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UniProtKB - Q9C093 (SPEF2_HUMAN)

Entry version 137 (25 May 2022)
Sequence version 2 (21 Aug 2007)
Previous versions | rss
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Protein

Sperm flagellar protein 2

Gene

SPEF2

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

Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis (PubMed:31278745, PubMed:31151990, PubMed:31048344).

Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity).

By similarity3 Publications

<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

Complete GO annotation on QuickGO ...

<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 processDifferentiation, Spermatogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9C093

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9C093

<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%5Fand%5Ftaxonomy%5Fsection">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:
Sperm flagellar protein 2
Alternative name(s):
Protein KPL2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SPEF2
Synonyms:KIAA1770, KPL2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26293, SPEF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610172, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9C093

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000152582

<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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Flagellum, Golgi apparatus

<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

Spermatogenic failure 43 (SPGF43)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella.
Related information in OMIM
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_083842304 – 1822Missing in SPGF43; loss of protein expression; changed sperm axoneme assembly. 1 PublicationAdd BLAST1519
Natural variantiVAR_0838431368 – 1822Missing in SPGF43; loss of protein expression; changed sperm axoneme assembly. 1 PublicationAdd BLAST455

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		79925

MalaCards human disease database

More...MalaCardsi		SPEF2
MIMi618751, phenotype

Open Targets

More...OpenTargetsi		ENSG00000152582

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

More...Orphaneti		276234, Non-syndromic male infertility due to sperm motility disorder
244, Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162404451

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9C093, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPEF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		156630941

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002990291 – 1822Sperm flagellar protein 2Add BLAST1822

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9C093

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9C093

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

More...PaxDbi		Q9C093

PeptideAtlas

More...PeptideAtlasi		Q9C093

PRoteomics IDEntifications database

More...PRIDEi		Q9C093

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79968 [Q9C093-1]
79969 [Q9C093-2]
79970 [Q9C093-3]
79971 [Q9C093-4]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9C093

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9C093

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

More...PhosphoSitePlusi		Q9C093

<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

More...Bgeei		ENSG00000152582, Expressed in right uterine tube and 147 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9C093, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9C093, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000152582, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with IFT20 (PubMed:19889948).

Interacts with DYNC1I2 (By similarity).

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123002, 8 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9C093

Protein interaction database and analysis system

More...IntActi		Q9C093, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000348314

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9C093, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9C093

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

More...SMRi		Q9C093

Database of comparative protein structure models

More...ModBasei		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 105Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST105

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni896 – 1004DisorderedSequence analysisAdd BLAST109
Regioni1278 – 1327DisorderedSequence analysisAdd BLAST50
Regioni1324 – 1676Interaction with IFT201 PublicationAdd BLAST353
Regioni1664 – 1718DisorderedSequence analysisAdd BLAST55
Regioni1803 – 1822DisorderedSequence analysisAdd BLAST20

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili227 – 260Sequence analysisAdd BLAST34
Coiled coili321 – 396Sequence analysisAdd BLAST76
Coiled coili732 – 758Sequence analysisAdd BLAST27
Coiled coili871 – 909Sequence analysisAdd BLAST39
Coiled coili1686 – 1712Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi953 – 972Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi1278 – 1319Basic and acidic residuesSequence analysisAdd BLAST42
Compositional biasi1684 – 1715Basic and acidic residuesSequence analysisAdd BLAST32
Compositional biasi1805 – 1822Basic and acidic residuesSequence analysisAdd BLAST18

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR7Y, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008160

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_015066_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9C093

Identification of Orthologs from Complete Genome Data

More...OMAi		LWDICDN

Database of Orthologous Groups

More...OrthoDBi		81320at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9C093

TreeFam database of animal gene trees

More...TreeFami		TF329522

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.418.10, 1 hit
3.40.50.300, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001715, CH-domain
IPR010441, CH_2
IPR036872, CH_dom_sf
IPR011992, EF-hand-dom_pair
IPR027417, P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06294, CH_2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50021, CH, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C093-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSEILCQWLN KELKVSRTVS PKSFAKAFSS GYLLGEVLHK FELQDDFSEF 
        60         70         80         90        100
LDSRVSSAKL NNFSRLEPTL NLLGVQFDQN VAHGIITEKP GVATKLLYQL 
       110        120        130        140        150
YIALQKKKKS GLTGVEMQTM QRLTNLRLQN MKSDTFQERL RHMIPRQTDF 
       160        170        180        190        200
NLMRITYRFQ EKYKHVKEDL AHLHFEKLER FQKLKEEQRC FDIEKQYLNR 
       210        220        230        240        250
RRQNEIMAKI QAAIIQIPKP ASNRTLKALE AQKMMKKKKE AEDVADEIKK 
       260        270        280        290        300
FEALIKKDLQ AKESASKTSL DTAGQTTTDL LNTYSDDEYI KKIQKRLEED 
       310        320        330        340        350
AFAREQREKR RRKLLMDQLI AHEAQEEAYR EEQLINRLMR QSQQERRIAV 
       360        370        380        390        400
QLMHVRHEKE VLWQNRIFRE KQHEERRLKD FQDALDREAA LAKQAKIDFE 
       410        420        430        440        450
EQFLKEKRFH DQIAVERAQA RYEKHYSVCA EILDQIVDLS TKVADYRMLT 
       460        470        480        490        500
NNLIPYKLMH DWKELFFNAK PIYEQASVKT LPANPSREQL TELEKRDLLD 
       510        520        530        540        550
TNDYEEYKNM VGEWALPEEM VDNLPPSNNC ILGHILHRLA EKSLPPRAES 
       560        570        580        590        600
TTPELPSFAV KGCLLGKTLS GKTTILRSLQ KDFPIQILSI DTLVQEAIQA 
       610        620        630        640        650
FHDNEKVSEV LPIQKNDEED ALPVLQEEIK ESQDPQHVFS AGPVSDEVLP 
       660        670        680        690        700
ETEGETMLSA NADKTPKAEE VKSSDSFLKL TTRAQLGAKS EQLLKKGKSI 
       710        720        730        740        750
PDVLLVDIIV NAINEIPVNQ DCILDGFPMT LNQAQLLEEA LTGCNRNLTE 
       760        770        780        790        800
VERKKAQKST LAIDPATSKE IPLPSPAFDF VILLDVSDTS SMSRMNDIIA 
       810        820        830        840        850
EELSYKTAHE DISQRVAAEN QDKDGDQNLR DQIQHRIIGF LDNWPLLEQW 
       860        870        880        890        900
FSEPENILIK INAEIDKESL CEKVKEILTT EIAKKKNKVE KKLEEKEAEK 
       910        920        930        940        950
KAAASLAELP LPTPPPAPPP EPEKEKEIHQ SHVASKTPTA KGKPQSEAPH 
       960        970        980        990       1000
GKQESLQEGK GKKGETALKR KGSPKGKSSG GKVPVKKSPA DSTDTSPVAI 
      1010       1020       1030       1040       1050
VPQPPKPGSE EWVYVNEPVP EEMPLFLVPY WELIENSYIN TIKTVLRHLR 
      1060       1070       1080       1090       1100
EDQHTVLAYL YEIRTSFQEF LKRPDHKQDF VAQWQADFNS LPDDLWDDEE 
      1110       1120       1130       1140       1150
TKAELHQRVN DLRDRLWDIC DARKEEAEQE RLDIINESWL QDTLGMTMNH 
      1160       1170       1180       1190       1200
FFSLMQAELN RFQDTKRLLQ DYYWGMESKI PVEDNKRFTR IPLVQLDSKD 
      1210       1220       1230       1240       1250
NSESQLRIPL VPRISISLET VTPKPKTKSV LKGKMDNSLE NVESNFEADE 
      1260       1270       1280       1290       1300
KLVMDTWQQA SLAVSHMVAA EIHQRLMEEE KENQPADPKE KSPQMGANKK 
      1310       1320       1330       1340       1350
VKKEPPKKKQ EDKKPKGKSP PMAEATPVIV TTEEIAEIKR KNELRVKIKE 
      1360       1370       1380       1390       1400
EHLAALQFEE IATQFRLELI KTKALALLED LVTKVVDVYK LMEKWLGERY 
      1410       1420       1430       1440       1450
LNEMASTEKL TDVARYHIET STKIQNELYL SQEDFFINGN IKVFPDPPPS 
      1460       1470       1480       1490       1500
IRPPPVEKEE DGTLTIEQLD SLRDQFLDMA PKGIIGNKAF TDILIDLVTL 
      1510       1520       1530       1540       1550
NLGTNNFPSN WMHLTQPELQ ELTSLLTVNS EFVDWRKFLL VTSMPWPIPL 
      1560       1570       1580       1590       1600
EEELLETLQK FKAVDKEQLG TITFEQYMQA GLWFTGDEDI KIPENPLEPL 
      1610       1620       1630       1640       1650
PFNRQEHLIE FFFRLFADYE KDPPQLDYTQ MLLYFACHPD TVEGVYRALS 
      1660       1670       1680       1690       1700
VAVGTHVFQQ VKASIPSAEK TSSTDAGPAE EFPEPEENAA REERKLKDDT 
      1710       1720       1730       1740       1750
EKREQKDEEI PENANNEKMS METLLKVFKG GSEAQDSNRF ASHLKIENIY 
      1760       1770       1780       1790       1800
AEGFIKTFQD LGAKNLEPIE VAVLLKHPFI QDLISNYSDY KFPDIKIILQ 
      1810       1820 
RSEHVQGSDG ERSPSRHTEE KK
Length:1,822
Mass (Da):209,811
Last modified:August 21, 2007 - v2
<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:i88D4FC856DBC3FE4
GO
Isoform 2 (identifier: Q9C093-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     655-659: Missing.
     1794-1822: DIKIILQRSEHVQGSDGERSPSRHTEEKK → VHIIYVVEMIVCAKGWAPLPSGKQCARWRN

Show »
Length:1,818
Mass (Da):209,315
Checksum:i67BE9FB7633FF2AE
GO
Isoform 3 (identifier: Q9C093-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-514: NMVGEW → VPTDMK
     515-1822: Missing.

Show »
Length:514
Mass (Da):61,158
Checksum:i1EDCBBB7B579D79C
GO
Isoform 4 (identifier: Q9C093-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1483: MSEILCQWLN...DQFLDMAPKG → MPSQIGDRKW...HMHAKIKAES

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:619
Mass (Da):70,801
Checksum:i6D539729BBC266AF
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6REZ4D6REZ4_HUMAN
Sperm flagellar protein 2
SPEF2
943Annotation 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>
A0A1B0GWD8A0A1B0GWD8_HUMAN
Sperm flagellar protein 2
SPEF2
2,169Annotation 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>
D6RGZ5D6RGZ5_HUMAN
Sperm flagellar protein 2
SPEF2
240Annotation 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>
H0YAC0H0YAC0_HUMAN
Sperm flagellar protein 2
SPEF2
151Annotation 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>
H0Y989H0Y989_HUMAN
Sperm flagellar protein 2
SPEF2
115Annotation 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>
H0Y8H6H0Y8H6_HUMAN
Sperm flagellar protein 2
SPEF2
115Annotation 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>
A0A1B0GWC1A0A1B0GWC1_HUMAN
Sperm flagellar protein 2
SPEF2
174Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15700 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti1698D → G in BAB15563 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03476671N → H1 PublicationCorresponds to variant dbSNP:rs6897513EnsemblClinVar.1
Natural variantiVAR_03476774G → S. Corresponds to variant dbSNP:rs34307272Ensembl.1
Natural variantiVAR_083842304 – 1822Missing in SPGF43; loss of protein expression; changed sperm axoneme assembly. 1 PublicationAdd BLAST1519
Natural variantiVAR_034768366R → K. Corresponds to variant dbSNP:rs16902381Ensembl.1
Natural variantiVAR_034769447R → Q. Corresponds to variant dbSNP:rs34852821Ensembl.1
Natural variantiVAR_034770500D → N1 PublicationCorresponds to variant dbSNP:rs34708521EnsemblClinVar.1
Natural variantiVAR_034771616N → K. Corresponds to variant dbSNP:rs7710284EnsemblClinVar.1
Natural variantiVAR_034772655E → G. Corresponds to variant dbSNP:rs12332369EnsemblClinVar.1
Natural variantiVAR_051376904A → V1 PublicationCorresponds to variant dbSNP:rs13170082EnsemblClinVar.1
Natural variantiVAR_051377934A → P1 PublicationCorresponds to variant dbSNP:rs13170390EnsemblClinVar.1
Natural variantiVAR_0838431368 – 1822Missing in SPGF43; loss of protein expression; changed sperm axoneme assembly. 1 PublicationAdd BLAST455
Natural variantiVAR_0347731482K → N. Corresponds to variant dbSNP:rs2277044Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0275211 – 1483MSEIL…MAPKG → MPSQIGDRKWLHGLQAALQN FLKGYPAIVRQLHSAGRGKS DTSQKKPKELLESLLQADIV KFAHFLLDVMNVLSILSCVN KNRNSSIADIFATLESMLEM LQMYQTRLGPKERMVDSATH FHGNCLRGKENISAVRNIVL THLIKRLQGCFRDASQNVVR ATVIGSFKLWPTKINQEFGE KEVSILTAHYEPVLEAANVK LSEVDTEWSMLKLEIYARFQ NIRKLTWDFVNSIYLHKYPN ILTLVDLVLTLPASSAEAEH GFSQMKWTKSHMHAKIKAES in isoform 4. 1 PublicationAdd BLAST1483
Alternative sequenceiVSP_027522509 – 514NMVGEW → VPTDMK in isoform 3. 2 Publications6
Alternative sequenceiVSP_027523515 – 1822Missing in isoform 3. 2 PublicationsAdd BLAST1308
Alternative sequenceiVSP_027524655 – 659Missing in isoform 2. 1 Publication5
Alternative sequenceiVSP_0275251794 – 1822DIKII…TEEKK → VHIIYVVEMIVCAKGWAPLP SGKQCARWRN in isoform 2. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK026817 mRNA Translation: BAB15563.1
AK027230 mRNA Translation: BAB15700.1 Different initiation.
AK058124 mRNA Translation: BAB71674.1
BC110984 mRNA Translation: AAI10985.1
AB051557 mRNA Translation: BAB21861.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3910.1 [Q9C093-3]
CCDS43309.1 [Q9C093-1]

NCBI Reference Sequences

More...RefSeqi		NP_079143.3, NM_024867.3 [Q9C093-1]
NP_653323.1, NM_144722.3 [Q9C093-3]
XP_005248434.1, XM_005248377.3 [Q9C093-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000282469.10; ENSP00000282469.6; ENSG00000152582.14 [Q9C093-3]
ENST00000356031.8; ENSP00000348314.3; ENSG00000152582.14
ENST00000440995.6; ENSP00000412125.2; ENSG00000152582.14 [Q9C093-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79925

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79925

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000356031.8; ENSP00000348314.3; NM_024867.4; NP_079143.3

UCSC genome browser

More...UCSCi		uc003jjn.2, human [Q9C093-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AK026817 mRNA Translation: BAB15563.1
AK027230 mRNA Translation: BAB15700.1 Different initiation.
AK058124 mRNA Translation: BAB71674.1
BC110984 mRNA Translation: AAI10985.1
AB051557 mRNA Translation: BAB21861.1
CCDSiCCDS3910.1 [Q9C093-3]
CCDS43309.1 [Q9C093-1]
RefSeqiNP_079143.3, NM_024867.3 [Q9C093-1]
NP_653323.1, NM_144722.3 [Q9C093-3]
XP_005248434.1, XM_005248377.3 [Q9C093-2]

3D structure databases

AlphaFoldDBiQ9C093
SMRiQ9C093
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123002, 8 interactors
CORUMiQ9C093
IntActiQ9C093, 9 interactors
STRINGi9606.ENSP00000348314

PTM databases

CarbonylDBiQ9C093
iPTMnetiQ9C093
PhosphoSitePlusiQ9C093

Genetic variation databases

BioMutaiSPEF2
DMDMi156630941

Proteomic databases

EPDiQ9C093
MassIVEiQ9C093
PaxDbiQ9C093
PeptideAtlasiQ9C093
PRIDEiQ9C093
ProteomicsDBi79968 [Q9C093-1]
79969 [Q9C093-2]
79970 [Q9C093-3]
79971 [Q9C093-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22874, 50 antibodies from 12 providers

The DNASU plasmid repository

More...DNASUi		79925

Genome annotation databases

EnsembliENST00000282469.10; ENSP00000282469.6; ENSG00000152582.14 [Q9C093-3]
ENST00000356031.8; ENSP00000348314.3; ENSG00000152582.14
ENST00000440995.6; ENSP00000412125.2; ENSG00000152582.14 [Q9C093-2]
GeneIDi79925
KEGGihsa:79925
MANE-SelectiENST00000356031.8; ENSP00000348314.3; NM_024867.4; NP_079143.3
UCSCiuc003jjn.2, human [Q9C093-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79925
DisGeNETi79925

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPEF2
HGNCiHGNC:26293, SPEF2
HPAiENSG00000152582, Low tissue specificity
MalaCardsiSPEF2
MIMi610172, gene
618751, phenotype
neXtProtiNX_Q9C093
OpenTargetsiENSG00000152582
Orphaneti276234, Non-syndromic male infertility due to sperm motility disorder
244, Primary ciliary dyskinesia
PharmGKBiPA162404451
VEuPathDBiHostDB:ENSG00000152582

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QR7Y, Eukaryota
GeneTreeiENSGT00390000008160
HOGENOMiCLU_015066_0_0_1
InParanoidiQ9C093
OMAiLWDICDN
OrthoDBi81320at2759
PhylomeDBiQ9C093
TreeFamiTF329522

Enzyme and pathway databases

PathwayCommonsiQ9C093
SignaLinkiQ9C093

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79925, 18 hits in 1062 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SPEF2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SPEF2

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

More...GenomeRNAii		79925
PharosiQ9C093, Tdark

Protein Ontology

More...PROi		PR:Q9C093
RNActiQ9C093, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000152582, Expressed in right uterine tube and 147 other tissues
ExpressionAtlasiQ9C093, baseline and differential
GenevisibleiQ9C093, HS

Family and domain databases

Gene3Di1.10.418.10, 1 hit
3.40.50.300, 1 hit
InterProiView protein in InterPro
IPR001715, CH-domain
IPR010441, CH_2
IPR036872, CH_dom_sf
IPR011992, EF-hand-dom_pair
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF06294, CH_2, 1 hit
SUPFAMiSSF47473, SSF47473, 1 hit
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50021, CH, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiSPEF2_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: Q9C093
Secondary accession number(s): Q2TAC9
, Q96LL6, Q9H5C7, Q9H5Q7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: May 25, 2022
This is version 137 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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