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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-Experimental evidence at protein leveli

Functioni

Required for correct axoneme development.By similarity

GO - Biological processi

Complete GO annotation...

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26293. SPEF2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162404451.

Polymorphism and mutation databases

BioMutaiSPEF2.
DMDMi156630941.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 18221822Sperm flagellar protein 2PRO_0000299029Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki982 – 982Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9C093.
PaxDbiQ9C093.
PeptideAtlasiQ9C093.
PRIDEiQ9C093.

PTM databases

iPTMnetiQ9C093.
PhosphoSiteiQ9C093.

Expressioni

Gene expression databases

BgeeiENSG00000152582.
CleanExiHS_SPEF2.
ExpressionAtlasiQ9C093. baseline and differential.
GenevisibleiQ9C093. HS.

Organism-specific databases

HPAiHPA039606.
HPA040343.

Interactioni

Protein-protein interaction databases

BioGridi123002. 1 interaction.
IntActiQ9C093. 2 interactions.
STRINGi9606.ENSP00000348314.

Structurei

3D structure databases

ProteinModelPortaliQ9C093.
SMRiQ9C093. Positions 1463-1580.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 105105CHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili227 – 26034Sequence analysisAdd
BLAST
Coiled coili321 – 39676Sequence analysisAdd
BLAST
Coiled coili732 – 75827Sequence analysisAdd
BLAST
Coiled coili871 – 90939Sequence analysisAdd
BLAST
Coiled coili1686 – 171227Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEY9. Eukaryota.
ENOG410XS1Z. LUCA.
GeneTreeiENSGT00390000008160.
HOGENOMiHOG000234331.
HOVERGENiHBG108505.
InParanoidiQ9C093.
OMAiNNCILGH.
OrthoDBiEOG091G00LX.
PhylomeDBiQ9C093.
TreeFamiTF329522.

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR001715. CH-domain.
IPR010441. CH_2.
IPR011992. EF-hand-dom_pair.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF06294. CH_2. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1698 – 16981D → G in BAB15563 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711N → H.1 Publication
Corresponds to variant rs6897513 [ dbSNP | Ensembl ].
VAR_034766
Natural varianti74 – 741G → S.
Corresponds to variant rs34307272 [ dbSNP | Ensembl ].
VAR_034767
Natural varianti366 – 3661R → K.
Corresponds to variant rs16902381 [ dbSNP | Ensembl ].
VAR_034768
Natural varianti447 – 4471R → Q.
Corresponds to variant rs34852821 [ dbSNP | Ensembl ].
VAR_034769
Natural varianti500 – 5001D → N.1 Publication
Corresponds to variant rs34708521 [ dbSNP | Ensembl ].
VAR_034770
Natural varianti616 – 6161N → K.
Corresponds to variant rs7710284 [ dbSNP | Ensembl ].
VAR_034771
Natural varianti655 – 6551E → G.
Corresponds to variant rs12332369 [ dbSNP | Ensembl ].
VAR_034772
Natural varianti904 – 9041A → V.1 Publication
Corresponds to variant rs13170082 [ dbSNP | Ensembl ].
VAR_051376
Natural varianti934 – 9341A → P.1 Publication
Corresponds to variant rs13170390 [ dbSNP | Ensembl ].
VAR_051377
Natural varianti1482 – 14821K → N.
Corresponds to variant rs2277044 [ dbSNP | Ensembl ].
VAR_034773

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 14831483MSEIL…MAPKG → MPSQIGDRKWLHGLQAALQN FLKGYPAIVRQLHSAGRGKS DTSQKKPKELLESLLQADIV KFAHFLLDVMNVLSILSCVN KNRNSSIADIFATLESMLEM LQMYQTRLGPKERMVDSATH FHGNCLRGKENISAVRNIVL THLIKRLQGCFRDASQNVVR ATVIGSFKLWPTKINQEFGE KEVSILTAHYEPVLEAANVK LSEVDTEWSMLKLEIYARFQ NIRKLTWDFVNSIYLHKYPN ILTLVDLVLTLPASSAEAEH GFSQMKWTKSHMHAKIKAES in isoform 4. 1 PublicationVSP_027521Add
BLAST
Alternative sequencei509 – 5146NMVGEW → VPTDMK in isoform 3. 2 PublicationsVSP_027522
Alternative sequencei515 – 18221308Missing in isoform 3. 2 PublicationsVSP_027523Add
BLAST
Alternative sequencei655 – 6595Missing in isoform 2. 1 PublicationVSP_027524
Alternative sequencei1794 – 182229DIKII…TEEKK → VHIIYVVEMIVCAKGWAPLP SGKQCARWRN in isoform 2. 1 PublicationVSP_027525Add
BLAST

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

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.
SMRiQ9C093. Positions 1463-1580.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123002. 1 interaction.
IntActiQ9C093. 2 interactions.
STRINGi9606.ENSP00000348314.

PTM databases

iPTMnetiQ9C093.
PhosphoSiteiQ9C093.

Polymorphism and mutation databases

BioMutaiSPEF2.
DMDMi156630941.

Proteomic databases

EPDiQ9C093.
PaxDbiQ9C093.
PeptideAtlasiQ9C093.
PRIDEiQ9C093.

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.
GeneCardsiSPEF2.
H-InvDBHIX0022797.
HGNCiHGNC:26293. SPEF2.
HPAiHPA039606.
HPA040343.
MIMi610172. gene.
neXtProtiNX_Q9C093.
PharmGKBiPA162404451.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEY9. Eukaryota.
ENOG410XS1Z. LUCA.
GeneTreeiENSGT00390000008160.
HOGENOMiHOG000234331.
HOVERGENiHBG108505.
InParanoidiQ9C093.
OMAiNNCILGH.
OrthoDBiEOG091G00LX.
PhylomeDBiQ9C093.
TreeFamiTF329522.

Miscellaneous databases

ChiTaRSiSPEF2. human.
GeneWikiiSPEF2.
GenomeRNAii79925.
PROiQ9C093.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152582.
CleanExiHS_SPEF2.
ExpressionAtlasiQ9C093. baseline and differential.
GenevisibleiQ9C093. HS.

Family and domain databases

Gene3Di3.40.50.300. 3 hits.
InterProiIPR001715. CH-domain.
IPR010441. CH_2.
IPR011992. EF-hand-dom_pair.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF06294. CH_2. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF52540. SSF52540. 3 hits.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPEF2_HUMAN
AccessioniPrimary (citable) accession number: Q9C093
Secondary accession number(s): Q2TAC9
, Q96LL6, Q9H5C7, Q9H5Q7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: August 21, 2007
Last modified: September 7, 2016
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

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