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Protein

Spermatogenesis-associated protein 7

Gene

SPATA7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Spermatogenesis-associated protein 7
Alternative name(s):
HSD-3.1
Spermatogenesis-associated protein HSD3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SPATA7
Synonyms:HSD3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000042317.16

Human Gene Nomenclature Database

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HGNCi
HGNC:20423 SPATA7

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609868 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9P0W8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Leber congenital amaurosis 3 (LCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
See also OMIM:604232
Retinitis pigmentosa autosomal recessive (ARRP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:268000

Keywords - Diseasei

Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET

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DisGeNETi
55812

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SPATA7

MalaCards human disease database

More...
MalaCardsi
SPATA7
MIMi268000 phenotype
604232 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000042317

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
65 Leber congenital amaurosis
791 Retinitis pigmentosa
364055 Severe early-childhood-onset retinal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134907300

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SPATA7

Domain mapping of disease mutations (DMDM)

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DMDMi
37089915

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000721041 – 599Spermatogenesis-associated protein 7Add BLAST599

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9P0W8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9P0W8

PeptideAtlas

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PeptideAtlasi
Q9P0W8

PRoteomics IDEntifications database

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PRIDEi
Q9P0W8

ProteomicsDB human proteome resource

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ProteomicsDBi
83619
83620 [Q9P0W8-2]
83621 [Q9P0W8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9P0W8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9P0W8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000042317 Expressed in 203 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

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CleanExi
HS_SPATA7

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9P0W8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9P0W8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038082
HPA038083

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RPGRIP1 (PubMed:25398945). Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26167768).2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120922, 9 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9P0W8

Protein interaction database and analysis system

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IntActi
Q9P0W8, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000377176

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9P0W8

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9P0W8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IKU4 Eukaryota
ENOG4111WP7 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014113

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000132972

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG055067

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9P0W8

KEGG Orthology (KO)

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KOi
K19655

Identification of Orthologs from Complete Genome Data

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OMAi
NRHLPFT

Database of Orthologous Groups

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OrthoDBi
EOG091G06RB

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9P0W8

TreeFam database of animal gene trees

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TreeFami
TF330591

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029357 SPATA7

The PANTHER Classification System

More...
PANTHERi
PTHR14917 PTHR14917, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15244 HSD3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P0W8-1) [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
MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN
60 70 80 90 100
HMAVHYNKIL SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF
110 120 130 140 150
KLTKTAMRAN YKNNSKSLFN TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL
160 170 180 190 200
VPSSERLHLS LHKSSKVITN GPEKNSSSSP SSVDYAASGP RKLSSGALYG
210 220 230 240 250
RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF TPRTLKTEAK
260 270 280 290 300
SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM
310 320 330 340 350
NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL
360 370 380 390 400
KPPSTRKIYS DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN
410 420 430 440 450
KHLEEEKMRH LLHVLKVDLG CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN
460 470 480 490 500
ELKNESEVTI QQERQQYQKA LDMLLSAPKD ENEIFPSPTE FFMPIYKSKH
510 520 530 540 550
SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV IEGDSDPEKV
560 570 580 590
EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV
Length:599
Mass (Da):67,719
Last modified:September 26, 2003 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDEED7B4D732CC74F
GO
Isoform 2 (identifier: Q9P0W8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-63: Missing.

Note: No experimental confirmation available.
Show »
Length:567
Mass (Da):64,160
Checksum:iC5E1B8AD089ABEE4
GO
Isoform 3 (identifier: Q9P0W8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     428-568: Missing.

Show »
Length:458
Mass (Da):51,931
Checksum:iD42B8D20120FC796
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5N2G3V5N2_HUMAN
Spermatogenesis-associated protein ...
SPATA7
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2E1G3V2E1_HUMAN
Spermatogenesis-associated protein ...
SPATA7
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ48H0YJ48_HUMAN
Spermatogenesis-associated protein ...
SPATA7
91Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ93H0YJ93_HUMAN
Spermatogenesis-associated protein ...
SPATA7
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V2V4G3V2V4_HUMAN
Spermatogenesis-associated protein ...
SPATA7
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V287G3V287_HUMAN
Spermatogenesis-associated protein ...
SPATA7
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5H6G3V5H6_HUMAN
Spermatogenesis-associated protein ...
SPATA7
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4A9G3V4A9_HUMAN
Spermatogenesis-associated protein ...
SPATA7
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3D2G3V3D2_HUMAN
Spermatogenesis-associated protein ...
SPATA7
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5V8G3V5V8_HUMAN
Spermatogenesis-associated protein ...
SPATA7
49Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti124K → E in CAB66539 (PubMed:11230166).Curated1
Sequence conflicti217I → T in AAF66077 (PubMed:12508121).Curated1
Sequence conflicti305A → AA in AAF66078 (PubMed:12736779).Curated1
Sequence conflicti405E → G in CAB66539 (PubMed:11230166).Curated1
Sequence conflicti451E → K in CAB66539 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0513702D → N. Corresponds to variant dbSNP:rs4904448EnsemblClinVar.1
Natural variantiVAR_01691274V → M2 PublicationsCorresponds to variant dbSNP:rs3179969EnsemblClinVar.1
Natural variantiVAR_051371119F → L. Corresponds to variant dbSNP:rs35137272EnsemblClinVar.1
Natural variantiVAR_051372165S → N. Corresponds to variant dbSNP:rs17124662EnsemblClinVar.1
Natural variantiVAR_051373324G → E. Corresponds to variant dbSNP:rs17124677EnsemblClinVar.1
Natural variantiVAR_067191332I → T Found in a patient with LCA3. 1 PublicationCorresponds to variant dbSNP:rs534658921Ensembl.1
Natural variantiVAR_051374534R → Q. Corresponds to variant dbSNP:rs10139784EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00834132 – 63Missing in isoform 2. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_008342428 – 568Missing in isoform 3. 1 PublicationAdd BLAST141

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF144487 mRNA Translation: AAF66077.2
AF144488 mRNA Translation: AAF66078.1
AL136604 mRNA Translation: CAB66539.1
AL049834 Genomic DNA No translation available.
AL353786 Genomic DNA Translation: CAD18999.1
CH471061 Genomic DNA Translation: EAW81380.1
BC008656 mRNA Translation: AAH08656.2
BC090875 mRNA Translation: AAH90875.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32132.1 [Q9P0W8-2]
CCDS9883.1 [Q9P0W8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001035518.1, NM_001040428.3 [Q9P0W8-2]
NP_060888.2, NM_018418.4 [Q9P0W8-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.525518

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000045347; ENSP00000045347; ENSG00000042317 [Q9P0W8-3]
ENST00000356583; ENSP00000348991; ENSG00000042317 [Q9P0W8-2]
ENST00000393545; ENSP00000377176; ENSG00000042317 [Q9P0W8-1]
ENST00000556553; ENSP00000451128; ENSG00000042317 [Q9P0W8-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55812

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55812

UCSC genome browser

More...
UCSCi
uc001xwr.5 human [Q9P0W8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF144487 mRNA Translation: AAF66077.2
AF144488 mRNA Translation: AAF66078.1
AL136604 mRNA Translation: CAB66539.1
AL049834 Genomic DNA No translation available.
AL353786 Genomic DNA Translation: CAD18999.1
CH471061 Genomic DNA Translation: EAW81380.1
BC008656 mRNA Translation: AAH08656.2
BC090875 mRNA Translation: AAH90875.1
CCDSiCCDS32132.1 [Q9P0W8-2]
CCDS9883.1 [Q9P0W8-1]
RefSeqiNP_001035518.1, NM_001040428.3 [Q9P0W8-2]
NP_060888.2, NM_018418.4 [Q9P0W8-1]
UniGeneiHs.525518

3D structure databases

ProteinModelPortaliQ9P0W8
SMRiQ9P0W8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120922, 9 interactors
CORUMiQ9P0W8
IntActiQ9P0W8, 8 interactors
STRINGi9606.ENSP00000377176

PTM databases

iPTMnetiQ9P0W8
PhosphoSitePlusiQ9P0W8

Polymorphism and mutation databases

BioMutaiSPATA7
DMDMi37089915

Proteomic databases

EPDiQ9P0W8
PaxDbiQ9P0W8
PeptideAtlasiQ9P0W8
PRIDEiQ9P0W8
ProteomicsDBi83619
83620 [Q9P0W8-2]
83621 [Q9P0W8-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55812
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000045347; ENSP00000045347; ENSG00000042317 [Q9P0W8-3]
ENST00000356583; ENSP00000348991; ENSG00000042317 [Q9P0W8-2]
ENST00000393545; ENSP00000377176; ENSG00000042317 [Q9P0W8-1]
ENST00000556553; ENSP00000451128; ENSG00000042317 [Q9P0W8-2]
GeneIDi55812
KEGGihsa:55812
UCSCiuc001xwr.5 human [Q9P0W8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55812
DisGeNETi55812
EuPathDBiHostDB:ENSG00000042317.16

GeneCards: human genes, protein and diseases

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GeneCardsi
SPATA7
GeneReviewsiSPATA7
HGNCiHGNC:20423 SPATA7
HPAiHPA038082
HPA038083
MalaCardsiSPATA7
MIMi268000 phenotype
604232 phenotype
609868 gene
neXtProtiNX_Q9P0W8
OpenTargetsiENSG00000042317
Orphaneti65 Leber congenital amaurosis
791 Retinitis pigmentosa
364055 Severe early-childhood-onset retinal dystrophy
PharmGKBiPA134907300

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKU4 Eukaryota
ENOG4111WP7 LUCA
GeneTreeiENSGT00390000014113
HOGENOMiHOG000132972
HOVERGENiHBG055067
InParanoidiQ9P0W8
KOiK19655
OMAiNRHLPFT
OrthoDBiEOG091G06RB
PhylomeDBiQ9P0W8
TreeFamiTF330591

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SPATA7

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55812

Protein Ontology

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PROi
PR:Q9P0W8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000042317 Expressed in 203 organ(s), highest expression level in right testis
CleanExiHS_SPATA7
ExpressionAtlasiQ9P0W8 baseline and differential
GenevisibleiQ9P0W8 HS

Family and domain databases

InterProiView protein in InterPro
IPR029357 SPATA7
PANTHERiPTHR14917 PTHR14917, 1 hit
PfamiView protein in Pfam
PF15244 HSD3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPAT7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P0W8
Secondary accession number(s): Q5BKY5
, Q8WX30, Q96HF3, Q9H0X0, Q9P0W7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: December 5, 2018
This is version 133 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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