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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPATA1 Gene

protein-coding GIFtS: 34
GCID: GC01P084971

spermatogenesis associated 1

Search for SPATA1
in

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 1¹ ²
SP-2¹ ²
Sperm-Specific Protein SP-2² ³
SPAP1²
Spermatogenesis Associated Protein 1²
Spermatogenesis-Associated Protein 1²

External Ids:	HGNC: 14682¹	Entrez Gene: 100505741²	Ensembl: ENSG00000122432⁷	UniProtKB: Q5VX52³

Export aliases for SPATA1 gene to outside databases

Previous GC identifers: GC01M085538 GC01P084109 GC01P084260 GC01P084394 GC01P084684 GC01P084744

(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 NT_032977.9 NC_018912.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPATA1 gene promoter:
Nkx3-1 Nkx3-1 v4 Nkx3-1 v1 C/EBPalpha Nkx3-1 v2 AREB6 CHOP-10 NF-AT4 NF-AT3 Nkx3-1 v3
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA1

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

Entrez Gene cytogenetic band: 1p22.3 Ensembl cytogenetic band: 1p22.3 HGNC cytogenetic band: 1p22.3

SPATA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P084971: view genomic region (about GC identifiers)

Start:	84,971,974 bp from pter	End:	85,031,877 bp from pter
Size:	59,904 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: SPAT1_HUMAN, Q5VX52 (See protein sequence)

Recommended Name: Spermatogenesis-associated protein 1

Size: 437 amino acids; 50307 Da

Sequence caution: Sequence=AAG22047.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAI19642.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI19643.1;

Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI27635.1; Type=Erroneous initiation;

Note=Translation N-terminally shortened; Sequence=CAH70205.2; Type=Erroneous initiation; Note=Translation N-terminally

shortened; Sequence=CAM13069.1; Type=Erroneous gene model prediction;

Secondary accessions: A0PJU9 Q0VDJ9 Q0VDK0 Q6P386 Q9HAR4

Alternative splicing: 3 isoforms: Q5VX52-1 Q5VX52-2 Q5VX52-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPATA1: NX_Q5VX52

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5VX52

SPATA1 Protein expression data from MOPED and PaxDb: About this image

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

ProtoNet protein and cluster: Q5VX52

(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

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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 SPATA1

(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

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(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 SPATA1 gene (2 alternative transcripts):

NM_001081472.1 NM_022354.1

Unigene Cluster for SPATA1:

Spermatogenesis associated 1

Hs.584956 [show with all ESTs]

Unigene Representative Sequence: BC119642

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

ENST00000370638(uc001djx.3) ENST00000484939 ENST00000490879(uc001djy.2)

ENST00000468437 ENST00000431031 ENST00000554297 ENST00000485121 ENST00000473108

ENST00000460286 ENST00000263717(uc021opb.1)

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Additional cDNA sequence:

BC119641.1 BC119642.1

7 DOTS entries:

DT.91751364 DT.91974728 DT.75160642 DT.95148407 DT.95231208 DT.97809837 DT.121427686

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

SPATA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACTATAAG

About this image

SPATA1 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)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SPATA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPATA1

SOURCE GeneReport for Unigene cluster: Hs.584956

SABiosciences Custom PCR Arrays for SPATA1

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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 SPATA1 gene from 2/4 species (see all 4) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spata1^{1 , 5}	spermatogenesis associated 1^{1, 5}	85.85(n)¹ 78.66(a)¹		3 (71.30 cM)⁵ 70951¹ NM_027617.3¹ NP_081893.1¹ 146457203⁵
chicken (Gallus gallus)	Aves	SPATA1¹	spermatogenesis associated 1	66.28(n) 56.07(a)		424537 XM_422374.3 XP_422374.2

ENSEMBL Gene Tree for SPATA1 (if available)
TreeFam Gene Tree for SPATA1 (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	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113254401^1,2		--	83085206(+)	`ATACAT/CTGGAG`	1	--	int¹		2	CSA WA	120
rs113259471^1,2	C,	--	83085818(+)	`GCTTAC/TGCTTG`	1	--	int¹		1	WA	2
rs11163989^1,2	C,	--	83085864(+)	`TTTCTC/TGAACC`	1	--	int¹		3	WA NA	240
rs76032282^1,2	C,	--	83086384(+)	`TTTATC/TGAAAA`	1	--	int¹		2	NA	4
rs1246156^1,2	F,H,	--	83086527(+)	`cttcaG/Ctatgt`	1	--	int¹		7	NS EA NA WA	540
rs12021885^1,2	H	--	83086534(+)	`atgtcC/Tcagga`	1	--	int¹		4	NS EA	420
rs1246157^1,2		--	83087611(+)	`ctcttG/Tttgcc`	1	--	int¹		2	NA	4
rs112597592^1,2		--	83087866(+)	`CACCGC/TGCCTG`	1	--	int¹		1	CSA	2
rs12086533^1,2	H,	--	83088399(+)	`GCCATA/GTTATC`	1	--	int¹		4	NS EA	420
rs72948475^1,2	C,	--	83088429(+)	`AATTAC/TGAGAA`	1	--	int¹		2	WA	120

HapMap Linkage Disequilibrium report for SPATA1 (84971974 - 85031877 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for SPATA1
2 CNVs: 84347 84345
3 Indels: 84349 74554 74553

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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

SPATA1 for disorders About MalaCards

SPATA1 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: SPATA1 (1 document)

Export disorders for SPATA1 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 SPATA1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SPATA1)

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

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)
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)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (2001)
Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)¹ Harrington J.J.... Ducar M. (2001)
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: 100505741	HGNC: 14682	Ensembl:ENSG00000122432	euGenes: HUgn100505741	ECgene: SPATA1
H-InvDB: SPATA1

(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 SPATA1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPATA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPATA1 gene:
Search GeneIP for patents involving SPATA1

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

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spermatogenesis associated 1

Aliases
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Expression
for SPATA1 gene

Orthologs
for SPATA1 gene

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for SPATA1 gene

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for SPATA1 gene

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for SPATA1 gene

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for SPATA1 gene

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SPATA1 Gene

spermatogenesis associated 1

Aliasesfor SPATA1 gene

Summariesfor SPATA1 gene

Genomic Viewsfor SPATA1 gene

Proteinsfor SPATA1 gene

Protein Domains /Familiesfor SPATA1 gene

Functionfor SPATA1 gene

Pathways & Interactionsfor SPATA1 gene

Drugs & Compoundsfor SPATA1 gene

Transcriptsfor SPATA1 gene

Expression for SPATA1 gene

Orthologsfor SPATA1 gene

Paralogsfor SPATA1 gene

Genomic Variantsfor SPATA1 gene

Disorders / Diseasesfor SPATA1 gene

Publicationsfor SPATA1 gene

External Searches for SPATA1 gene

Genome Databases showing SPATA1 gene

Other Databases showing SPATA1 gene

Specialized Databases showing SPATA1 gene

Intellectual Propertyfor SPATA1 gene

Productsfor SPATA1 gene

View Random Gene

Aliases
for SPATA1 gene

Summaries
for SPATA1 gene

Genomic Views
for SPATA1 gene

Proteins
for SPATA1 gene

Protein Domains /
Families
for SPATA1 gene

Function
for SPATA1 gene

Pathways & Interactions
for SPATA1 gene

Drugs & Compounds
for SPATA1 gene

Transcripts
for SPATA1 gene

Expression
for SPATA1 gene

Orthologs
for SPATA1 gene

Paralogs
for SPATA1 gene

Genomic Variants
for SPATA1 gene

Disorders / Diseases
for SPATA1 gene

Publications
for SPATA1 gene

Intellectual Property
for SPATA1 gene

Products
for SPATA1 gene