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Reviewed, UniProtKB/Swiss-Prot Q5M775 (SPEC1_HUMAN)

Last modified June 16, 2009. Version 42. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Sperm antigen with calponin homology and coiled-coil domains 1
Alternative name(s):
    Nuclear structure protein 5
      Short name=NSP5
    Sperm antigen HCMOGT-1
Gene names
Name: SPECC1
Synonyms: NSP5
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1068 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Subcellular location

Nucleus. Ref.2

Tissue specificity

Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some cancer cell lines. Ref.2

Involvement in disease

A chromosomal aberration involving SPECC1 may be a cause of juvenile myelomonocytic leukemia. Translocation t(5;17)(q33;p11.2) with PDGFRB.

Sequence similarities

Belongs to the cytospin-A family.

Contains 1 CH (calponin-homology) domain.

Sequence caution

The sequence BAB16440.1 differs from that shown. Reason: Frameshift at position 8.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseProto-oncogene
   DomainCoiled coil
   PTMPhosphoprotein
Gene Ontology (GO)
   Cellular componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5M775-1)

Also known as: NSP5beta3beta;

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: Q5M775-2)

Also known as: NSP5beta3alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     785-790: PVDEEP → SLGSVS
     791-1068: Missing.
Isoform 3 (identifier: Q5M775-3)

Also known as: NSP5alpha3alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MRSAAKPWNP...LTESRLRSGT → MGNHSGRPEDPEP
     785-790: PVDEEP → SLGSVS
     791-1068: Missing.
Isoform 4 (identifier: Q5M775-4)

Also known as: NSP5alpha3beta;

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MRSAAKPWNP...LTESRLRSGT → MGNHSGRPEDPEP
Isoform 5 (identifier: Q5M775-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MRSAAKPWNP...LTESRLRSGT → MGNHSGRPEDPEP
     785-1068: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10681068Sperm antigen with calponin homology and coiled-coil domains 1
PRO_0000254033

Regions

Domain962 – 1064103CH
Coiled coil579 – 773195 Potential
Compositional bias260 – 372113Ser-rich

Amino acid modifications

Modified residue1121Phosphoserine By similarity
Modified residue1201Phosphoserine By similarity
Modified residue1311Phosphoserine Ref.8
Modified residue1341Phosphoserine Ref.8
Modified residue1381Phosphoserine Ref.8
Modified residue1421Phosphothreonine Ref.8
Modified residue2181Phosphoserine Ref.8
Modified residue3601Phosphoserine Ref.6
Modified residue3611Phosphoserine Ref.6
Modified residue3661Phosphoserine Ref.6
Modified residue8471Phosphoserine Ref.8 Ref.7
Modified residue8631Phosphoserine Ref.8
Modified residue9121Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 9494MRSAA…LRSGT → MGNHSGRPEDPEP in isoform 3, isoform 4 and isoform 5.
VSP_021162
Alternative sequence785 – 1068284Missing in isoform 5.
VSP_021163
Alternative sequence785 – 7906PVDEEP → SLGSVS in isoform 2 and isoform 3.
VSP_021164
Alternative sequence791 – 1068278Missing in isoform 2 and isoform 3.
VSP_021165
Natural variant2741S → R: dbSNP rs9908032. Ref.1
VAR_053055
Natural variant2931M → L: dbSNP rs2703806. Ref.2 Ref.1 Ref.3 Ref.4
VAR_028800
Natural variant7691D → N: dbSNP rs35835131.
VAR_053056

Experimental info

Sequence conflict164 – 1707AALESQV → VRLSPKF in BAB16440. Ref.1
Sequence conflict1791A → S in BAB16440. Ref.1
Sequence conflict1791A → S in AAW30001. Ref.2
Sequence conflict3301D → N in AAH50058. Ref.4
Sequence conflict3591G → R in AAH50058. Ref.4
Sequence conflict3641S → I in AAH33618. Ref.4
Sequence conflict3821E → G in AAW29999. Ref.2
Sequence conflict3821E → G in AAW30000. Ref.2
Sequence conflict3821E → G in AAW30002. Ref.2
Sequence conflict434 – 4352EQ → DE in AAH50058. Ref.4
Sequence conflict8311R → G in AAW30000. Ref.2
Sequence conflict8311R → G in AAW30002. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (NSP5beta3beta) [UniParc].

Last modified February 1, 2005. Version 1.
Checksum: E6FB6987C835A1CA

FASTA1,068118,585
        10         20         30         40         50         60 
MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN 

        70         80         90        100        110        120 
KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS 

       130        140        150        160        170        180 
VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK 

       190        200        210        220        230        240 
DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL 

       250        260        270        280        290        300 
SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQMSSDIDEY 

       310        320        330        340        350        360 
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS 

       370        380        390        400        410        420 
SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT 

       430        440        450        460        470        480 
ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE 

       490        500        510        520        530        540 
REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC 

       550        560        570        580        590        600 
RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE 

       610        620        630        640        650        660 
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD 

       670        680        690        700        710        720 
MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE 

       730        740        750        760        770        780 
WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR 

       790        800        810        820        830        840 
AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS 

       850        860        870        880        890        900 
VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT 

       910        920        930        940        950        960 
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY 

       970        980        990       1000       1010       1020 
GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK 

      1030       1040       1050       1060 
RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET 

« Hide

Isoform 2 (NSP5beta3alpha).

Checksum: EBA37084509E44BF
Show »

FASTA79087,888
Isoform 3 (NSP5alpha3alpha).

Checksum: B381B7FE6D6AF509
Show »

FASTA70979,546
Isoform 4 (NSP5alpha3beta).

Checksum: AC1AB9E2C3C29B8B
Show »

FASTA987110,242
Isoform 5.

Checksum: 150996E18DC39F99
Show »

FASTA70379,015

References

« Hide 'large scale' references
[1]Komori S.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS ARG-274 AND LEU-293.
Tissue: Testis.
[2]"A gene highly expressed in tumor cells encodes novel structure proteins."
Sang N., Fath D.M., Giordano A.
Oncogene 23:9438-9446(2004) [PubMed: 15602574] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT LEU-293, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Tissue: Testis.
[3]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-293.
Tissue: Brain.
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 4 AND 5), VARIANT LEU-293.
Tissue: Brain, Skin and Testis.
[5]"HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2)."
Morerio C., Acquila M., Rosanda C., Rapella A., Dufour C., Locatelli F., Maserati E., Pasquali F., Panarello C.
Cancer Res. 64:2649-2651(2004) [PubMed: 15087372] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH PDGFRB.
[6]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed: 17081983] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360; SER-361 AND SER-366, MASS SPECTROMETRY.
Tissue: Epithelium.
[7]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-847, MASS SPECTROMETRY.
[8]"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: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131; SER-134; SER-138; THR-142; SER-218; SER-847; SER-863 AND SER-912, MASS SPECTROMETRY.

Cross-references

Sequence databases

AB041533 mRNA. Translation: BAB16440.1. Frameshift.
AY816326 mRNA. Translation: AAW29999.1.
AY816327 mRNA. Translation: AAW30000.1.
AY816328 mRNA. Translation: AAW30001.1.
AY816329 mRNA. Translation: AAW30002.1.
BK005598 Genomic DNA. Translation: DAA05629.1.
BK005598 Genomic DNA. Translation: DAA05630.1.
BK005598 Genomic DNA. Translation: DAA05631.1.
BK005598 Genomic DNA. Translation: DAA05632.1.
AK295093 mRNA. Translation: BAG58132.1.
BC021123 mRNA. Translation: AAH21123.2.
BC033618 mRNA. Translation: AAH33618.1. Different initiation.
BC050058 mRNA. Translation: AAH50058.1.
IPIIPI00030738.
IPI00291032.
IPI00651629.
IPI00651654.
IPI00791003.
RefSeqNP_001028725.1.
NP_001028726.1.
NP_001028727.1.
NP_690868.3.
UniGeneHs.431045

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ5M775.

Proteomic databases

PRIDEQ5M775.

Genome annotation databases

EnsemblENSG00000128487. Homo sapiens. [Contig view]
GeneID92521.
KEGGhsa:92521.

Organism-specific databases

GeneCardsGC17P019854.
HGNCHGNC:30615. SPECC1.
MIM608793. gene.
PharmGKBPA142670882.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ5M775.
OMAQ5M775. AKDSEIN.

Gene expression databases

ArrayExpressQ5M775.
BgeeQ5M775.

Family and domain databases

InterProIPR001715. Calponin_act_bd.
[Graphical view]
Gene3DG3DSA:1.10.418.10. Calponin-homology. 1 hit.
PfamPF00307. CH. 1 hit.
[Graphical view]
SMARTSM00033. CH. 1 hit.
[Graphical view]
PROSITEPS50021. CH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio77778.
SOURCESearch...

Entry information

Entry nameSPEC1_HUMAN
AccessionPrimary (citable) accession number: Q5M775
Secondary accession number(s): B4DHH0 expand/collapse secondary AC list , Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: February 1, 2005
Last modified: June 16, 2009
This is version 42 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents