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Protein

Cytospin-B

Gene

SPECC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000128487.16
HGNCiHGNC:30615 SPECC1
MIMi608793 gene
neXtProtiNX_Q5M775

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi92521
OpenTargetsiENSG00000128487
PharmGKBiPA164718712

Polymorphism and mutation databases

BioMutaiSPECC1
DMDMi74722683

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002540331 – 1068Cytospin-BAdd BLAST1068
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)DescriptionActionsGraphical viewLength
Modified residuei38PhosphoserineBy similarity1
Modified residuei55PhosphoserineCombined sources1
Modified residuei78PhosphothreonineCombined sources1
Modified residuei112PhosphoserineCombined sources1
Modified residuei131PhosphoserineCombined sources1
Modified residuei134PhosphoserineCombined sources1
Modified residuei137PhosphoserineBy similarity1
Modified residuei138PhosphoserineCombined sources1
Modified residuei142PhosphothreonineCombined sources1
Modified residuei218PhosphoserineCombined sources1
Modified residuei241PhosphoserineCombined sources1
Modified residuei361PhosphoserineBy similarity1
Modified residuei366PhosphoserineBy similarity1
Modified residuei369PhosphoserineBy similarity1
Modified residuei425PhosphoserineCombined sources1
Modified residuei847PhosphoserineCombined sources1
Modified residuei863PhosphoserineCombined sources1
Modified residuei912PhosphoserineCombined sources1
Modified residuei914PhosphoserineCombined sources1
Isoform 3 (identifier: Q5M775-3)
Lipidationi2N-myristoyl glycine1 Publication1
Isoform 4 (identifier: Q5M775-4)
Lipidationi2N-myristoyl glycine1 Publication1
Isoform 5 (identifier: Q5M775-5)
Lipidationi2N-myristoyl glycine1 Publication1

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ5M775
MaxQBiQ5M775
PaxDbiQ5M775
PeptideAtlasiQ5M775
PRIDEiQ5M775

PTM databases

iPTMnetiQ5M775
PhosphoSitePlusiQ5M775

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

Interactioni

Protein-protein interaction databases

BioGridi124953, 58 interactors
IntActiQ5M775, 49 interactors
STRINGi9606.ENSP00000261503

Structurei

3D structure databases

ProteinModelPortaliQ5M775
SMRiQ5M775
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini962 – 1067Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST106

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili579 – 773Sequence analysisAdd BLAST195

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi260 – 372Ser-richAdd BLAST113

Sequence similaritiesi

Belongs to the cytospin-A family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4678 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00760000118856
InParanoidiQ5M775
OMAiVEKDYSY
OrthoDBiEOG091G01BX
PhylomeDBiQ5M775
TreeFamiTF316716

Family and domain databases

CDDicd00014 CH, 1 hit
Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
PfamiView protein in Pfam
PF00307 CH, 1 hit
SMARTiView protein in SMART
SM00033 CH, 1 hit
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti164 – 170AALESQV → VRLSPKF in BAB16440 (Ref. 1) Curated7
Sequence conflicti179A → S in BAB16440 (Ref. 1) Curated1
Sequence conflicti179A → S in AAW30001 (PubMed:15602574).Curated1
Sequence conflicti330D → N in AAH50058 (PubMed:15489334).Curated1
Sequence conflicti359G → R in AAH50058 (PubMed:15489334).Curated1
Sequence conflicti364S → I in AAH33618 (PubMed:15489334).Curated1
Sequence conflicti382E → G in AAW29999 (PubMed:15602574).Curated1
Sequence conflicti382E → G in AAW30000 (PubMed:15602574).Curated1
Sequence conflicti382E → G in AAW30002 (PubMed:15602574).Curated1
Sequence conflicti434 – 435EQ → DE in AAH50058 (PubMed:15489334).Curated2
Sequence conflicti831R → G in AAW30000 (PubMed:15602574).Curated1
Sequence conflicti831R → G in AAW30002 (PubMed:15602574).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053055274S → R1 PublicationCorresponds to variant dbSNP:rs9908032Ensembl.1
Natural variantiVAR_028800293M → L4 PublicationsCorresponds to variant dbSNP:rs2703806Ensembl.1
Natural variantiVAR_053056769D → N. Corresponds to variant dbSNP:rs35835131Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0211621 – 94MRSAA…LRSGT → MGNHSGRPEDPEP in isoform 3, isoform 4 and isoform 5. 2 PublicationsAdd BLAST94
Alternative sequenceiVSP_021163785 – 1068Missing in isoform 5. 1 PublicationAdd BLAST284
Alternative sequenceiVSP_021164785 – 790PVDEEP → SLGSVS in isoform 2 and isoform 3. 2 Publications6
Alternative sequenceiVSP_021165791 – 1068Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST278

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]
XP_016880814.1, XM_017025325.1 [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

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: February 1, 2005
Last modified: February 28, 2018
This is version 116 of the entry and version 1 of the sequence. See 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

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