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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPAG17 Gene

protein-coding GIFtS: 44
GCID: GC01M118496

sperm associated antigen 17

Explore 4 diseases affiliated with
SPAG17 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
Sperm Associated Antigen 17¹ ²
PF6¹ ²
RP4-776P7.2¹ ²
Projection Protein PF6 Homolog² ³
FLJ34497¹
Sperm-Associated Antigen 17²

External Ids:	HGNC: 26620¹	Entrez Gene: 200162²	Ensembl: ENSG00000155761⁷	UniProtKB: Q6Q759³

Export aliases for SPAG17 gene to outside databases

Previous GC identifers: GC01M118209 GC01M118297 GC01M116352

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

UniProtKB/Swiss-Prot: SPG17_HUMAN, Q6Q759

Function: Seems to be important for the structural integrity of the central apparatus of the sperm axoneme (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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPAG17 gene promoter:
TBP Pbx1a NCX/Ncx Nkx2-5 HNF-3beta Cdc5 Meis-1b Roaz S8 Meis-1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPAG17 promoter sequence

Search SABiosciences Chromatin IP Primers for SPAG17

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAG17

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

Entrez Gene cytogenetic band: 1p12 Ensembl cytogenetic band: 1p12 HGNC cytogenetic band: 1p12

SPAG17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG17 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M118496: view genomic region (about GC identifiers)

Start:	118,496,288 bp from pter	End:	118,727,848 bp from pter
Size:	231,561 bases	Orientation:	minus 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: SPG17_HUMAN, Q6Q759 (See protein sequence)

Recommended Name: Sperm-associated antigen 17

Size: 2223 amino acids; 251742 Da

Subunit: Interacts (via the C-terminus) with SPAG6; the interaction probably occurs on polymerized microtubules (By

similarity)

Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton, flagellum axoneme (By similarity).

Note=Detected in the cytoplasm of round spermatids and in condensing spermatids. Localized to the central pair of the

sperm flagellar axoneme. Colocalizes with SPAG6 on microtubules (By similarity)

Secondary accessions: Q8NAZ1 Q9NT21

Explore the universe of human proteins at neXtProt for SPAG17: NX_Q6Q759

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6Q759

SPAG17 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_996879.1

ENSEMBL proteins:

ENSP00000337804 ENSP00000402749

Human Recombinant Protein Products for SPAG17:

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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:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005874	microtubule	IEA	--
GO:0005929	cilium	IEA	--

SPAG17 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

SPAG17 for domains About GeneDecksing

1 InterPro domain/family:

IPR026173 SPAG17

Graphical View of Domain Structure for InterPro Entry Q6Q759

ProtoNet protein and cluster: Q6Q759

(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

Molecular Function:

UniProtKB/Swiss-Prot Summary: SPG17_HUMAN, Q6Q759

Function: Seems to be important for the structural integrity of the central apparatus of the sperm axoneme (By

similarity)

Animal Models:

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In Situ Assay
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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:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SPAG17

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for SPAG17 (Q6Q759³ ENSP00000337804⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SPAG6	O75602³, ENSP00000365811⁴	I2D: score=1 STRING: ENSP00000365811

About this table

(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 SPAG17
Search CenterWatch for drugs/clinical trials and news about SPAG17 / SPG17

(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 SPAG17 gene:

NM_206996.2

Unigene Cluster for SPAG17:

Sperm associated antigen 17

Hs.528821 [show with all ESTs]

Unigene Representative Sequence: NM_206996

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

ENST00000466857 ENST00000478697 ENST00000336338(uc021oss.1 uc001ehk.2)

ENST00000469128 ENST00000437255(uc021osr.1) ENST00000492438 ENST00000483383

ENST00000470550 ENST00000486589 ENST00000477444 ENST00000473472 ENST00000463628

ENST00000465053

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Additional cDNA sequence:

AK055194.1 AK091816.1 AK126319.1 AK126327.1 AL137581.1 AL833485.1 AY555274.1 BC043251.1

BX648110.1 HM370394.1

9 DOTS entries:

DT.206431 DT.40117863 DT.95260087 DT.423063 DT.75167734 DT.40299735 DT.99996169 DT.121463804

DT.40122681

24/46 AceView cDNA sequences (see all 46):

AW976069 NM_206996 AK126327 AY555274 BG195042 AA608775 AK126319 AW628528

AI806349 BQ013718 BM983923 AI015914 AL137581 BX282623 AI791173 AA970955

AA669516 AW104397 AI635670 BU101789 AI871833 BX282504 AL042513 CA313637

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

SPAG17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTCGTAAAG

About this image

SPAG17 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 SPAG17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPAG17

SOURCE GeneReport for Unigene cluster: Hs.528821

UniProtKB/Swiss-Prot: SPG17_HUMAN, Q6Q759

Tissue specificity: Highly expressed in testis. Expressed in organs that contain cilia-bearing cells including brain,

oviduct, lung, and uterus

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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 SPAG17 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spag17^{1 , 5}	sperm associated antigen 17^{1, 5}	78.7(n)¹ 73.15(a)¹		3 (43.25 cM)⁵ 74362¹ NM_028892.4¹ NP_083168.3¹ 99885406⁵
chicken (Gallus gallus)	Aves	SPAG17¹	sperm associated antigen 17	60.18(n) 50.95(a)		418315 XM_416538.3 XP_416538.3
lizard (Anolis carolinensis)	Reptilia	SPAG17⁶	--	48(a)	1 ↔ 1	GL343218.1(768367-859960)
zebrafish (Danio rerio)	Actinopterygii	si:dkey-208b23.5¹	si:dkey-208b23.5	52.36(n) 40.74(a)		561115 XM_684518.4 XP_689610.4

ENSEMBL Gene Tree for SPAG17 (if available)
TreeFam Gene Tree for SPAG17 (if available)

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

(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
				--	--	--		--	--
rs187283742^1,2		--	118503557(+)	`TTTTTA/CATCTG`	1	--	int¹		0	--	--	--	--
rs72697556^1,2	C,F	--	118503584(+)	`TTCAGA/GTCTCC`	1	--	int¹		1		NA	120
rs146513628^1,2		--	118503766(+)	`CTGGGC/TGTGGT`	1	--	int¹		0	--	--	--	--
rs190128762^1,2		--	118503777(+)	`GGCAGA/GCGCTT`	1	--	int¹		0	--	--	--	--
rs78129391^1,2	C	--	118503821(+)	`GAATCG/ACTTGA`	1	--	int¹		1		CSA	1
rs7522739^1,2	C	--	118503830(+)	`gaaccC/Tggcag`	1	--	int¹		1		WA	2
rs77483401^1,2	C	--	118503837(+)	`GCAGGC/TGGAGA`	1	--	int¹		2		WA	120
rs111899509^1,2		--	118503860(+)	`AAGACA/GGTGCC`	1	--	int¹		2		CSA WA	120
rs151185496^1,2		--	118503912(+)	`CAAAAC/TAATAA`	1	--	int¹		0	--	--	--	--
rs140317117^1,2		--	118503973(+)	`TTCAAC/TGGATT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPAG17 (118496288 - 118727848 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for SPAG17
2 CNVs: 97482 47888
1 Indel: 59948
Human Gene Mutation Database (HGMD): SPAG17

SABiosciences Cancer Mutation PCR Assays

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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

SPAG17 for disorders About GeneDecksing

4 diseases for SPAG17: About MalaCards

pediatric crohns disease crohn's disease thyroid cancer thyroiditis

Human Genome Epidemiology (HuGE) Navigator: SPAG17 (6 documents)

Export disorders for SPAG17 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 SPAG17 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with SPAG17)

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

Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16. (PubMed id 15827353)^{1, 2} Zhang Z.... Strauss J.F. III (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)¹ Zhao J....Grant S.F. (2010)
Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)¹ Lango Allen H....Hirschhorn J.N. (2010)
Identification of 15 loci influencing height in a Kor ean population. (PubMed id 19893584)¹ Kim J.J....Lee J.K. (2010)
Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)¹ Lee J.J....Hirschhorn J. (2010)
Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. (PubMed id 19266077)¹ Sovio U....Jarvelin M.R. (2009)
Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)¹ Weedon M.N....Frayling T.M. (2008)
Strong association of chromosome 1p12 loci with thyroid cancer susceptibility. (PubMed id 18559567)¹ Baida A....Velazquez A. (2008)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)

(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: 200162	HGNC: 26620	AceView: PF6	Ensembl:ENSG00000155761	euGenes: HUgn200162
ECgene: SPAG17	H-InvDB: SPAG17

(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 SPAG17	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPAG17 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPAG17 gene:
Search GeneIP for patents involving SPAG17

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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	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPAG17		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPAG17
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPAG17
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SPAG17

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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
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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

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

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SPAG17 Gene

sperm associated antigen 17

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SPAG17 Gene

sperm associated antigen 17

Aliasesfor SPAG17 gene

Summariesfor SPAG17 gene

Genomic Viewsfor SPAG17 gene

Proteinsfor SPAG17 gene

Protein Domains /Familiesfor SPAG17 gene

Functionfor SPAG17 gene

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for SPAG17 gene

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for SPAG17 gene

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for SPAG17 gene

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