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SAMD11 Gene

protein-coding GIFtS: 44

GC01P000850

sterile alpha motif domain containing 11
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
MGC45873 ^¹, ²

Descriptions
sterile alpha motif domain containing 11 ^²

External Ids
HGNC: 28706¹
Entrez Gene: 148398²
UniProtKB: Q96NU1³
Ensembl: ENSG00000187634⁷

Search outside databases for aliases for SAMD11 gene

Previous GC identifer: GC01P000914

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

UniProtKB/Swiss-Prot: SAM11_HUMAN, Q96NU1

Function: May play a role in photoreceptor development (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

Entrez Gene cytogenetic band: 1p36.33 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36.33

SAMD11 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 1 GeneLoc Exon Structure

GeneLoc location for GC01P000850: (about GC identifiers)

Start:	850,393 bp from pter
End:	869,824 bp from pter
Size:	19,432 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_004350.18

(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: SAM11_HUMAN, Q96NU1 (See protein sequence)

Recommended Name: Sterile alpha motif domain-containing protein 11

Size: 681 amino acids; 72708 Da

Subunit: Homodimer (By similarity)

Subcellular location: Nucleus (By similarity)

Sequence caution: Sequence=AAH24295.1; Type=Frameshift; Positions=129; Sequence=CAI15563.3;

Type=Erroneous gene model prediction; Sequence=CAI15564.3; Type=Erroneous gene model prediction;

Secondary accessions: A2AA76 Q5SV96 Q5SV99 Q5SVA0 Q8N195 Q8TB59

Alternative splicing: 3 isoforms: Q96NU1-3 Q96NU1-1 Q96NU1-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_689699.2

ENSEMBL proteins:

ENSP00000342313 ENSP00000349216

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	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 (SAMD11)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

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 SAMD11:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	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)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for SAMD11

Assays for SAMD11:

	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 Q96NU1

ProtoNet protein and cluster: Q96NU1

2 Blocks protein families:

IPB001660 Sterile alpha motif SAM

IPB011510 Sterile alpha motif homology 2

UniProtKB/Swiss-Prot: SAM11_HUMAN, Q96NU1

Similarity: Contains 1 SAM (sterile alpha motif) domain

(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 (SAMD11)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152486

Applied Biosystems Silencer® siRNAs for SAMD11

Sigma-Aldrich siRNA for SAMD11

Sigma-Aldrich shRNA for SAMD11

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SAMD11
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_152486
Myc/DDK tagged cDNA clone in CMV expression vector: NM_152486
untagged cDNA clone in CMV expression vector: NM_152486

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_152486

UniProtKB/Swiss-Prot: SAM11_HUMAN, Q96NU1

Function: May play a role in photoreceptor development (By similarity)

(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.)
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(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 SAMD11

(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 (SAMD11)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152486

Sigma-Aldrich siRNA for SAMD11

Sigma-Aldrich shRNA for SAMD11

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_152486

REFSEQ mRNAs for SAMD11 gene:

NM_152486.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_152486

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_152486
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_152486
                                 untagged cDNA clone in CMV expression vector: NM_152486

Additional cDNA sequence:

BC024295.2 BC033213.1

9 DOTS entries:

DT.100812602 DT.431656 DT.92449043 DT.100812601 DT.91667087 DT.100812599 DT.40125956 DT.97855405

DT.121329402

24/69 AceView cDNA sequences (see all 69 ):

CA396407 CA389330 BM055344 CD672892 BU732060 BM708219 BQ070703 CK820075

BM052997 BQ670036 AW328623 BM876494 AK054643 BM876236 BC024295 BQ940315

BU955824 BQ636129 BC033213 BU688963 BE515227 BM974010 BM972064 BQ574434

highest scoring ESTs for SAMD11:

AI080027 AI266034 BC024295 BM354113 BM739876 BM857575 BM876236 BM972064 BM974010 BQ574434

Unigene Cluster for SAMD11:

Sterile alpha motif domain containing 11

Hs.335293 [show with all ESTs]

Unigene Representative Sequence: NM_152486

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SAMD11

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10a	·	10b	·	10c
SP1:					-
SP2:
SP3:
SP4:																									-
SP5:

About this scheme

ECgene alternative splicing isoforms for SAMD11

2 Ensembl transcripts including schematic representations:

ENST00000342066 ENST00000341065

(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

SAMD11 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SAMD11

¹ / ² / ³

1 probe-set matching SAMD11 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
	1560477_a_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: CTGAAAAATA

SOURCE GeneReport for Unigene cluster: Hs.335293

(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 SAMD11 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SAMD11¹	--	sterile alpha motif domain containing 11	86.14(n) 86.14(a)	479576 XM_536715.2 XP_536715.2
chimpanzee (Pan troglodytes)	SAMD11¹	--	sterile alpha motif domain containing 11	92.9(n) 90.54(a)	746854 XM_001155081.1 XP_001155081.1
rat (Rattus norvegicus)	RGD1310271¹	--	similar to hypothetical protein MGC45873	77.99(n) 75.19(a)	313778 XM_233727.4 XP_233727.4
mouse (Mus musculus)	Samd11⁵	4	sterile alpha motif domain containing 11	--	BC026991
chicken (Gallus gallus)	SAMD11¹	--	sterile alpha motif domain containing 11	68.36(n) 62.98(a)	419434 NM_001030877.1 NP_001026048.1

About this table Species with no ortholog for SAMD11

ENSEMBL Gene Tree for SAMD11

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

Paralogs for SAMD11 gene

SAMD7²

Pseudogenes

1 related pseudogene

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

10/165 NCBI SNPs in SAMD11 are shown (see all 165 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 123)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs6672356^1,2	C	867694(+)	`TCGCCC/TGGCAG`	1	R/W	mis¹		0	--	--	--	--
	rs2340590^1,2	A,C	854589(-)	`TTCTCA/TCAGGG`	1	--	int¹		0	--	--	--	--
	rs1110052^1,2	A,C	863421(+)	`AATGGG/TTGCGG`	1	--	int¹		0	--	--	--	--
	rs6680268^1,2	C	852246(+)	`CGTAGC/TCAGGG`	1	--	int¹		0	--	--	--	--
	rs13302982^1,2	C	851671(+)	`ACAGCA/GTTTTG`	1	--	int¹		0	--	--	--	--
--	rs2340589^1,2	A	854618(-)	`TCCCCC/TGTTCC`	1	--	int¹		0	--	--	--	--
--	rs7410998^1,2	C	853419(+)	`atcacA/Gaggtc`	1	--	int¹		0	--	--	--	--
	rs9988021^1,2	C	856182(+)	`CCAGCA/GGGGCA`	1	--	int¹		0	--	--	--	--
--	rs6693546^1,2	C	852252(+)	`CAGGGA/GGCTGG`	1	--	int¹		0	--	--	--	--
--	rs7410984^1,2	C	853371(+)	`gtggcG/Tcatgc`	1	--	int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for SAMD11 (up to first 250kb)

(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

(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

5 PubMed articles for SAMD11 gene:

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{3, 4} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{2, 3} Strausberg R.L....Marra M.A. (2002)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)³ Brandenberger R.... Stanton L.W. (2004)

(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)
About This Section

Entrez Gene: 148398	HGNC: 28706	AceView: SAMD11	Ensembl:ENSG00000187634	euGenes: HUgn148398
ECgene: SAMD11	H-InvDB: SAMD11

(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 SAMD11
(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)
About This Section

Products for SAMD11:

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 SAMD11-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 SAMD11		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for SAMD11		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (SAMD11)
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Search Novus for antibodies for SAMD11

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SAMD11 Gene

protein-coding GIFtS: 44

Aliases &
Descriptions
for SAMD11

Summaries
for SAMD11

Genomic Location
for SAMD11

Proteins
for SAMD11

Protein Domains/
Families
for SAMD11

Gene Function
for SAMD11

Pathways & Interactions
for SAMD11

Drugs & Compounds
for SAMD11

Transcripts
for SAMD11

Expression
for SAMD11

Orthologs
for SAMD11

Paralogs
for SAMD11

SNPs/Variants
for SAMD11

Disorders & Mutations
for SAMD11

Medical News
for SAMD11

Publications
for SAMD11

Search for SAMD11

Genome Databases showing SAMD11

Other Databases showing SAMD11

Specialized Databases showing SAMD11

Licensable Technologies
for SAMD11

Services
for SAMD11

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

SAMD11 Gene

protein-coding GIFtS: 44

Aliases & Descriptionsfor SAMD11

Summariesfor SAMD11

Genomic Locationfor SAMD11

Proteinsfor SAMD11

Protein Domains/Familiesfor SAMD11

Gene Functionfor SAMD11

Pathways & Interactionsfor SAMD11

Drugs & Compoundsfor SAMD11

Transcriptsfor SAMD11

Expression for SAMD11

Orthologsfor SAMD11

Paralogsfor SAMD11

SNPs/Variantsfor SAMD11

Disorders & Mutationsfor SAMD11

Medical Newsfor SAMD11

Publicationsfor SAMD11

Search for SAMD11

Genome Databases showing SAMD11

Other Databases showing SAMD11

Specialized Databases showing SAMD11

Licensable Technologiesfor SAMD11

Servicesfor SAMD11

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 SAMD11

Summaries
for SAMD11

Genomic Location
for SAMD11

Proteins
for SAMD11

Protein Domains/
Families
for SAMD11

Gene Function
for SAMD11

Pathways & Interactions
for SAMD11

Drugs & Compounds
for SAMD11

Transcripts
for SAMD11

Expression
for SAMD11

Orthologs
for SAMD11

Paralogs
for SAMD11

SNPs/Variants
for SAMD11

Disorders & Mutations
for SAMD11

Medical News
for SAMD11

Publications
for SAMD11

Licensable Technologies
for SAMD11

Services
for SAMD11