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Protein

Spermatogenesis-associated protein 9

Gene

SPATA9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

May play a role in testicular development/spermatogenesis and may be an important factor in male infertility.1 Publication

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis-associated protein 9
Alternative name(s):
Testis development protein NYD-SP16
Gene namesi
Name:SPATA9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000145757.15
HGNCiHGNC:22988 SPATA9
MIMi608039 gene
neXtProtiNX_Q9BWV2

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei143 – 165HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi83890
OpenTargetsiENSG00000145757
PharmGKBiPA134900368

Polymorphism and mutation databases

BioMutaiSPATA9
DMDMi126253804

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002784461 – 254Spermatogenesis-associated protein 9Add BLAST254

Proteomic databases

PaxDbiQ9BWV2
PeptideAtlasiQ9BWV2
PRIDEiQ9BWV2
ProteomicsDBi79322
79323 [Q9BWV2-2]
79324 [Q9BWV2-3]

PTM databases

iPTMnetiQ9BWV2
PhosphoSitePlusiQ9BWV2

Expressioni

Tissue specificityi

Highly expressed in testes and pancreas. Low levels found in the heart, lungs, and brain. Very low expression detected in the placenta. No expression seen in skeletal muscle, liver, kidney, thymus, small intestine, colons, spleen, leukocytes, prostate gland, and ovary. In the adult testes, expression was about 6.44-fold higher than in the embryo testes. No expression in testes of patients with Sertoli-cell-only syndrome. In patients with arrest at spermatogonium and primary spermatocyte stages, no expression was detected. In patients with arrest at the spermatid stage, expression level was weak or absent. Variable expression was seen in patients with spermatogenic arrest.1 Publication

Gene expression databases

BgeeiENSG00000145757
CleanExiHS_SPATA9
ExpressionAtlasiQ9BWV2 baseline and differential
GenevisibleiQ9BWV2 HS

Organism-specific databases

HPAiHPA010848

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000274432

Structurei

3D structure databases

ProteinModelPortaliQ9BWV2
SMRiQ9BWV2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IN5C Eukaryota
ENOG4111D9E LUCA
GeneTreeiENSGT00390000014160
HOGENOMiHOG000154372
HOVERGENiHBG093978
InParanoidiQ9BWV2
OMAiIYLAVCV
OrthoDBiEOG091G0NXP
PhylomeDBiQ9BWV2
TreeFamiTF338769

Family and domain databases

InterProiView protein in InterPro
IPR031659 SPATA9
PANTHERiPTHR35669 PTHR35669, 1 hit
PfamiView protein in Pfam
PF15824 SPATA9, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BWV2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPIKPVGWIC GQVLKNFSGR IEGIQKAIMD LVDEFKDEFP TILRLSQSNQ
60 70 80 90 100
KREPAQKTSK IRMAIALAKI NRATLIRGLN SISRSSKSVA KLLHPQLACR
110 120 130 140 150
LLELRDISGR LLREVNAPRQ PLYNIQVRKG SLFEIISFPA KTALTSIIYA
160 170 180 190 200
SYAALIYLAV CVNAVLKKVK NIFQEEESIR QNREESENCR KAFSEPVLSE
210 220 230 240 250
PMFAEGEIKA KPYRSLPEKP DISDYPKLLA NKQSNNIQVL HSVFDQSAEM

NEQI
Length:254
Mass (Da):28,740
Last modified:February 20, 2007 - v2
Checksum:i045740C381DDFB7D
GO
Isoform 2 (identifier: Q9BWV2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     51-126: Missing.

Note: No experimental confirmation available.
Show »
Length:178
Mass (Da):20,172
Checksum:i5AF98A19E2DBEF26
GO
Isoform 3 (identifier: Q9BWV2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-135: VRKGSLFEI → EKKMGLQLS
     136-254: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:135
Mass (Da):15,275
Checksum:i078860297178E963
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24I → V in BAC04101 (PubMed:14702039).Curated1
Sequence conflicti98A → T in AAK16746 (PubMed:12493713).Curated1
Sequence conflicti102L → S in BAF85027 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051375209K → E1 PublicationCorresponds to variant dbSNP:rs34297786Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02328251 – 126Missing in isoform 2. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_023283127 – 135VRKGSLFEI → EKKMGLQLS in isoform 3. 1 Publication9
Alternative sequenceiVSP_023284136 – 254Missing in isoform 3. 1 PublicationAdd BLAST119

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY027526 mRNA Translation: AAK16746.1
AK093225 mRNA Translation: BAC04101.1
AK292338 mRNA Translation: BAF85027.1
BC032832 mRNA Translation: AAH32832.1
BC047333 mRNA Translation: AAH47333.1
CCDSiCCDS4076.1 [Q9BWV2-1]
RefSeqiNP_114158.2, NM_031952.3 [Q9BWV2-1]
XP_011541968.1, XM_011543666.1 [Q9BWV2-2]
XP_016865437.1, XM_017009948.1 [Q9BWV2-1]
UniGeneiHs.50499

Genome annotation databases

EnsembliENST00000274432; ENSP00000274432; ENSG00000145757 [Q9BWV2-1]
ENST00000316087; ENSP00000325491; ENSG00000145757 [Q9BWV2-1]
ENST00000477715; ENSP00000427257; ENSG00000145757 [Q9BWV2-2]
ENST00000489917; ENSP00000420883; ENSG00000145757 [Q9BWV2-3]
GeneIDi83890
KEGGihsa:83890
UCSCiuc003kli.2 human [Q9BWV2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSPAT9_HUMAN
AccessioniPrimary (citable) accession number: Q9BWV2
Secondary accession number(s): A8K8H3
, Q4G122, Q86X33, Q8NA28
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: June 20, 2018
This is version 98 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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