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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPATA17 Gene

protein-coding GIFtS: 45
GCID: GC01P217804

spermatogenesis associated 17

Explore 4 diseases affiliated with
SPATA17 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
Spermatogenesis Associated 17¹ ²		RP11-144C20.1²
IQCH¹ ²		IQ Motif Containing H²
MSRG11² ⁵		Spermatogenesis-Associated Protein 17²
MSRG-11²		Spermatogenesis-Related Protein 11²

External Ids:	HGNC: 25184¹	Entrez Gene: 128153²	Ensembl: ENSG00000162814⁷	OMIM: 611032⁵	UniProtKB: Q96L03³

Export aliases for SPATA17 gene to outside databases

Previous GC identifers: GC01P215871 GC01P188479

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

(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_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPATA17 gene promoter:
MIF-1 RelA CUTL1 NF-kappaB E2F-1 E2F FOXO4 c-Jun Pax-4a NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPATA17 promoter sequence

Search SABiosciences Chromatin IP Primers for SPATA17

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA17

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

Entrez Gene cytogenetic band: 1q41 Ensembl cytogenetic band: 1q41 HGNC cytogenetic band: 1q41

SPATA17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA17 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P217804: view genomic region (about GC identifiers)

Start:	217,804,666 bp from pter	End:	218,045,038 bp from pter
Size:	240,373 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: SPT17_HUMAN, Q96L03 (See protein sequence)

Recommended Name: Spermatogenesis-associated protein 17

Size: 361 amino acids; 43499 Da

Subcellular location: Cytoplasm (By similarity)

Secondary accessions: A5D6N2

Explore the universe of human proteins at neXtProt for SPATA17: NX_Q96L03

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96L03

SPATA17 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_620151.1

ENSEMBL proteins:

ENSP00000355900

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

SPATA17 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

SPATA17 for domains About GeneDecksing

1 InterPro domain/family:

IPR000048 IQ_motif_EF-hand-BS

Graphical View of Domain Structure for InterPro Entry Q96L03

ProtoNet protein and cluster: Q96L03

UniProtKB/Swiss-Prot: SPT17_HUMAN, Q96L03

Similarity: Contains 3 IQ domains

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

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005516	calmodulin binding	IEA	--

SPATA17 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for SPATA17:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:

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(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 SPATA17

(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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPATA17
Search CenterWatch for drugs/clinical trials and news about SPATA17 / SPT17

(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,
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About This Section

REFSEQ mRNAs for SPATA17 gene:

NM_138796.2

Unigene Cluster for SPATA17:

Spermatogenesis associated 17

Hs.171130 [show with all ESTs]

Unigene Representative Sequence: AY963797

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

ENST00000366933(uc009xdr.1 uc001hlh.1) ENST00000470448 ENST00000492747

ENST00000471021 ENST00000491809

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Additional cDNA sequence:

AK098591.1 AK310291.1 AY963797.1 BC014608.2

13 DOTS entries:

DT.95264778 DT.100776697 DT.92445459 DT.92445456 DT.121444153 DT.92445458 DT.95264779 DT.121444191

DT.121444206 DT.442973 DT.92445448 DT.92445450 DT.92445451

24/117 AceView cDNA sequences (see all 117):

AA905508 CK725062 BG191922 AK098591 AI091492 CR597267 NM_138796 CA312581

BG211956 BU687408 AI860124 BX440327 BC014608 BG207941 AI219494 BG214755

BX430921 BG720774 BG219461 AA449329 BG214684 BG182501 BI464439 BG187208

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

SPATA17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGCTGCAA

About this image

SPATA17 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SPATA17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPATA17

SOURCE GeneReport for Unigene cluster: Hs.171130

SABiosciences Custom PCR Arrays for SPATA17

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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 chordates.

Orthologs for SPATA17 gene from 4/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spata17^{1 , 5}	spermatogenesis associated 17^{1, 5}	77.56(n)¹ 76.18(a)¹		1 (90.23 cM)⁵ 74717¹ NM_028848.3¹ NP_083124.1¹ 187044648⁵
chicken (Gallus gallus)	Aves	SPATA17¹	spermatogenesis associated 17	67.22(n) 57.89(a)		421354 XM_419414.3 XP_419414.1
lizard (Anolis carolinensis)	Reptilia	SPATA17⁶	--	53(a)	1 ↔ 1	1(242029140-242096082)
zebrafish (Danio rerio)	Actinopterygii	spata17¹	spermatogenesis associated 17	54.74(n) 49.01(a)		799739 NM_001142264.1 NP_001135736.1

ENSEMBL Gene Tree for SPATA17 (if available)
TreeFam Gene Tree for SPATA17 (if available)

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

Paralogs for SPATA17 gene

SPATA17 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for SPATA17
PGOHUM00000243173 PGOHUM00000243174

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35543961^1,2	C	--	217811657(+)	`GAAAT-/AAGTGTT`	1	--	int¹		2		NA	4
rs35299208^1,2	C	--	217817078(+)	`TTTTT-/TAGATG`	1	--	int¹		3		NA CSA	6
rs34501876^1,2	C	--	217823076(+)	`TTTTT-/TCAGTG`	1	--	int¹		1		NA	2
rs34166363^1,2	C	--	217837632(+)	`TTTTT-/TTTTTT`	1	--	int¹		1		NA	2
rs72282638^1,2	C	--	217900624(+)	`TAATA-/ATAAT AACAA`	1	--	int¹		0	--	--	--	--
rs200289654^1,2		--	217900627(+)	`TAATA-/ATAACAA`	1	--	int¹		0	--	--	--	--
rs192939956^1,2		--	217917708(+)	`GCTGAA/GGCAGG`	1	--	int¹		0	--	--	--	--
rs111590066^1,2	C	--	217929665(+)	`TGTGGT/-TTTTT`	1	--	int¹		1		CSA	2
rs35735781^1,2	C	--	217936740(+)	`GATGG-/AAAAAA`	1	--	int¹		2		NA	4
rs148148820^1,2	C	--	217940063(+)	`TTCTC-/TTTTTTT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPATA17 (217804666 - 218045038 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SPATA17
2 Indels: 24065 60933

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(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

SPATA17 for disorders           About GeneDecksing

OMIM gene information: 611032    OMIM disorders: --

4 diseases for SPATA17:    About MalaCards

sertoli cell-only syndrome bulimia nervosa cryptorchidism malaria

2 diseases from the University of Copenhagen DISEASES database for SPATA17:

Sertoli cell-only syndrome Eating disorder

Human Genome Epidemiology (HuGE) Navigator: SPATA17 (2 documents)

Export disorders for SPATA17 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 SPATA17 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SPATA17)

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

Expression and identification of a novel apoptosis gene Spata17 (MSRG-11) in mouse spermatogenic cells. (PubMed id 16395525)^{1, 3} Deng Y....Lu G.X. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} 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)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest. (PubMed id 19483714)¹ Miyamoto T....Sengoku K. (2009)
Identification of novel candidate loci for anorexia n ervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers. (PubMed id 19680270)¹ Nakabayashi K....Shirasawa S. (2009)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)¹ Olsen J.V....Mann M. (2006)
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)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(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: 128153	HGNC: 25184	AceView: LOC128153	Ensembl:ENSG00000162814	euGenes: HUgn128153
ECgene: SPATA17	H-InvDB: SPATA17

(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 SPATA17	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPATA17 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPATA17 gene:
Search GeneIP for patents involving SPATA17

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section


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	GenScript Custom Purified and Recombinant Proteins Services for SPATA17		GenScript cDNA clones with any tag delivered in your preferred vector for SPATA17
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA17

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPATA17

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SPATA17

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 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 SPATA17 gene at Home site.

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SPATA17 Gene

spermatogenesis associated 17

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SPATA17 Gene

spermatogenesis associated 17

Aliasesfor SPATA17 gene

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Protein Domains /Familiesfor SPATA17 gene

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for SPATA17 gene

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for SPATA17 gene

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for SPATA17 gene

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for SPATA17 gene

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for SPATA17 gene

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for SPATA17 gene

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for SPATA17 gene

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