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Protein

Cytospin-B

Gene

SPECC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Cytospin-B
Alternative name(s):
Nuclear structure protein 5
Short name:
NSP5
Sperm antigen HCMOGT-1
Sperm antigen with calponin homology and coiled-coil domains 1
Gene namesi
Name:SPECC1
Synonyms:CYTSB, NSP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:30615. SPECC1.

Subcellular locationi

  • Nucleus 1 Publication
Isoform 3 :
Isoform 4 :
Isoform 5 :

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

PharmGKBiPA164718712.

Polymorphism and mutation databases

BioMutaiSPECC1.
DMDMi74722683.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10681068Cytospin-BPRO_0000254033Add
BLAST
Isoform 3 (identifier: Q5M775-3)
Initiator methionineiRemoved1 Publication
Isoform 4 (identifier: Q5M775-4)
Initiator methionineiRemoved1 Publication
Isoform 5 (identifier: Q5M775-5)
Initiator methionineiRemoved1 Publication

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei38 – 381PhosphoserineBy similarity
Modified residuei55 – 551PhosphoserineCombined sources
Modified residuei78 – 781PhosphothreonineCombined sources
Modified residuei112 – 1121PhosphoserineCombined sources
Modified residuei131 – 1311PhosphoserineCombined sources
Modified residuei134 – 1341PhosphoserineCombined sources
Modified residuei137 – 1371PhosphoserineBy similarity
Modified residuei138 – 1381PhosphoserineCombined sources
Modified residuei142 – 1421PhosphothreonineCombined sources
Modified residuei218 – 2181PhosphoserineCombined sources
Modified residuei241 – 2411PhosphoserineCombined sources
Modified residuei361 – 3611PhosphoserineBy similarity
Modified residuei366 – 3661PhosphoserineBy similarity
Modified residuei369 – 3691PhosphoserineBy similarity
Modified residuei425 – 4251PhosphoserineCombined sources
Modified residuei847 – 8471PhosphoserineCombined sources
Modified residuei863 – 8631PhosphoserineCombined sources
Modified residuei912 – 9121PhosphoserineCombined sources
Modified residuei914 – 9141PhosphoserineCombined sources
Isoform 3 (identifier: Q5M775-3)
Lipidationi2 – 21N-myristoyl glycine1 Publication
Isoform 4 (identifier: Q5M775-4)
Lipidationi2 – 21N-myristoyl glycine1 Publication
Isoform 5 (identifier: Q5M775-5)
Lipidationi2 – 21N-myristoyl glycine1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ5M775.
MaxQBiQ5M775.
PaxDbiQ5M775.
PeptideAtlasiQ5M775.
PRIDEiQ5M775.

PTM databases

iPTMnetiQ5M775.
PhosphoSiteiQ5M775.

Expressioni

Tissue specificityi

Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some cancer cell lines.1 Publication

Gene expression databases

BgeeiENSG00000128487.
ExpressionAtlasiQ5M775. baseline and differential.
GenevisibleiQ5M775. HS.

Organism-specific databases

HPAiHPA021421.
HPA021430.
HPA061073.

Interactioni

Protein-protein interaction databases

BioGridi124953. 49 interactions.
IntActiQ5M775. 46 interactions.
STRINGi9606.ENSP00000261503.

Structurei

3D structure databases

ProteinModelPortaliQ5M775.
SMRiQ5M775. Positions 963-1066.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini962 – 1064103CHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili579 – 773195Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi260 – 372113Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the cytospin-A family.Curated
Contains 1 CH (calponin-homology) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4678. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118856.
InParanoidiQ5M775.
OMAiVEKDYSY.
OrthoDBiEOG091G01BX.
PhylomeDBiQ5M775.
TreeFamiTF316716.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
[Graphical view]
PfamiPF00307. CH. 1 hit.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5M775-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL
60 70 80 90 100
KRASSEDTLN KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT
110 120 130 140 150
KRTGIPAPRE FSVTVSRERS VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP
160 170 180 190 200
STKPKQENEG GEKAALESQV RELLAEAKAK DSEINRLRSE LKKYKEKRTL
210 220 230 240 250
NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL SDLEEENRVL
260 270 280 290 300
KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQMSSDIDEY
310 320 330 340 350
KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF
360 370 380 390 400
KSSKCSTAGS SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD
410 420 430 440 450
QQQMVQELTA ENEKLVDEKT ILETSFHQHR ERAEQLSQEN EKLMNLLQER
460 470 480 490 500
VKNEEPTTQE GKIIELEQKC TGILEQGRFE REKLLNIQQQ LTCSLRKVEE
510 520 530 540 550
ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC RVTLEGLKME
560 570 580 590 600
NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
610 620 630 640 650
LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK
660 670 680 690 700
ASESDAEIKD MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK
710 720 730 740 750
SDLERQLKTL TKQMKEETEE WRRFQADLQT AVVVANDIKC EAQQELRTVK
760 770 780 790 800
RKLLEEEEKN ARLQKELGDV QGHGRVVTSR AAPPPVDEEP ESSEVDAAGR
810 820 830 840 850
WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS VHKTPRSPLS
860 870 880 890 900
GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
910 920 930 940 950
ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK
960 970 980 990 1000
DPLAALAREY GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL
1010 1020 1030 1040 1050
LHTYLPAHIP YQELNSQEKK RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP
1060
DWQSVMQYVA QIYKYFET
Length:1,068
Mass (Da):118,585
Last modified:February 1, 2005 - v1
Checksum:iE6FB6987C835A1CA
GO
Isoform 2 (identifier: Q5M775-2) [UniParc]FASTAAdd to basket
Also known as: NSP5beta3alpha

The sequence of this isoform differs from the canonical sequence as follows:
     785-790: PVDEEP → SLGSVS
     791-1068: Missing.

Show »
Length:790
Mass (Da):87,888
Checksum:iEBA37084509E44BF
GO
Isoform 3 (identifier: Q5M775-3) [UniParc]FASTAAdd to basket
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.

Show »
Length:709
Mass (Da):79,546
Checksum:iB381B7FE6D6AF509
GO
Isoform 4 (identifier: Q5M775-4) [UniParc]FASTAAdd to basket
Also known as: NSP5alpha3beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MRSAAKPWNP...LTESRLRSGT → MGNHSGRPEDPEP

Show »
Length:987
Mass (Da):110,242
Checksum:iAC1AB9E2C3C29B8B
GO
Isoform 5 (identifier: Q5M775-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MRSAAKPWNP...LTESRLRSGT → MGNHSGRPEDPEP
     785-1068: Missing.

Show »
Length:703
Mass (Da):79,015
Checksum:i150996E18DC39F99
GO

Sequence cautioni

The sequence AAH33618 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB16440 differs from that shown. Reason: Frameshift at position 8. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti164 – 1707AALESQV → VRLSPKF in BAB16440 (Ref. 1) Curated
Sequence conflicti179 – 1791A → S in BAB16440 (Ref. 1) Curated
Sequence conflicti179 – 1791A → S in AAW30001 (PubMed:15602574).Curated
Sequence conflicti330 – 3301D → N in AAH50058 (PubMed:15489334).Curated
Sequence conflicti359 – 3591G → R in AAH50058 (PubMed:15489334).Curated
Sequence conflicti364 – 3641S → I in AAH33618 (PubMed:15489334).Curated
Sequence conflicti382 – 3821E → G in AAW29999 (PubMed:15602574).Curated
Sequence conflicti382 – 3821E → G in AAW30000 (PubMed:15602574).Curated
Sequence conflicti382 – 3821E → G in AAW30002 (PubMed:15602574).Curated
Sequence conflicti434 – 4352EQ → DE in AAH50058 (PubMed:15489334).Curated
Sequence conflicti831 – 8311R → G in AAW30000 (PubMed:15602574).Curated
Sequence conflicti831 – 8311R → G in AAW30002 (PubMed:15602574).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741S → R.1 Publication
Corresponds to variant rs9908032 [ dbSNP | Ensembl ].
VAR_053055
Natural varianti293 – 2931M → L.4 Publications
Corresponds to variant rs2703806 [ dbSNP | Ensembl ].
VAR_028800
Natural varianti769 – 7691D → N.
Corresponds to variant rs35835131 [ dbSNP | Ensembl ].
VAR_053056

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9494MRSAA…LRSGT → MGNHSGRPEDPEP in isoform 3, isoform 4 and isoform 5. 2 PublicationsVSP_021162Add
BLAST
Alternative sequencei785 – 1068284Missing in isoform 5. 1 PublicationVSP_021163Add
BLAST
Alternative sequencei785 – 7906PVDEEP → SLGSVS in isoform 2 and isoform 3. 2 PublicationsVSP_021164
Alternative sequencei791 – 1068278Missing in isoform 2 and isoform 3. 2 PublicationsVSP_021165Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AC005730 Genomic DNA. No translation available.
BC021123 mRNA. Translation: AAH21123.2.
BC033618 mRNA. Translation: AAH33618.1. Different initiation.
BC050058 mRNA. Translation: AAH50058.1.
CCDSiCCDS32590.1. [Q5M775-1]
CCDS42280.1. [Q5M775-2]
CCDS42281.1. [Q5M775-4]
CCDS45628.1. [Q5M775-3]
CCDS58531.1. [Q5M775-5]
RefSeqiNP_001028725.1. NM_001033553.2. [Q5M775-1]
NP_001028726.1. NM_001033554.2. [Q5M775-3]
NP_001028727.1. NM_001033555.2. [Q5M775-4]
NP_001230367.1. NM_001243438.1. [Q5M775-5]
NP_001230368.1. NM_001243439.1. [Q5M775-1]
NP_690868.3. NM_152904.4. [Q5M775-2]
UniGeneiHs.431045.

Genome annotation databases

EnsembliENST00000261503; ENSP00000261503; ENSG00000128487. [Q5M775-1]
ENST00000395522; ENSP00000378893; ENSG00000128487. [Q5M775-5]
ENST00000395525; ENSP00000378896; ENSG00000128487. [Q5M775-3]
ENST00000395527; ENSP00000378898; ENSG00000128487. [Q5M775-1]
ENST00000395529; ENSP00000378900; ENSG00000128487. [Q5M775-2]
ENST00000395530; ENSP00000378901; ENSG00000128487. [Q5M775-4]
GeneIDi92521.
KEGGihsa:92521.
UCSCiuc002gwq.4. human. [Q5M775-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AC005730 Genomic DNA. No translation available.
BC021123 mRNA. Translation: AAH21123.2.
BC033618 mRNA. Translation: AAH33618.1. Different initiation.
BC050058 mRNA. Translation: AAH50058.1.
CCDSiCCDS32590.1. [Q5M775-1]
CCDS42280.1. [Q5M775-2]
CCDS42281.1. [Q5M775-4]
CCDS45628.1. [Q5M775-3]
CCDS58531.1. [Q5M775-5]
RefSeqiNP_001028725.1. NM_001033553.2. [Q5M775-1]
NP_001028726.1. NM_001033554.2. [Q5M775-3]
NP_001028727.1. NM_001033555.2. [Q5M775-4]
NP_001230367.1. NM_001243438.1. [Q5M775-5]
NP_001230368.1. NM_001243439.1. [Q5M775-1]
NP_690868.3. NM_152904.4. [Q5M775-2]
UniGeneiHs.431045.

3D structure databases

ProteinModelPortaliQ5M775.
SMRiQ5M775. Positions 963-1066.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124953. 49 interactions.
IntActiQ5M775. 46 interactions.
STRINGi9606.ENSP00000261503.

PTM databases

iPTMnetiQ5M775.
PhosphoSiteiQ5M775.

Polymorphism and mutation databases

BioMutaiSPECC1.
DMDMi74722683.

Proteomic databases

EPDiQ5M775.
MaxQBiQ5M775.
PaxDbiQ5M775.
PeptideAtlasiQ5M775.
PRIDEiQ5M775.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261503; ENSP00000261503; ENSG00000128487. [Q5M775-1]
ENST00000395522; ENSP00000378893; ENSG00000128487. [Q5M775-5]
ENST00000395525; ENSP00000378896; ENSG00000128487. [Q5M775-3]
ENST00000395527; ENSP00000378898; ENSG00000128487. [Q5M775-1]
ENST00000395529; ENSP00000378900; ENSG00000128487. [Q5M775-2]
ENST00000395530; ENSP00000378901; ENSG00000128487. [Q5M775-4]
GeneIDi92521.
KEGGihsa:92521.
UCSCiuc002gwq.4. human. [Q5M775-1]

Organism-specific databases

CTDi92521.
GeneCardsiSPECC1.
H-InvDBHIX0027112.
HGNCiHGNC:30615. SPECC1.
HPAiHPA021421.
HPA021430.
HPA061073.
MIMi608793. gene.
neXtProtiNX_Q5M775.
PharmGKBiPA164718712.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4678. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000118856.
InParanoidiQ5M775.
OMAiVEKDYSY.
OrthoDBiEOG091G01BX.
PhylomeDBiQ5M775.
TreeFamiTF316716.

Miscellaneous databases

ChiTaRSiSPECC1. human.
GeneWikiiSPECC1.
GenomeRNAii92521.
PROiQ5M775.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128487.
ExpressionAtlasiQ5M775. baseline and differential.
GenevisibleiQ5M775. HS.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
[Graphical view]
PfamiPF00307. CH. 1 hit.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS50021. CH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCYTSB_HUMAN
AccessioniPrimary (citable) accession number: Q5M775
Secondary accession number(s): B4DHH0
, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: February 1, 2005
Last modified: September 7, 2016
This is version 106 of the entry and version 1 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.