Seroatlas · Human Serome Atlas

SPECC1

Cytospin-B

Also known as: CYTSB, CYTSB_HUMAN, FLJ36955, HCMOGT-1, NSP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5M775
Gene: SPECC1
Ensembl: ENSG00000128487
Chromosome: 17
Canonical length: 1068 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli fibrillar center,Vesicles,Cytosol

OverviewNCBI Gene

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1068 residues, UniProt reviewed canonical sequence.

>Q5M775|SPECC1
     1  MRSAAKPWNP AIRAGGHGPD RVRPLPAASS GMKSSKSSTS LAFESRLSRL KRASSEDTLN
    61  KPGSTAASGV VRLKKTATAG AISELTESRL RSGTGAFTTT KRTGIPAPRE FSVTVSRERS
   121  VPRGPSNPRK SVSSPTSSNT PTPTKHLRTP STKPKQENEG GEKAALESQV RELLAEAKAK
   181  DSEINRLRSE LKKYKEKRTL NAEGTDALGP NVDGTSVSPG DTEPMIRALE EKNKNFQKEL
   241  SDLEEENRVL KEKLIYLEHS PNSEGAASHT GDSSCPTSIT QESSFGSPTG NQMSSDIDEY
   301  KKNIHGNALR TSGSSSSDVT KASLSPDASD FEHITAETPS RPLSSTSNPF KSSKCSTAGS
   361  SPNSVSELSL ASLTEKIQKM EENHHSTAEE LQATLQELSD QQQMVQELTA ENEKLVDEKT
   421  ILETSFHQHR ERAEQLSQEN EKLMNLLQER VKNEEPTTQE GKIIELEQKC TGILEQGRFE
   481  REKLLNIQQQ LTCSLRKVEE ENQGALEMIK RLKEENEKLN EFLELERHNN NMMAKTLEEC
   541  RVTLEGLKME NGSLKSHLQG EKQKATEASA VEQTAESCEV QEMLKVARAE KDLLELSCNE
   601  LRQELLKANG EIKHVSSLLA KVEKDYSYLK EICDHQAEQL SRTSLKLQEK ASESDAEIKD
   661  MKETIFELED QVEQHRAVKL HNNQLISELE SSVIKLEEQK SDLERQLKTL TKQMKEETEE
   721  WRRFQADLQT AVVVANDIKC EAQQELRTVK RKLLEEEEKN ARLQKELGDV QGHGRVVTSR
   781  AAPPPVDEEP ESSEVDAAGR WPGVCVSRTS PTPPESATTV KSLIKSFDLG RPGGAGQNIS
   841  VHKTPRSPLS GIPVRTAPAA AVSPMQRHST YSSVRPASRG VTQRLDLPDL PLSDILKGRT
   901  ETLKPDPHLR KSPSLESLSR PPSLGFGDTR LLSASTRAWK PQSKLSVERK DPLAALAREY
   961  GGSKRNALLK WCQKKTQGYA NIDITNFSSS WSDGLAFCAL LHTYLPAHIP YQELNSQEKK
  1021  RNLLLAFEAA ESVGIKPSLE LSEMLYTDRP DWQSVMQYVA QIYKYFET

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPECC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 43 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 43 nTPM
choroid plexus: 35 nTPM
midbrain: 33 nTPM
hippocampal formation: 29 nTPM
amygdala: 25 nTPM
testis: 24 nTPM

Single-cell type

erythrocyte progenitors: 365 nCPM
microglia: 313 nCPM
choroid plexus epithelial cells: 304 nCPM
pericytes: 195 nCPM
lactotrophs: 194 nCPM
cone photoreceptor cells: 184 nCPM

Immune cell

basophil: 41 nTPM
eosinophil: 33 nTPM
myeloid DC: 27 nTPM
classical monocyte: 16 nTPM
NK-cell: 13 nTPM
neutrophil: 11 nTPM

Brain region

white matter: 147 nTPM
cerebral cortex: 141 nTPM
hippocampal formation: 136 nTPM
thalamus: 136 nTPM
basal ganglia: 122 nTPM
medulla oblongata: 121 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPECC1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myoepithelial tumor

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.49
gnomAD pLI: 0
gnomAD missense Z: -0.19
DepMap mean gene effect: 0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SPECC1 as an antibody target. Whether an autoantibody or antibody against SPECC1 could matter depends on whether native SPECC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPECC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SPECC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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