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Protein

Sperm flagellar protein 2

Gene

Spef2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for correct axoneme development in spermatozoa (PubMed:21715716, PubMed:28619825). Important for normal development of the manchette and sperm head morphology (PubMed:28619825). Essential for male fertility (PubMed:21715716, PubMed:28619825). 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 (PubMed:28619825).2 Publications

GO - Biological processi

Keywordsi

Biological processDifferentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Sperm flagellar protein 2
Alternative name(s):
Protein KPL2
Gene namesi
Name:Spef2
Synonyms:Kpl2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 15

Organism-specific databases

MGIiMGI:2443727 Spef2

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, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Disruption phenotypei

Lethality occurs at approximately 3 weeks of age, accompanied by severe hydrocephaly. Weight at birth is similar to wild type but subsequently there is significant growth retardation. Bone mineralization is reduced in the vertebral column and hindlimbs, associated with decreased bone strength. Bone length and skull thickness is also slightly reduced. Trabecular bone density is reduced, along with reduced trabecular number and increased open porosity. Expression of the osteoblast marker genes RUNX2, BGLAP/OCN and COL1A1/COL1 is reduced in bone tissue. Expression of SP7/OSX and ALPL is also reduced in cultured calvarial osteoblasts. Osteoclast differentiation does not appear to be affected. No obvious effects on cilia length or axonemal structure.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002990301 – 1724Sperm flagellar protein 2Add BLAST1724

Proteomic databases

MaxQBiQ8C9J3
PaxDbiQ8C9J3
PRIDEiQ8C9J3

PTM databases

iPTMnetiQ8C9J3
PhosphoSitePlusiQ8C9J3

Expressioni

Tissue specificityi

Highly expressed in testis, where it primarily localizes to late spermatocytes, round spermatids and elongating spermatids (at protein level) (PubMed:19889948, PubMed:29339787). Found in Sertoli cells of the testis (at protein level) (PubMed:19889948). Expressed at lower levels in epididymis (at protein level) (PubMed:19889948, PubMed:29339787). Detected in lung, brain, liver and kidney (PubMed:19889948, PubMed:29339787). Also detected in bone, cartilage, trachea, pituitary gland and eye (PubMed:29339787). Expressed in osteoblasts and chondrocytes (PubMed:29339787).2 Publications

Developmental stagei

Shows increasing expression levels in testis during postnatal stages, reaching highest levels by postnatal day 50. In testis, first detected in pachytene spermatocytes (stage VII), reaching peak expression in meitotically dividing spermatocytes (stage XII).1 Publication

Gene expression databases

BgeeiENSMUSG00000072663 Expressed in 36 organ(s), highest expression level in olfactory epithelium
CleanExiMM_SPEF2
ExpressionAtlasiQ8C9J3 baseline and differential
GenevisibleiQ8C9J3 MM

Interactioni

Subunit structurei

Interacts (via C-terminus) with IFT20 (PubMed:19889948). Interacts with DYNC1I2 (PubMed:28619825).2 Publications

Protein-protein interaction databases

IntActiQ8C9J3, 1 interactor
STRINGi10090.ENSMUSP00000035762

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1228 – 1580Interaction with IFT20By similarityAdd BLAST353

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili170 – 203Sequence analysisAdd BLAST34
Coiled coili255 – 351Sequence analysisAdd BLAST97
Coiled coili665 – 691Sequence analysisAdd BLAST27
Coiled coili995 – 1021Sequence analysisAdd BLAST27

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1191 – 1220Lys-richAdd BLAST30

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEY9 Eukaryota
ENOG410XS1Z LUCA
GeneTreeiENSGT00390000008160
HOGENOMiHOG000008124
HOVERGENiHBG108505
InParanoidiQ8C9J3
OMAiEMQTMQP
PhylomeDBiQ8C9J3
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
Note: A number of isoforms are produced.1 Publication

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8C9J3-1) [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 QELRVSRTVS PKSFAKAFSN GYLIGEVLFK FELQSDFAEF
60 70 80 90 100
SESRGSTAKL NNFSRLQPTL HLLGLQFDQN VAQSIITEKP GAATKLLYQL
110 120 130 140 150
YIALQKKKKT GLTGLEIQTM QPQTNLRLQT LKSEAFREQR LNRRRQNEIM
160 170 180 190 200
AKIQAAIIQI PKPESNRTLK AIEAQKLMKK KKEAEDVANE IKKFEALIKK
210 220 230 240 250
DLQIKESVSK TSLETTDQTT AELLNTYSDD DYIKKIQKRL EEDAFAREQR
260 270 280 290 300
EKRRRRLLMD QLMAHEAQEE AYREEQLIHR LMRQSQQERR IAVQLMHVRH
310 320 330 340 350
EKEVLWQNRI FREKQFEERR LKDFQDALDR EAALAKQAKI DFAEQTLREK
360 370 380 390 400
EIHEKISVER AQQRYKKHYG ICAEILDQML DLCTKVADYR LLTNNLIPHK
410 420 430 440 450
MMHDWKELFF SGIPIYEQTS LTHGQTEPTE DHRAEVKKRN LLDSKDYEDY
460 470 480 490 500
KNMVGEWALP EDMVNSSPPS NNSILGHVLL RLIEKADPSA SNAEATELPS
510 520 530 540 550
LAVKGCILGK TLSGKTTVLK SLQNDFPVHV LSIDTLVQEA IQAFHERQKS
560 570 580 590 600
GKTPPTQEDD KRDPVVNQEK VSKTQDKNVL AVSPVPGDRT SQKEGVKINE
610 620 630 640 650
FEQFRSSDSF LSLSMRAQLG AKSELMLRRG KSIPDILLVS ILVNAIKEIP
660 670 680 690 700
VDQSWVLDGF PITLNQAKLL EEALTGYKRK FLQLKKKKEQ MPTLALDPST
710 720 730 740 750
STEVSLLPSA LDFVILLDIS DNSSLARTND IIAKEISHEI SHENVGRPGT
760 770 780 790 800
GTSQDNKSED RNLRDHIQHR IVGFLDNWPL LEEWFTQPKN ILTKVNAEID
810 820 830 840 850
EALLCQKVKE IFATETVNKK IKVEKTLEEK ETEKKAGAPP AEPPAMSPPL
860 870 880 890 900
SSEAEKDKEL HQAKTPGKGK TQSVSPKGKA QGGKVSVKKS PVGSAEVSPT
910 920 930 940 950
PTAPPPPKAG TEEWVYVNEP IPEELPSFLV PYWELIEKSY INHIKTVLRH
960 970 980 990 1000
LRERQHNVLS YLYETRTSFQ EFLRRPDHKQ DFVSQWQADF NSVPEDLWED
1010 1020 1030 1040 1050
EETKAELHQR VNDLRDRLWD ICEARKEEAE QERLDIINES WLQDSIGITM
1060 1070 1080 1090 1100
NHFFSLMQAE VNRFQDTKRL LQDYYRAMES KIPLEDSKKF TRVPLVQLDG
1110 1120 1130 1140 1150
KEISESQLRI PLVPRISNSP ENSAVKPKVG TFLKGRSDPP LEVLEANFEI
1160 1170 1180 1190 1200
DEKILLDTWQ QASLAISNMV AAEVHQRLTE EEKEPPQLDS KEKSPQSGAN
1210 1220 1230 1240 1250
KKAKKEKEAP KKKKTDKKGK GKSSPVAEVS PVTVTPEEMA EMEKRNELRL
1260 1270 1280 1290 1300
RIKEEHLAAL QTEEQAAQFR LELIKLKALS VLEDLVTKVI DVYRLMEKWL
1310 1320 1330 1340 1350
GKRYLNEMAS IQKLTELARY HIETATKIQN EIYLSQEDFY INGDIKVFPD
1360 1370 1380 1390 1400
PSPPTRPPPV EREENGTLTI EQLDNLRDQF LDMAPKGIIG NKAFSDILLD
1410 1420 1430 1440 1450
LITLNLGTNN FPSSWMHLSQ LDLQEITSLL TVNTEFVDWR KFLMVTAMPW
1460 1470 1480 1490 1500
PMALEDELLD TLQRFKALDE AQTGTITYEQ YKQAGLWFSG DEDIKIPENP
1510 1520 1530 1540 1550
LEPLPFNRQE HLIEFFFRLF ADCEKEPPQL DYTQMLLYFA CHPDTLEGVY
1560 1570 1580 1590 1600
RALSVAVGTH IFRQVETPML MAEKTSISTV SPIEEFPETE ESSAKEDREL
1610 1620 1630 1640 1650
KEEKDDQKEE EIPENANTEK ISMETLLKVF GGGNEVLDAN RFASYLKSEN
1660 1670 1680 1690 1700
IYAENFIKTF QDLGARNLEP IAVNILLKHP YIQDLIANYV DYKFPDIKMI
1710 1720
LQRSEHAQGS DGERSPSRLT DEKK
Length:1,724
Mass (Da):197,972
Last modified:October 10, 2018 - v3
Checksum:i9AB4F1737BD770C1
GO
Isoform 2 (identifier: Q8C9J3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     873-875: SVS → SGD
     876-1724: Missing.

Note: No experimental confirmation available.
Show »
Length:875
Mass (Da):100,091
Checksum:i7D70836A6FDA674A
GO
Isoform 3 (identifier: Q8C9J3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     452-456: NMVGE → VHTNM
     457-1724: Missing.

Show »
Length:456
Mass (Da):53,886
Checksum:i614A16FA4EEA74CC
GO
Isoform 4 (identifier: Q8C9J3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     138-138: E → ERLKNLIPRQTDFNLMRVTCRFQEKCKQMKEDLARMNFEKFEKIQKLEEEQRHFNIEK
     873-873: S → SETQHGKQESQPEGKGKK

Show »
Length:1,798
Mass (Da):207,021
Checksum:i7A07496096FA2A72
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E0CX63E0CX63_MOUSE
Sperm flagellar protein 2
Spef2
622Annotation score:
E0CY95E0CY95_MOUSE
Sperm flagellar protein 2
Spef2
513Annotation score:
A0A140LIV1A0A140LIV1_MOUSE
Sperm flagellar protein 2
Spef2
2,076Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1146A → T in AEA11026 (PubMed:21715716).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_059848138E → ERLKNLIPRQTDFNLMRVTC RFQEKCKQMKEDLARMNFEK FEKIQKLEEEQRHFNIEK in isoform 4. 1
Alternative sequenceiVSP_027526452 – 456NMVGE → VHTNM in isoform 3. 1 Publication5
Alternative sequenceiVSP_027527457 – 1724Missing in isoform 3. 1 PublicationAdd BLAST1268
Alternative sequenceiVSP_027528873 – 875SVS → SGD in isoform 2. 1 Publication3
Alternative sequenceiVSP_059849873S → SETQHGKQESQPEGKGKK in isoform 4. 1
Alternative sequenceiVSP_027529876 – 1724Missing in isoform 2. 1 PublicationAdd BLAST849

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
HQ856050 mRNA Translation: AEA11026.1
AK041992 mRNA Translation: BAC31126.1
AC133586 Genomic DNA No translation available.
AC133959 Genomic DNA No translation available.
BC132098 mRNA Translation: AAI32099.1
BC132288 mRNA Translation: AAI32289.1
CCDSiCCDS37041.1 [Q8C9J3-2]
CCDS84163.1 [Q8C9J3-3]
RefSeqiNP_001291971.1, NM_001305042.1
NP_001291973.1, NM_001305044.1 [Q8C9J3-3]
NP_796097.2, NM_177123.4 [Q8C9J3-2]
UniGeneiMm.127822
Mm.458360

Genome annotation databases

EnsembliENSMUST00000041840; ENSMUSP00000035762; ENSMUSG00000072663 [Q8C9J3-2]
ENSMUST00000159368; ENSMUSP00000124723; ENSMUSG00000072663 [Q8C9J3-3]
ENSMUST00000160236; ENSMUSP00000124222; ENSMUSG00000072663 [Q8C9J3-1]
GeneIDi320277
KEGGimmu:320277
UCSCiuc007vfq.2 mouse [Q8C9J3-2]
uc007vfr.2 mouse [Q8C9J3-3]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
HQ856050 mRNA Translation: AEA11026.1
AK041992 mRNA Translation: BAC31126.1
AC133586 Genomic DNA No translation available.
AC133959 Genomic DNA No translation available.
BC132098 mRNA Translation: AAI32099.1
BC132288 mRNA Translation: AAI32289.1
CCDSiCCDS37041.1 [Q8C9J3-2]
CCDS84163.1 [Q8C9J3-3]
RefSeqiNP_001291971.1, NM_001305042.1
NP_001291973.1, NM_001305044.1 [Q8C9J3-3]
NP_796097.2, NM_177123.4 [Q8C9J3-2]
UniGeneiMm.127822
Mm.458360

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8C9J3, 1 interactor
STRINGi10090.ENSMUSP00000035762

PTM databases

iPTMnetiQ8C9J3
PhosphoSitePlusiQ8C9J3

Proteomic databases

MaxQBiQ8C9J3
PaxDbiQ8C9J3
PRIDEiQ8C9J3

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000041840; ENSMUSP00000035762; ENSMUSG00000072663 [Q8C9J3-2]
ENSMUST00000159368; ENSMUSP00000124723; ENSMUSG00000072663 [Q8C9J3-3]
ENSMUST00000160236; ENSMUSP00000124222; ENSMUSG00000072663 [Q8C9J3-1]
GeneIDi320277
KEGGimmu:320277
UCSCiuc007vfq.2 mouse [Q8C9J3-2]
uc007vfr.2 mouse [Q8C9J3-3]

Organism-specific databases

CTDi79925
MGIiMGI:2443727 Spef2

Phylogenomic databases

eggNOGiENOG410IEY9 Eukaryota
ENOG410XS1Z LUCA
GeneTreeiENSGT00390000008160
HOGENOMiHOG000008124
HOVERGENiHBG108505
InParanoidiQ8C9J3
OMAiEMQTMQP
PhylomeDBiQ8C9J3
TreeFamiTF329522

Miscellaneous databases

PROiPR:Q8C9J3
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000072663 Expressed in 36 organ(s), highest expression level in olfactory epithelium
CleanExiMM_SPEF2
ExpressionAtlasiQ8C9J3 baseline and differential
GenevisibleiQ8C9J3 MM

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_MOUSE
AccessioniPrimary (citable) accession number: Q8C9J3
Secondary accession number(s): A2RSG5, E0CYG3, G0Z098
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: October 10, 2018
Last modified: November 7, 2018
This is version 110 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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