S100A13 (S100 calcium binding protein A13)

Identity

HGNC	S100A13
Location	1q21.3
Local_order	Co-localized in a gene cluster with other S100 genes on 1q21.3.

DNA/RNA

Description	The gene contains five exons and four introns; it is composed of a variable 5' untranslated region, a 296 bp coding sequence, a 3' untranslated region and a polyA tail.
Transcription	The gene has 5 alternatively spliced variants encoding the same protein; the variant 1 represents the longest transcript (951 bp), all the other variants have distinct and shorter 5'UTR as compared to variant 1.

Protein

	Schematic representation of the domains structure of S100A13 monomer.

Description	Small homodimeric protein (98 amino-acids, M.W. 11,47 kDa), with 2 Ca2+-binding EF-hands motifs and a positively charged C-terminal region mediating the interaction with specific target molecules.
Expression	Highly expressed in skeletal muscle, heart, kidney, pancreas, ovary, spleen and small intestine, follicle cells of thyroid; moderate expression in prostate, testis, colon and brain; little expression in thymus, lung, liver and placenta, non detectable expression in leukocytes.
Localisation	Cytosolic
Function	It may function in exocytosis, since it is one of the targets of some antiallergic drugs, such as amlexanox and cromolyn, which inhibit degranulation of mast cells; marker of active angiogenesis in some tumours and endometriosis; released with signal peptide-less proteins such as FGF1 and IL-1alpha upon intracellular stress conditions.
Homology	68% homology with human S100A14 and 50.5% with human S100A5; 86,7% with mouse S100A13.

Implicated in

Entity	Astrocytic gliomas
Disease	Astrocytic gliomas are the most common primary brain tumours; they include WHO grade IV tumours, such as glioblastomas with its variants and WHO grade III tumours (anaplastic forms of astrocytoma, oligodendroglioma and oligoastrocytoma).
Prognosis	Poor for glioblastoma, relatively better for who grade III tumours.
Cytogenetics	Anaplastic astrocytomas carry gain of chromosome 7 or 7q and deletions on chromosomes 6, 9p, 11p, 19q and 22q. Glioblastomas demonstrate deletions of chromosome 10 and allelic losses on 19q and 13q.
Oncogenesis	Homozigous deletion of CDKN2A, CDKN2B and p14ARF(9p) (9p), negative regulators of cell cycle or amplification of the cyclin-dependent kinase CDK4 are frequent in astrocytoma gr. III and glioblastoma. Glioblastoma and a subset of anaplastic astrocytoma with no abnormality of CDK4 and CDKN2A carries mutation in the retinoblastoma gene (Rb1); p53-pathway is frequently altered and PTEN is mutated in 30-40% of glioblastoma and in astrocytoma with poor prognosis. Astrocytic gliomas generally stain positive for S-100 proteins; S100-A13 is up-regulated in high-grade gliomas and correlated with microvessel density and tumour grading.
Entity	Endometriosis
Disease	Endometriosis is characterized by the presence and proliferation of functional endometrial glands and stroma outside the uterine cavity. It is a multifactorial genetic disorders. Increasing evidence points to the role of angiogenesis in the disease pathogenesis and many angiogenic factors and cytokines such as VEGF-A, FGF1, endoglin and interleukin-1 alpha are up-regulated in endometriotic lesions. S100A13 is over-expressed in endometriotic specimens, particularly in microvascular endothelia.
Prognosis	It is a chronic and recurrent disease associated with infertility.
Entity	Lung cancer
Disease	Lung cancer is the most preventable of all the major forms of cancer since at least 75% of all cases worldwide are due to tobacco smoking. It can be classified into two main groups: small cell lung cancer and non-small cell lung cancer. The latter group is a heterogeneous aggregate of at least 3 distinct histologies including epidermoid or squamous carcinoma, adenocarcinoma and large cell carcinoma with the potential for cure with surgical resection when localized. Small cell lung carcinoma has a greater tendency to be disseminated by the time of diagnosis but is much more responsive to chemotherapy and radiation compared to non-small cell lung cancer.
Prognosis	Poor; small cell carcinoma has the most aggressive clinical course with median survival of only 2-4 months without treatment.
Cytogenetics	Loss of heterozigosity in chromosome regions 3p (fragile histidine triad, FHIT, locus), 12p, 13q (Rb1 locus) and 17p (p53 locus).
Oncogenesis	Inactivation of p16 by promoter hypermethylation is more frequent in squamous cell carcinoma compared with adenocarcinoma and is almost never found in small-cell lung cancer; K-ras mutations are documented only in non- small cell lung tumours particularly adenocarcinoma. Overexpression of myc family members and inactivation of p53, pRb and FHIT are found in all histologic types of lung cancer. S100P and S100A2 may be predictors of distant metastasis and poor survival in non-small cell lung tumours since they are overexpressed in tumours that metastatized during the course of the disease; S100A13 expression correlates with a more invasive phenotype in vitro.

External links

	Nomenclature
HGNC	S100A13   10490
Entrez_Gene	S100A13  6284  S100 calcium binding protein A13
	Cards
Atlas	S100A13ID44197ch1q21
GeneCards	S100A13
Ensembl	S100A13 [Search_View]   ENSG00000189171 [Gene_View]
Genatlas	S100A13
GeneLynx	S100A13
eGenome	S100A13
euGene	6284
	Genomic and cartography
GoldenPath	S100A13  -  1q21.3   chr1:151857900-151873192 -  1q21   [Description]    (hg18-Mar_2006)
Ensembl	S100A13 - 1q21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	S100A13
	Gene and transcription
Genbank	AA366085 [ ENTREZ ]
Genbank	AK097132 [ ENTREZ ]
Genbank	AY987392 [ ENTREZ ]
Genbank	BC000632 [ ENTREZ ]
Genbank	BC068064 [ ENTREZ ]
RefSeq	NM_001024210 [ SRS ]    NM_001024210 [ ENTREZ ]
RefSeq	NM_001024211 [ SRS ]    NM_001024211 [ ENTREZ ]
RefSeq	NM_001024212 [ SRS ]    NM_001024212 [ ENTREZ ]
RefSeq	NM_001024213 [ SRS ]    NM_001024213 [ ENTREZ ]
RefSeq	NM_005979 [ SRS ]    NM_005979 [ ENTREZ ]
RefSeq	AC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeq	AC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeq	NC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeq	NT_004487 [ SRS ]    NT_004487 [ ENTREZ ]
RefSeq	NW_001838529 [ SRS ]    NW_001838529 [ ENTREZ ]
RefSeq	NW_925683 [ SRS ]    NW_925683 [ ENTREZ ]
AceView	S100A13 AceView - NCBI
Unigene	Hs.516505 [ SRS ]    Hs.516505 [ NCBI ]     HS516505 [ spliceNest ]
Fast-db	17315 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q99584 [ SRS]    Q99584 [ EXPASY ]     Q99584 [ INTERPRO ]     Q99584 [ UNIPROT ]
Prosite	PS00018 EF_HAND_1 [ SRS ]    PS00018 EF_HAND_1 [ Expasy ]
Prosite	PS50222 EF_HAND_2 [ SRS ]    PS50222 EF_HAND_2 [ Expasy ]
Prosite	PS00303 S100_CABP [ SRS ]    PS00303 S100_CABP [ Expasy ]
Interpro	IPR011992 EF-Hand_type [ SRS ]    IPR011992 EF-Hand_type [ EBI ]
Interpro	IPR002048 EF_hand_Ca_bd [ SRS ]    IPR002048 EF_hand_Ca_bd [ EBI ]
Interpro	IPR001751 S100_Ca_bd [ SRS ]    IPR001751 S100_Ca_bd [ EBI ]
Interpro	IPR013787 S100_Ca_bd_sub [ SRS ]    IPR013787 S100_Ca_bd_sub [ EBI ]
CluSTr	Q99584
Pfam	PF01023 S_100 [ SRS ]    PF01023 S_100 [ Sanger ]    pfam01023 [ NCBI-CDD ]
Prodom	PD003407 CaBP_S100[INRA-Toulouse]
Prodom	Q99584 S10AD_HUMAN [ Domain structure ]   Q99584 S10AD_HUMAN  [ sequences sharing at least 1 domain ]
Prodom	PD003407[INRA-Toulouse]
Prodom	Q99584 S10AD_HUMAN [ Domain structure ]   Q99584 S10AD_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q99584
PDB	1YUR [ SRS ]    1YUR [ PdbSum ],   1YUR [ IMB ]   1YUR [ RSDB ]
PDB	1YUS [ SRS ]    1YUS [ PdbSum ],   1YUS [ IMB ]   1YUS [ RSDB ]
PDB	1YUT [ SRS ]    1YUT [ PdbSum ],   1YUT [ IMB ]   1YUT [ RSDB ]
PDB	1YUU [ SRS ]    1YUU [ PdbSum ],   1YUU [ IMB ]   1YUU [ RSDB ]
PDB	2EGD [ SRS ]    2EGD [ PdbSum ],   2EGD [ IMB ]   2EGD [ RSDB ]
PDB	2H2K [ SRS ]    2H2K [ PdbSum ],   2H2K [ IMB ]   2H2K [ RSDB ]
HPRD	03586
	Protein Interaction databases
DIP	Q99584
IntAct	Q99584
	Polymorphism : SNP, mutations, diseases
OMIM	601989    [ map ]
GENECLINICS	601989
SNP	S100A13 [dbSNP-NCBI]
SNP	NM_001024210 [SNP-NCI]
SNP	NM_001024211 [SNP-NCI]
SNP	NM_001024212 [SNP-NCI]
SNP	NM_001024213 [SNP-NCI]
SNP	NM_005979 [SNP-NCI]
SNP	S100A13 [GeneSNPs - Utah]  S100A13] [HGBASE - SRS]
HAPMAP	S100A13 [HAPMAP]
HGMD	S100A13
	General knowledge
Family Browser	S100A13 [UCSC Family Browser]
SOURCE	NM_001024210
SOURCE	NM_001024211
SOURCE	NM_001024212
SOURCE	NM_001024213
SOURCE	NM_005979
SMD	Hs.516505
SAGE	Hs.516505
GO	calcium ion binding [Amigo]  calcium ion binding
GO	cellular_component [Amigo]  cellular_component
GO	cell differentiation [Amigo]  cell differentiation
PubGene	S100A13
TreeFam	S100A13
CTD	6284 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	S100A13 Related clones (RZPD - Berlin)
	PubMed
PubMed	24 Pubmed reference(s) in LocusLink

Bibliography

Characterization of the human and mouse cDNAs coding for S100A13, a new member of the S100 protein family.

Wicki R, Schˆ§fer BW, Erne P, Heizmann CW

Biochemical and biophysical research communications. 1996 ; 227 (2) : 594-599.

PMID 8878558

Three distinct anti-allergic drugs, amlexanox, cromolyn and tranilast, bind to S100A12 and S100A13 of the S100 protein family.

Shishibori T, Oyama Y, Matsushita O, Yamashita K, Furuichi H, Okabe A, Maeta H, Hata Y, Kobayashi R

The Biochemical journal. 1999 ; 338 ( Pt 3) : 583-589.

PMID 10051426

Differential frequencies of p16(INK4a) promoter hypermethylation, p53 mutation, and K-ras mutation in exfoliative material mark the development of lung cancer in symptomatic chronic smokers.

Kersting M, Friedl C, Kraus A, Behn M, Pankow W, Schuermann M

Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2000 ; 18 (18) : 3221-3229.

PMID 10986054

S100A13. Biochemical characterization and subcellular localization in different cell lines.

Ridinger K, Schˆ§fer BW, Durussel I, Cox JA, Heizmann CW

The Journal of biological chemistry. 2000 ; 275 (12) : 8686-8694.

PMID 10722710

p16(INK4a) and histology-specific methylation of CpG islands by exposure to tobacco smoke in non-small cell lung cancer.

Kim DH, Nelson HH, Wiencke JK, Zheng S, Christiani DC, Wain JC, Mark EJ, Kelsey KT

Cancer research. 2001 ; 61 (8) : 3419-3424.

PMID 11309302

Copper induces the assembly of a multiprotein aggregate implicated in the release of fibroblast growth factor 1 in response to stress.

Landriscina M, Bagalˆ° C, Mandinova A, Soldi R, Micucci I, Bellum S, Prudovsky I, Maciag T

The Journal of biological chemistry. 2001 ; 276 (27) : 25549-25557.

PMID 11432880

S100A13 participates in the release of fibroblast growth factor 1 in response to heat shock in vitro.

Landriscina M, Soldi R, Bagalˆ° C, Micucci I, Bellum S, Tarantini F, Prudovsky I, Maciag T

The Journal of biological chemistry. 2001 ; 276 (25) : 22544-22552.

PMID 11410600

Molecular genetics of small cell lung carcinoma.

Wistuba II, Gazdar AF, Minna JD

Seminars in oncology. 2001 ; 28 (2 Suppl 4) : 3-13.

PMID 11479891

S100A13 mediates the copper-dependent stress-induced release of IL-1alpha from both human U937 and murine NIH 3T3 cells.

Mandinova A, Soldi R, Graziani I, Bagala C, Bellum S, Landriscina M, Tarantini F, Prudovsky I, Maciag T

Journal of cell science. 2003 ; 116 (Pt 13) : 2687-2696.

PMID 12746488

The non-classical export routes: FGF1 and IL-1alpha point the way.

Prudovsky I, Mandinova A, Soldi R, Bagala C, Graziani I, Landriscina M, Tarantini F, Duarte M, Bellum S, Doherty H, Maciag T

Journal of cell science. 2003 ; 116 (Pt 24) : 4871-4881.

PMID 14625381

Endoglin (cd105) and S100A13 as markers of active angiogenesis in endometriosis.

Hayrabedyan S, Kyurkchiev S, Kehayov I

Reproductive biology. 2005 ; 5 (1) : 51-67.

PMID 15821778

Bacterial infection and semen quality.

Sanocka-Maciejewska D, Ciupi‰Ñska M, Kurpisz M

Journal of reproductive immunology. 2005 ; 67 (1-2) : 51-56.

PMID 16112738

Interleukin 1alpha and tissue-lytic matrix metalloproteinase-1 are elevated in ectopic endometrium of patients with endometriosis.

Hudelist G, Lass H, Keckstein J, Walter I, Wieser F, Wenzl R, Mueller R, Czerwenka K, Kubista E, Singer CF

Human reproduction (Oxford, England). 2005 ; 20 (6) : 1695-1701.

PMID 15746198

S100A13, a new marker of angiogenesis in human astrocytic gliomas.

Landriscina M, Schinzari G, Di Leonardo G, Quirino M, Cassano A, D'Argento E, Lauriola L, Scerrati M, Prudovsky I, Barone C

Journal of neuro-oncology. 2006 ; 80 (3) : 251-259.

PMID 16773219

Crystal structure study on human S100A13 at 2.0 A resolution.

Li M, Zhang PF, Pan XW, Chang WR

Biochemical and biophysical research communications. 2007 ; 356 (3) : 616-621.

PMID 17374362

Identification of a novel, functional role for S100A13 in invasive lung cancer cell lines.

Pierce A, Barron N, Linehan R, Ryan E, O'Driscoll L, Daly C, Clynes M

European journal of cancer (Oxford, England : 1990). 2008 ; 44 (1) : 151-159.

PMID 18061437

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Contributor(s)

Written	02-2008	Carlo Barone, Cinzia Bagalà, Matteo Landriscina
		Catholic University of Sacred Heart, Institute of Internal Medicine, Oncology Unit, Largo A. Gemelli 8, 00168 Roma, Itlaly

Citation

This paper should be referenced as such :

Barone C, Bagalà C, Landriscina M . S100A13 (S100 calcium binding protein A13). Atlas Genet Cytogenet Oncol Haematol. February 2008 . URL : http://AtlasGeneticsOncology.org/Genes/S100A13ID44197ch1q21.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:17:20 2008