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UniProtKB - Q9C093 (SPEF2_HUMAN)

Protein

Sperm flagellar protein 2

Gene

SPEF2

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

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

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Sperm flagellar protein 2
Alternative name(s):
Protein KPL2
Gene namesi
Name:SPEF2
Synonyms:KIAA1770, KPL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000152582.12
HGNCiHGNC:26293 SPEF2
MIMi610172 gene
neXtProtiNX_Q9C093

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

Cytoplasm, Golgi apparatus

Pathology & Biotechi

Organism-specific databases

DisGeNETi79925
OpenTargetsiENSG00000152582
PharmGKBiPA162404451

Polymorphism and mutation databases

BioMutaiSPEF2
DMDMi156630941

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002990291 – 1822Sperm flagellar protein 2Add BLAST1822

Proteomic databases

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

PTM databases

CarbonylDBiQ9C093
iPTMnetiQ9C093
PhosphoSitePlusiQ9C093

Expressioni

Gene expression databases

BgeeiENSG00000152582 Expressed in 127 organ(s), highest expression level in right uterine tube
CleanExiHS_SPEF2
ExpressionAtlasiQ9C093 baseline and differential
GenevisibleiQ9C093 HS

Organism-specific databases

HPAiHPA039606
HPA040343

Interactioni

Subunit structurei

Interacts (via C-terminus) with IFT20 (PubMed:19889948). Interacts with DYNC1I2 (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi123002, 2 interactors
CORUMiQ9C093
IntActiQ9C093, 3 interactors
STRINGi9606.ENSP00000348314

Structurei

3D structure databases

ProteinModelPortaliQ9C093
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 105Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST105

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1324 – 1676Interaction with IFT201 PublicationAdd BLAST353

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEY9 Eukaryota
ENOG410XS1Z LUCA
GeneTreeiENSGT00390000008160
HOGENOMiHOG000234331
HOVERGENiHBG108505
InParanoidiQ9C093
OMAiEMQTMQP
OrthoDBiEOG091G00LX
PhylomeDBiQ9C093
TreeFamiTF329522

Family and domain databases

Gene3Di1.10.418.10, 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

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 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 '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
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
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

Note: No experimental confirmation available.
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.
Show »
Length:619
Mass (Da):70,801
Checksum:i6D539729BBC266AF
GO

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:
D6RGZ5D6RGZ5_HUMAN
Sperm flagellar protein 2
SPEF2
240Annotation score:
A0A1B0GWD8A0A1B0GWD8_HUMAN
Sperm flagellar protein 2
SPEF2
2,169Annotation score:
H0Y989H0Y989_HUMAN
Sperm flagellar protein 2
SPEF2
115Annotation score:
H0YAC0H0YAC0_HUMAN
Sperm flagellar protein 2
SPEF2
151Annotation score:
H0Y8H6H0Y8H6_HUMAN
Sperm flagellar protein 2
SPEF2
115Annotation score:
A0A1B0GWC1A0A1B0GWC1_HUMAN
Sperm flagellar protein 2
SPEF2
174Annotation score:

Sequence cautioni

The sequence BAB15700 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_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:rs12332369Ensembl.1
Natural variantiVAR_051376904A → V1 PublicationCorresponds to variant dbSNP:rs13170082EnsemblClinVar.1
Natural variantiVAR_051377934A → P1 PublicationCorresponds to variant dbSNP:rs13170390EnsemblClinVar.1
Natural variantiVAR_0347731482K → N. Corresponds to variant dbSNP:rs2277044Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.298863

Genome annotation databases

EnsembliENST00000282469; ENSP00000282469; ENSG00000152582 [Q9C093-3]
ENST00000356031; ENSP00000348314; ENSG00000152582 [Q9C093-1]
ENST00000440995; ENSP00000412125; ENSG00000152582 [Q9C093-2]
GeneIDi79925
KEGGihsa:79925
UCSCiuc003jjn.2 human [Q9C093-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.298863

3D structure databases

ProteinModelPortaliQ9C093
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123002, 2 interactors
CORUMiQ9C093
IntActiQ9C093, 3 interactors
STRINGi9606.ENSP00000348314

PTM databases

CarbonylDBiQ9C093
iPTMnetiQ9C093
PhosphoSitePlusiQ9C093

Polymorphism and mutation databases

BioMutaiSPEF2
DMDMi156630941

Proteomic databases

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

Protocols and materials databases

DNASUi79925
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282469; ENSP00000282469; ENSG00000152582 [Q9C093-3]
ENST00000356031; ENSP00000348314; ENSG00000152582 [Q9C093-1]
ENST00000440995; ENSP00000412125; ENSG00000152582 [Q9C093-2]
GeneIDi79925
KEGGihsa:79925
UCSCiuc003jjn.2 human [Q9C093-1]

Organism-specific databases

CTDi79925
DisGeNETi79925
EuPathDBiHostDB:ENSG00000152582.12
GeneCardsiSPEF2
H-InvDBiHIX0022797
HGNCiHGNC:26293 SPEF2
HPAiHPA039606
HPA040343
MIMi610172 gene
neXtProtiNX_Q9C093
OpenTargetsiENSG00000152582
PharmGKBiPA162404451
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEY9 Eukaryota
ENOG410XS1Z LUCA
GeneTreeiENSGT00390000008160
HOGENOMiHOG000234331
HOVERGENiHBG108505
InParanoidiQ9C093
OMAiEMQTMQP
OrthoDBiEOG091G00LX
PhylomeDBiQ9C093
TreeFamiTF329522

Miscellaneous databases

ChiTaRSiSPEF2 human
GeneWikiiSPEF2
GenomeRNAii79925
PROiPR:Q9C093
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152582 Expressed in 127 organ(s), highest expression level in right uterine tube
CleanExiHS_SPEF2
ExpressionAtlasiQ9C093 baseline and differential
GenevisibleiQ9C093 HS

Family and domain databases

Gene3Di1.10.418.10, 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
ProtoNetiSearch...

Entry informationi

Entry nameiSPEF2_HUMAN
AccessioniPrimary (citable) accession number: Q9C093
Secondary accession number(s): Q2TAC9
, Q96LL6, Q9H5C7, Q9H5Q7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: November 7, 2018
This is version 118 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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