Reviewed,
UniProtKB/Swiss-Prot Q5M775 (SPEC1_HUMAN)
Last modified
June 16, 2009.
Version 42.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended 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 |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1068 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subcellular location | |
| 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 component | Nucleus |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Cellular component | nucleus 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1068 | 1068 | Sperm antigen with calponin homology and coiled-coil domains 1 | PRO_0000254033 | |||||
Regions | |||||||||
| Domain | 962 – 1064 | 103 | CH | ||||||
| Coiled coil | 579 – 773 | 195 | Potential | ||||||
| Compositional bias | 260 – 372 | 113 | Ser-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 112 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 120 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 131 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 134 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 138 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 142 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 218 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 360 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 361 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 366 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 847 | 1 | Phosphoserine Ref.8 Ref.7 | ||||||
| Modified residue | 863 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 912 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 94 | 94 | MRSAA…LRSGT → MGNHSGRPEDPEP in isoform 3, isoform 4 and isoform 5. | VSP_021162 | |||||
| Alternative sequence | 785 – 1068 | 284 | Missing in isoform 5. | VSP_021163 | |||||
| Alternative sequence | 785 – 790 | 6 | PVDEEP → SLGSVS in isoform 2 and isoform 3. | VSP_021164 | |||||
| Alternative sequence | 791 – 1068 | 278 | Missing in isoform 2 and isoform 3. | VSP_021165 | |||||
| Natural variant | 274 | 1 | S → R: dbSNP rs9908032. Ref.1 | VAR_053055 | |||||
| Natural variant | 293 | 1 | M → L: dbSNP rs2703806. Ref.2 Ref.1 Ref.3 Ref.4 | VAR_028800 | |||||
| Natural variant | 769 | 1 | D → N: dbSNP rs35835131. | VAR_053056 | |||||
Experimental info | |||||||||
| Sequence conflict | 164 – 170 | 7 | AALESQV → VRLSPKF in BAB16440. Ref.1 | ||||||
| Sequence conflict | 179 | 1 | A → S in BAB16440. Ref.1 | ||||||
| Sequence conflict | 179 | 1 | A → S in AAW30001. Ref.2 | ||||||
| Sequence conflict | 330 | 1 | D → N in AAH50058. Ref.4 | ||||||
| Sequence conflict | 359 | 1 | G → R in AAH50058. Ref.4 | ||||||
| Sequence conflict | 364 | 1 | S → I in AAH33618. Ref.4 | ||||||
| Sequence conflict | 382 | 1 | E → G in AAW29999. Ref.2 | ||||||
| Sequence conflict | 382 | 1 | E → G in AAW30000. Ref.2 | ||||||
| Sequence conflict | 382 | 1 | E → G in AAW30002. Ref.2 | ||||||
| Sequence conflict | 434 – 435 | 2 | EQ → DE in AAH50058. Ref.4 | ||||||
| Sequence conflict | 831 | 1 | R → G in AAW30000. Ref.2 | ||||||
| Sequence conflict | 831 | 1 | R → G in AAW30002. Ref.2 | ||||||
Sequences
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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. 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. | |
| IPI | IPI00030738. IPI00291032. IPI00651629. IPI00651654. IPI00791003. |
| RefSeq | NP_001028725.1. NP_001028726.1. NP_001028727.1. NP_690868.3. |
| UniGene | Hs.431045 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q5M775. |
Proteomic databases | |
| PRIDE | Q5M775. |
Genome annotation databases | |
| Ensembl | ENSG00000128487. Homo sapiens. [Contig view] |
| GeneID | 92521. |
| KEGG | hsa:92521. |
Organism-specific databases | |
| GeneCards | GC17P019854. |
| HGNC | HGNC:30615. SPECC1. |
| MIM | 608793. gene. |
| PharmGKB | PA142670882. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q5M775. |
| OMA | Q5M775. AKDSEIN. |
Gene expression databases | |
| ArrayExpress | Q5M775. |
| Bgee | Q5M775. |
Family and domain databases | |
| InterPro | IPR001715. Calponin_act_bd. [Graphical view] |
| Gene3D | G3DSA:1.10.418.10. Calponin-homology. 1 hit. |
| Pfam | PF00307. CH. 1 hit. [Graphical view] |
| SMART | SM00033. CH. 1 hit. [Graphical view] |
| PROSITE | PS50021. CH. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 77778. |
| SOURCE | Search... |
Entry information
| Entry name | SPEC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5M775 Secondary accession number(s): B4DHH0 Q9HCQ3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (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 |

Clusters with


