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Q07617

- SPAG1_HUMAN

UniProt

Q07617 - SPAG1_HUMAN

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Protein
Sperm-associated antigen 1
Gene
SPAG1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi781 – 7888GTP Reviewed prediction

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW
  2. hydrolase activity Source: UniProtKB-KW

GO - Biological processi

  1. axonemal dynein complex assembly Source: UniProtKB
  2. single fertilization Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Fertilization

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Sperm-associated antigen 1
Alternative name(s):
HSD-3.8
Infertility-related sperm protein Spag-1
Gene namesi
Name:SPAG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:11212. SPAG1.

Subcellular locationi

Cytoplasm
Note: Colocalizes with tubulin.2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. microtubule cytoskeleton Source: HPA
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 28 (CILD28) [MIM:615505]: 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.1 Publication

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi615505. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA36049.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 926926Sperm-associated antigen 1
PRO_0000106324Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei347 – 3471Phosphoserine1 Publication
Modified residuei791 – 7911Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ07617.
PaxDbiQ07617.
PRIDEiQ07617.

PTM databases

PhosphoSiteiQ07617.

Expressioni

Tissue specificityi

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.4 Publications

Gene expression databases

BgeeiQ07617.
CleanExiHS_SPAG1.
GenevestigatoriQ07617.

Organism-specific databases

HPAiHPA023748.

Interactioni

Protein-protein interaction databases

BioGridi112556. 4 interactions.
STRINGi9606.ENSP00000251809.

Structurei

3D structure databases

ProteinModelPortaliQ07617.
SMRiQ07617. Positions 171-361, 422-565, 621-786.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati209 – 24234TPR 1
Add
BLAST
Repeati244 – 27532TPR 2
Add
BLAST
Repeati276 – 30934TPR 3
Add
BLAST
Repeati445 – 47834TPR 4
Add
BLAST
Repeati487 – 52034TPR 5
Add
BLAST
Repeati522 – 55433TPR 6
Add
BLAST
Repeati623 – 65634TPR 7
Add
BLAST
Repeati657 – 69034TPR 8
Add
BLAST
Repeati692 – 72433TPR 9
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi422 – 4287Poly-Ala

Sequence similaritiesi

Contains 9 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
HOGENOMiHOG000293399.
HOVERGENiHBG079204.
InParanoidiQ07617.
OMAiIEAKMEL.
OrthoDBiEOG75QR4W.
PhylomeDBiQ07617.
TreeFamiTF106251.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR025986. RPAP3-like_C.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13877. RPAP3_C. 1 hit.
PF00515. TPR_1. 4 hits.
[Graphical view]
SMARTiSM00028. TPR. 9 hits.
[Graphical view]
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q07617-1) [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

MTTKDYPSLW GFGTTKTFKI PIEHLDFKYI EKCSDVKHLE KILCVLRSGE    50
EGYYPELTEF CEKHLQALAP ESRALRKDKP AATAASFTAE EWEKIDGDIK 100
SWVSEIKKEE DKMHFHETET FPAMKDNLPP VRGSNSCLHV GKEKYSKRPT 150
KKKTPRDYAE WDKFDVEKEC LKIDEDYKEK TVIDKSHLSK IETRIDTAGL 200
TEKEKDFLAT REKEKGNEAF NSGDYEEAVM YYTRSISALP TVVAYNNRAQ 250
AEIKLQNWNS AFQDCEKVLE LEPGNVKALL RRATTYKHQN KLREATEDLS 300
KVLDVEPDND LAKKTLSEVE RDLKNSEAAS ETQTKGKRMV IQEIENSEDE 350
EGKSGRKHED GGGDKKPAEP AGAARAAQPC VMGNIQKKLT GKAEGGKRPA 400
RGAPQRGQTP EAGADKRSPR RASAAAAAGG GATGHPGGGQ GAENPAGLKS 450
QGNELFRSGQ FAEAAGKYSA AIALLEPAGS EIADDLSILY SNRAACYLKE 500
GNCSGCIQDC NRALELHPFS MKPLLRRAMA YETLEQYGKA YVDYKTVLQI 550
DCGLQLANDS VNRLSRILME LDGPNWREKL SPIPAVPASV PLQAWHPAKE 600
MISKQAGDSS SHRQQGITDE KTFKALKEEG NQCVNDKNYK DALSKYSECL 650
KINNKECAIY TNRALCYLKL CQFEEAKQDC DQALQLADGN VKAFYRRALA 700
HKGLKNYQKS LIDLNKVILL DPSIIEAKME LEEVTRLLNL KDKTAPFNKE 750
KERRKIEIQE VNEGKEEPGR PAGEVSMGCL ASEKGGKSSR SPEDPEKLPI 800
AKPNNAYEFG QIINALSTRK DKEACAHLLA ITAPKDLPMF LSNKLEGDTF 850
LLLIQSLKNN LIEKDPSLVY QHLLYLSKAE RFKMMLTLIS KGQKELIEQL 900
FEDLSDTPNN HFTLEDIQAL KRQYEL 926
Length:926
Mass (Da):103,639
Last modified:February 10, 2009 - v3
Checksum:i947E460842AD9615
GO
Isoform 2 (identifier: Q07617-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:416
Mass (Da):48,031
Checksum:i369ECA250ED387EE
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti331 – 3311E → K.
Corresponds to variant rs17335870 [ dbSNP | Ensembl ].
VAR_054324
Natural varianti777 – 7771M → T.1 Publication
Corresponds to variant rs6511 [ dbSNP | Ensembl ].
VAR_054325
Natural varianti827 – 8271H → Y.
Corresponds to variant rs6510 [ dbSNP | Ensembl ].
VAR_054326

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei366 – 41651KPAEP…AGADK → SKIFFLFRLCKKLPFNMMSW LNFSIRTEIRNLSVFLALPC KFTSQFRSSFS in isoform 2.
VSP_054290Add
BLAST
Alternative sequencei417 – 926510Missing in isoform 2.
VSP_054291Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti187 – 1871H → R in AAG23967. 1 Publication
Sequence conflicti195 – 1951I → V in BAG51920. 1 Publication
Sequence conflicti655 – 6551K → T in AAG23967. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS34930.1. [Q07617-1]
RefSeqiNP_003105.2. NM_003114.4. [Q07617-1]
NP_757367.1. NM_172218.2. [Q07617-1]
XP_006716682.1. XM_006716619.1. [Q07617-1]
UniGeneiHs.591866.

Genome annotation databases

EnsembliENST00000251809; ENSP00000251809; ENSG00000104450.
ENST00000388798; ENSP00000373450; ENSG00000104450.
ENST00000520508; ENSP00000428070; ENSG00000104450.
ENST00000520643; ENSP00000427716; ENSG00000104450.
GeneIDi6674.
KEGGihsa:6674.
UCSCiuc003yjg.1. human.
uc003yjh.2. human. [Q07617-1]

Polymorphism databases

DMDMi223634718.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS34930.1. [Q07617-1 ]
RefSeqi NP_003105.2. NM_003114.4. [Q07617-1 ]
NP_757367.1. NM_172218.2. [Q07617-1 ]
XP_006716682.1. XM_006716619.1. [Q07617-1 ]
UniGenei Hs.591866.

3D structure databases

ProteinModelPortali Q07617.
SMRi Q07617. Positions 171-361, 422-565, 621-786.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112556. 4 interactions.
STRINGi 9606.ENSP00000251809.

PTM databases

PhosphoSitei Q07617.

Polymorphism databases

DMDMi 223634718.

Proteomic databases

MaxQBi Q07617.
PaxDbi Q07617.
PRIDEi Q07617.

Protocols and materials databases

DNASUi 6674.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251809 ; ENSP00000251809 ; ENSG00000104450 .
ENST00000388798 ; ENSP00000373450 ; ENSG00000104450 .
ENST00000520508 ; ENSP00000428070 ; ENSG00000104450 .
ENST00000520643 ; ENSP00000427716 ; ENSG00000104450 .
GeneIDi 6674.
KEGGi hsa:6674.
UCSCi uc003yjg.1. human.
uc003yjh.2. human. [Q07617-1 ]

Organism-specific databases

CTDi 6674.
GeneCardsi GC08P101170.
H-InvDB HIX0201290.
HGNCi HGNC:11212. SPAG1.
HPAi HPA023748.
MIMi 603395. gene.
615505. phenotype.
neXtProti NX_Q07617.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA36049.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
HOGENOMi HOG000293399.
HOVERGENi HBG079204.
InParanoidi Q07617.
OMAi IEAKMEL.
OrthoDBi EOG75QR4W.
PhylomeDBi Q07617.
TreeFami TF106251.

Miscellaneous databases

GeneWikii SPAG1.
GenomeRNAii 6674.
NextBioi 26021.
PROi Q07617.
SOURCEi Search...

Gene expression databases

Bgeei Q07617.
CleanExi HS_SPAG1.
Genevestigatori Q07617.

Family and domain databases

Gene3Di 1.25.40.10. 3 hits.
InterProi IPR025986. RPAP3-like_C.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF13877. RPAP3_C. 1 hit.
PF00515. TPR_1. 4 hits.
[Graphical view ]
SMARTi SM00028. TPR. 9 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 8 hits.
PS50293. TPR_REGION. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. 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. Cited for: INVOLMENT IN CILD28, TISSUE SPECIFICITY.

Entry informationi

Entry nameiSPAG1_HUMAN
AccessioniPrimary (citable) accession number: Q07617
Secondary accession number(s): A6NP70
, B3KQ58, G3XAM3, Q7Z5G1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 10, 2009
Last modified: September 3, 2014
This is version 125 of the entry and version 3 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

Miscellaneous

Antibodies against SPAG1 interfere with fertilization By similarity.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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

External Data

Dasty 3

Similar proteinsi