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Q07617 (SPAG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sperm-associated antigen 1
Alternative name(s):
HSD-3.8
Infertility-related sperm protein Spag-1
Gene names
Name:SPAG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length926 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in the cytoplasmic assembly of the ciliary dynein arms By similarity. May play a role in fertilization. Binds GTP and has GTPase activity. Ref.1 Ref.6

Subcellular location

Cytoplasm. Note: Colocalizes with tubulin. Ref.1 Ref.8

Tissue specificity

Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and not in normal pancreatic tissue. Ref.1 Ref.6 Ref.8 Ref.9

Involvement in disease

Ciliary dyskinesia, primary, 28 (CILD28) [MIM:0200072]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Miscellaneous

Antibodies against SPAG1 interfere with fertilization By similarity.

Sequence similarities

Contains 9 TPR repeats.

Sequence caution

The sequence AAH55091.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
   Biological processFertilization
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Primary ciliary dyskinesia
   DomainRepeat
TPR repeat
   LigandGTP-binding
Nucleotide-binding
   Molecular functionHydrolase
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxonemal dynein complex assembly

Inferred from sequence or structural similarity. Source: UniProtKB

single fertilization

Traceable author statement Ref.6. Source: ProtInc

   Cellular_componentcytoplasm

Inferred from direct assay Ref.8. Source: UniProtKB

microtubule cytoskeleton

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionGTP binding

Inferred from electronic annotation. Source: UniProtKB-KW

hydrolase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q07617-1)

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.
Isoform 2 (identifier: Q07617-2)

The sequence of this isoform differs from the canonical sequence as follows:
     366-416: KPAEPAGAAR...GQTPEAGADK → SKIFFLFRLC...FTSQFRSSFS
     417-926: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 926926Sperm-associated antigen 1
PRO_0000106324

Regions

Repeat209 – 24234TPR 1
Repeat244 – 27532TPR 2
Repeat276 – 30934TPR 3
Repeat445 – 47834TPR 4
Repeat487 – 52034TPR 5
Repeat522 – 55433TPR 6
Repeat623 – 65634TPR 7
Repeat657 – 69034TPR 8
Repeat692 – 72433TPR 9
Nucleotide binding781 – 7888GTP Potential
Compositional bias422 – 4287Poly-Ala

Amino acid modifications

Modified residue3471Phosphoserine Ref.7
Modified residue7911Phosphoserine Ref.7

Natural variations

Alternative sequence366 – 41651KPAEP…AGADK → SKIFFLFRLCKKLPFNMMSW LNFSIRTEIRNLSVFLALPC KFTSQFRSSFS in isoform 2.
VSP_054290
Alternative sequence417 – 926510Missing in isoform 2.
VSP_054291
Natural variant3311E → K.
Corresponds to variant rs17335870 [ dbSNP | Ensembl ].
VAR_054324
Natural variant7771M → T. Ref.1
Corresponds to variant rs6511 [ dbSNP | Ensembl ].
VAR_054325
Natural variant8271H → Y.
Corresponds to variant rs6510 [ dbSNP | Ensembl ].
VAR_054326

Experimental info

Sequence conflict1871H → R in AAG23967. Ref.1
Sequence conflict1951I → V in BAG51920. Ref.2
Sequence conflict6551K → T in AAG23967. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 10, 2009. Version 3.
Checksum: 947E460842AD9615

FASTA926103,639
        10         20         30         40         50         60 
MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE EGYYPELTEF 

        70         80         90        100        110        120 
CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK SWVSEIKKEE DKMHFHETET 

       130        140        150        160        170        180 
FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK 

       190        200        210        220        230        240 
TVIDKSHLSK IETRIDTAGL TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP 

       250        260        270        280        290        300 
TVVAYNNRAQ AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS 

       310        320        330        340        350        360 
KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE EGKSGRKHED 

       370        380        390        400        410        420 
GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA RGAPQRGQTP EAGADKRSPR 

       430        440        450        460        470        480 
RASAAAAAGG GATGHPGGGQ GAENPAGLKS QGNELFRSGQ FAEAAGKYSA AIALLEPAGS 

       490        500        510        520        530        540 
EIADDLSILY SNRAACYLKE GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA 

       550        560        570        580        590        600 
YVDYKTVLQI DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE 

       610        620        630        640        650        660 
MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL KINNKECAIY 

       670        680        690        700        710        720 
TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA HKGLKNYQKS LIDLNKVILL 

       730        740        750        760        770        780 
DPSIIEAKME LEEVTRLLNL KDKTAPFNKE KERRKIEIQE VNEGKEEPGR PAGEVSMGCL 

       790        800        810        820        830        840 
ASEKGGKSSR SPEDPEKLPI AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF 

       850        860        870        880        890        900 
LSNKLEGDTF LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL 

       910        920 
FEDLSDTPNN HFTLEDIQAL KRQYEL 

« Hide

Isoform 2 [UniParc].

Checksum: 369ECA250ED387EE
Show »

FASTA41648,031

References

« Hide 'large scale' references
[1]"Expression and function of the HSD-3.8 gene encoding a testis-specific protein."
Lin W., Zhou X.F., Zhang M.L., Li Y., Miao S.Y., Wang L.F., Zong S.D., Koide S.S.
Mol. Hum. Reprod. 7:811-818(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT THR-777.
Tissue: Testis.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-153.
Tissue: Testis.
[6]"Isolation and sequencing of the cDNA encoding the 75-kD human sperm protein related to infertility."
Zhang M.L., Wang L.F., Miao S.Y., Koide S.S.
Chin. Med. J. 105:998-1003(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-347 AND SER-791, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Sperm-associated antigen 1 is expressed early in pancreatic tumorigenesis and promotes motility of cancer cells."
Neesse A., Gangeswaran R., Luettges J., Feakins R., Weeks M.E., Lemoine N.R., Crnogorac-Jurcevic T.
Oncogene 26:1533-1545(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[9]"Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms."
Knowles M.R., Ostrowski L.E., Loges N.T., Hurd T., Leigh M.W., Huang L., Wolf W.E., Carson J.L., Hazucha M.J., Yin W., Davis S.D., Dell S.D., Ferkol T.W., Sagel S.D., Olivier K.N., Jahnke C., Olbrich H., Werner C. expand/collapse author list , Raidt J., Wallmeier J., Pennekamp P., Dougherty G.W., Hjeij R., Gee H.Y., Otto E.A., Halbritter J., Chaki M., Diaz K.A., Braun D.A., Porath J.D., Schueler M., Baktai G., Griese M., Turner E.H., Lewis A.P., Bamshad M.J., Nickerson D.A., Hildebrandt F., Shendure J., Omran H., Zariwala M.A.
Am. J. Hum. Genet. 93:711-720(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLMENT IN CILD28, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF311312 mRNA. Translation: AAG23967.1.
AK057482 mRNA. Translation: BAG51920.1.
AC025647 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91800.1.
BC055091 mRNA. Translation: AAH55091.1. Sequence problems.
CCDSCCDS34930.1.
RefSeqNP_003105.2. NM_003114.4. [Q07617-1]
NP_757367.1. NM_172218.2. [Q07617-1]
XP_006716682.1. XM_006716619.1. [Q07617-1]
UniGeneHs.591866.

3D structure databases

ProteinModelPortalQ07617.
SMRQ07617. Positions 171-361, 422-565, 621-786.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112556. 4 interactions.
STRING9606.ENSP00000251809.

PTM databases

PhosphoSiteQ07617.

Polymorphism databases

DMDM223634718.

Proteomic databases

MaxQBQ07617.
PaxDbQ07617.
PRIDEQ07617.

Protocols and materials databases

DNASU6674.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251809; ENSP00000251809; ENSG00000104450.
ENST00000388798; ENSP00000373450; ENSG00000104450.
ENST00000520508; ENSP00000428070; ENSG00000104450.
ENST00000520643; ENSP00000427716; ENSG00000104450.
GeneID6674.
KEGGhsa:6674.
UCSCuc003yjh.2. human. [Q07617-1]

Organism-specific databases

CTD6674.
GeneCardsGC08P101170.
H-InvDBHIX0201290.
HGNCHGNC:11212. SPAG1.
HPAHPA023748.
MIM603395. gene.
615505. phenotype.
neXtProtNX_Q07617.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA36049.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOGENOMHOG000293399.
HOVERGENHBG079204.
InParanoidQ07617.
OMAIEAKMEL.
OrthoDBEOG75QR4W.
PhylomeDBQ07617.
TreeFamTF106251.

Gene expression databases

BgeeQ07617.
CleanExHS_SPAG1.
GenevestigatorQ07617.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
InterProIPR025986. RPAP3-like_C.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF13877. RPAP3_C. 1 hit.
PF00515. TPR_1. 4 hits.
[Graphical view]
SMARTSM00028. TPR. 9 hits.
[Graphical view]
PROSITEPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSPAG1.
GenomeRNAi6674.
NextBio26021.
PROQ07617.
SOURCESearch...

Entry information

Entry nameSPAG1_HUMAN
AccessionPrimary (citable) accession number: Q07617
Secondary accession number(s): A6NP70 expand/collapse secondary AC list , B3KQ58, G3XAM3, Q7Z5G1
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 10, 2009
Last modified: July 9, 2014
This is version 124 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM