-like 1 (S. pombe)	39(a)	1 ↔ 1	8(51378350-51401489)
fruit fly (Drosophila melanogaster)	Insecta	vtd⁶	verthandi	27(a)	1 → many	3LHet(2243577-2265363)
worm (Caenorhabditis elegans)	Secernentea	scc-1⁶ coh-1⁶	COHesin family member (coh-1)	21(a) 20(a)	many ↔ many many ↔ many	II(4698718-4700991) X(7465903-7475249)
thale cress (Arabidopsis thaliana)	eudicotyledons	ATREC8⁶ ATRAD21.2⁶ (see all 4)	Sister chromatid cohesion 1 protein 3 (see all 4)	14(a) 14(a) (see all 4)	many ↔ many many ↔ many (see all 4)	5(1624206-1629269) 3(21997054-22000678)
rice (Oryza sativa)	Liliopsida	-- -- (see all 4)	Rad21 / Rec8 like protein, putative, expressed (see all 4)	14(a) 13(a) (see all 4)	many ↔ many many ↔ many (see all 4)	5(28826977-28834353) 8(10159235-10164703)

ENSEMBL Gene Tree for RAD21L1 (if available)
TreeFam Gene Tree for RAD21L1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RAD21L1 gene

RAD21²

2 SIMAP similar genes for RAD21L1 using alignment to 1 protein entry: RD21L_HUMAN:

RAD21L RAD21

RAD21L1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs185748173^1,2		--	1204831(+)	`AAAGAC/TCCCTC`	1	--	us2k¹		0	--	--	--	--
rs142200496^1,2		--	1204887(+)	`GACCAC/GTTTTG`	1	--	us2k¹		0	--	--	--	--
rs430731^1,2	C,F,	--	1205093(-)	`AACAGA/GGCCGC`	1	--	us2k¹		8		NA WA CSA EA	367
rs145952909^1,2		--	1205278(+)	`GATGGA/GCTTGC`	1	--	us2k¹		0	--	--	--	--
rs75350233^1,2	F,	--	1205497(+)	`AAAGGG/AGAAAA`	1	--	us2k¹		1		NA	120
rs76115200^1,2		--	1205762(+)	`TGTCCC/GCAAAG`	1	--	us2k¹		0	--	--	--	--
rs397020^1,2	C,F,A,H,	--	1205886(-)	`GTAGGG/ATATTG`	1	--	us2k¹		22		NS EA NA WA CSA	2344
rs58696255^1,2	C,	--	1205892(+)	`CCTACG/AGCGCG`	1	--	us2k¹		2		WA	120
rs78405220^1,2		--	1205895(+)	`ACGGCG/CCGAGT`	1	--	us2k¹		2		CSA WA	120
rs189865363^1,2		--	1206011(+)	`CATCAC/TAGGGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RAD21L1 (1206700 - 1277065 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RAD21L1
1 CNV: 50610
Human Gene Mutation Database (HGMD): RAD21L1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RAD21L1

DNA2.0 Custom Variant and Variant Library Synthesis for RAD21L1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RAD21L1 for disorders About GeneDecksing

1 disease for RAD21L1: About MalaCards

multiple sclerosis

Export disorders for RAD21L1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RAD21L1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RAD21L1)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Identification and molecular characterization of the mammalian alpha- kleisin RAD21L. (PubMed id 21527826)¹ Gutierrez-Caballero C.... Pendas A.M. (2011)
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)¹ Baranzini S.E....Oksenberg J.R. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 642636	HGNC: 16271	Ensembl:ENSG00000244588	euGenes: HUgn642636	ECgene: RAD21L1
H-InvDB: RAD21L1

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for RAD21L1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RAD21L1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RAD21L1 gene:
Search GeneIP for patents involving RAD21L1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for RAD21L1
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RAD21L1
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	GenScript Custom Purified and Recombinant Proteins Services for RAD21L1		GenScript cDNA clones with any tag delivered in your preferred vector for RAD21L1
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RAD21L1 gene at Home site.

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RAD21L1 Gene

RAD21-like 1 (S. pombe)

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RAD21L1 Gene

RAD21-like 1 (S. pombe)

Aliasesfor RAD21L1 gene

Summariesfor RAD21L1 gene

Genomic Viewsfor RAD21L1 gene

Proteinsfor RAD21L1 gene

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