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Protein

Spermatogenesis-associated protein 9

Gene

SPATA9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, 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

HGNCiHGNC:22988. SPATA9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei143 – 16523HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134900368.

Polymorphism and mutation databases

BioMutaiSPATA9.
DMDMi126253804.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 254254Spermatogenesis-associated protein 9PRO_0000278446Add
BLAST

Proteomic databases

PaxDbiQ9BWV2.
PeptideAtlasiQ9BWV2.
PRIDEiQ9BWV2.

PTM databases

PhosphoSiteiQ9BWV2.

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.
GenevisibleiQ9BWV2. HS.

Organism-specific databases

HPAiHPA010848.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000274432.

Structurei

3D structure databases

ProteinModelPortaliQ9BWV2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IN5C. Eukaryota.
ENOG4111D9E. LUCA.
GeneTreeiENSGT00390000014160.
HOGENOMiHOG000154372.
HOVERGENiHBG093978.
InParanoidiQ9BWV2.
OMAiQKAIMDL.
OrthoDBiEOG091G0NXP.
PhylomeDBiQ9BWV2.
TreeFamiTF338769.

Family and domain databases

InterProiIPR031659. SPATA9.
[Graphical view]
PfamiPF15824. SPATA9. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 241I → V in BAC04101 (PubMed:14702039).Curated
Sequence conflicti98 – 981A → T in AAK16746 (PubMed:12493713).Curated
Sequence conflicti102 – 1021L → S in BAF85027 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091K → E.1 Publication
Corresponds to variant rs34297786 [ dbSNP | Ensembl ].
VAR_051375

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei51 – 12676Missing in isoform 2. 1 PublicationVSP_023282Add
BLAST
Alternative sequencei127 – 1359VRKGSLFEI → EKKMGLQLS in isoform 3. 1 PublicationVSP_023283
Alternative sequencei136 – 254119Missing in isoform 3. 1 PublicationVSP_023284Add
BLAST

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]
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

Cross-referencesi

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]
UniGeneiHs.50499.

3D structure databases

ProteinModelPortaliQ9BWV2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000274432.

PTM databases

PhosphoSiteiQ9BWV2.

Polymorphism and mutation databases

BioMutaiSPATA9.
DMDMi126253804.

Proteomic databases

PaxDbiQ9BWV2.
PeptideAtlasiQ9BWV2.
PRIDEiQ9BWV2.

Protocols and materials databases

DNASUi83890.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi83890.
GeneCardsiSPATA9.
HGNCiHGNC:22988. SPATA9.
HPAiHPA010848.
MIMi608039. gene.
neXtProtiNX_Q9BWV2.
PharmGKBiPA134900368.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IN5C. Eukaryota.
ENOG4111D9E. LUCA.
GeneTreeiENSGT00390000014160.
HOGENOMiHOG000154372.
HOVERGENiHBG093978.
InParanoidiQ9BWV2.
OMAiQKAIMDL.
OrthoDBiEOG091G0NXP.
PhylomeDBiQ9BWV2.
TreeFamiTF338769.

Miscellaneous databases

GenomeRNAii83890.
PROiQ9BWV2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145757.
CleanExiHS_SPATA9.
GenevisibleiQ9BWV2. HS.

Family and domain databases

InterProiIPR031659. SPATA9.
[Graphical view]
PfamiPF15824. SPATA9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPAT9_HUMAN
AccessioniPrimary (citable) accession number: Q9BWV2
Secondary accession number(s): A8K8H3
, Q4G122, Q86X33, Q8NA28
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: September 7, 2016
This is version 87 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.